Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant Genes: ABCA12 (Hsa)
(GRCh38)2:214945011T>C
(Homo sapiens)Allele/Variant
Source: NC_000002.12:g.214945011T>C
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214945011T>C
(GRCh38)2:214958369C>T
(Homo sapiens)Allele/Variant
Source: rs751692199
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214958369C>T
(GRCh38)2:214942986A>G
(Homo sapiens)Allele/Variant
Source: rs1574926336
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214942986A>G
(GRCh38)2:214956692G>A
(Homo sapiens)Allele/Variant
Source: rs777822338
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214956692G>A
(GRCh38)2:214951095C>T
(Homo sapiens)Allele/Variant
Source: rs1205579707
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214951095C>T
(GRCh38)2:214951098A>G
(Homo sapiens)Allele/Variant
Source: NC_000002.12:g.214951098A>G
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214951098A>G
(GRCh38)2:214947425C>A
(Homo sapiens)Allele/Variant
Source: NC_000002.12:g.214947425C>A
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214947425C>A
(GRCh38)2:214974058A>G
(Homo sapiens)Allele/Variant
Source: rs142349854
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214974058A>G
(GRCh38)2:214975823G>C
(Homo sapiens)Allele/Variant
Source: rs770238142
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214975823G>C
(GRCh38)2:214975982C>T
(Homo sapiens)Allele/Variant
Source: rs771076908
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214975982C>T
(GRCh38)2:214931790G>A
(Homo sapiens)Allele/Variant
Source: rs143075508
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, 3_prime_UTR_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214931790G>A
(GRCh38)2:214955190A>T
(Homo sapiens)Allele/Variant
Source: NC_000002.12:g.214955190A>T
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214955190A>T
(GRCh38)2:214934161C>T
(Homo sapiens)Allele/Variant
Source: rs140033094
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214934161C>T
(GRCh38)2:214934177G>A
(Homo sapiens)Allele/Variant
Source: rs990165100
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214934177G>A
(GRCh38)2:214956715A>G
(Homo sapiens)Allele/Variant
Source: NC_000002.12:g.214956715A>G
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214956715A>G
(GRCh38)2:214954026G>T
(Homo sapiens)Allele/Variant
Source: NC_000002.12:g.214954026G>T
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214954026G>T
(GRCh38)2:214954037C>T
(Homo sapiens)Allele/Variant
Source: rs1553520337
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214954037C>T
(GRCh38)2:214932149A>G
(Homo sapiens)Allele/Variant
Source: rs77729645
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, 3_prime_UTR_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214932149A>G
(GRCh38)2:214948598C>T
(Homo sapiens)Allele/Variant
Source: rs376611510
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214948598C>T
(GRCh38)2:214932707T>C
(Homo sapiens)Allele/Variant
Source: rs199846944
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214932707T>C
(GRCh38)2:214931824T>C
(Homo sapiens)Allele/Variant
Source: rs886055602
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, 3_prime_UTR_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214931824T>C
(GRCh38)2:214955242G>C
(Homo sapiens)Allele/Variant
Source: rs1553520447
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: stop_gained, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214955242G>C
(GRCh38)2:214955289G>T
(Homo sapiens)Allele/Variant
Source: rs10498027
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: stop_gained, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214955289G>T
(GRCh38)2:214943033G>A
(Homo sapiens)Allele/Variant
Source: rs779580419
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214943033G>A
(GRCh38)2:214944986T>G
(Homo sapiens)Allele/Variant
Source: rs780915400
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214944986T>G
(GRCh38)2:214945027T>C
(Homo sapiens)Allele/Variant
Source: rs1299216744
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214945027T>C
(GRCh38)2:214959092C>G
(Homo sapiens)Allele/Variant
Source: rs760739044
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214959092C>G
(GRCh38)2:214955380A>T
(Homo sapiens)Allele/Variant
Source: NC_000002.12:g.214955380A>T
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214955380A>T
(GRCh38)2:214948623A>G
(Homo sapiens)Allele/Variant
Source: rs1390791356
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214948623A>G
(GRCh38)2:214948630C>A
(Homo sapiens)Allele/Variant
Source: rs749848420
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214948630C>A
(GRCh38)2:214949141C>T
(Homo sapiens)Allele/Variant
Source: rs1191213553
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214949141C>T
(GRCh38)2:214954078C>T
(Homo sapiens)Allele/Variant
Source: rs1031078685
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214954078C>T
(GRCh38)2:214945020C>T
(Homo sapiens)Allele/Variant
Source: rs148434996
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214945020C>T
(GRCh38)2:214934065G>T
(Homo sapiens)Allele/Variant
Source: rs750005163
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214934065G>T
(GRCh38)2:214956677T>C
(Homo sapiens)Allele/Variant
Source: rs755748351
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214956677T>C
(GRCh38)2:214931970G>C
(Homo sapiens)Allele/Variant
Source: rs191323693
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, 3_prime_UTR_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214931970G>C
(GRCh38)2:214959004T>C
(Homo sapiens)Allele/Variant
Source: rs760860781
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214959004T>C
(GRCh38)2:214937509C>T
(Homo sapiens)Allele/Variant
Source: NC_000002.12:g.214937509C>T
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, splice_donor_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214937509C>T
(GRCh38)2:214942916G>C
(Homo sapiens)Allele/Variant
Source: NC_000002.12:g.214942916G>C
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214942916G>C
(GRCh38)2:214942956A>G
(Homo sapiens)Allele/Variant
Source: rs2105917488
Genes: ABCA12 (Hsa), SNHG31 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214942956A>G
(GRCh38)2:214978927A>G
(Homo sapiens)Allele/Variant
Source: rs1212734561
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214978927A>G
(GRCh38)2:214983786T>G
(Homo sapiens)Allele/Variant
Source: rs1699723370
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214983786T>G
(GRCh38)2:214986580T>C
(Homo sapiens)Allele/Variant
Source: rs746914291
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214986580T>C
(GRCh38)2:214987705C>T
(Homo sapiens)Allele/Variant
Source: rs370828016
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214987705C>T
(GRCh38)2:214990768G>T
(Homo sapiens)Allele/Variant
Source: NC_000002.12:g.214990768G>T
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214990768G>T
(GRCh38)2:214990791C>T
(Homo sapiens)Allele/Variant
Source: rs267606622
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214990791C>T
(GRCh38)2:214990855C>T
(Homo sapiens)Allele/Variant
Source: rs369775087
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214990855C>T
(GRCh38)2:214991027A>C
(Homo sapiens)Allele/Variant
Source: rs1391622169
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_exon_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214991027A>C
(GRCh38)2:214991035T>C
(Homo sapiens)Allele/Variant
Source: rs1559134483
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214991035T>C
(GRCh38)2:214991056G>A
(Homo sapiens)Allele/Variant
Source: rs4533467
Genes: ABCA12 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)2:214991056G>A