Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant Genes: LARGE1 (Hsa) Molecular Consequence: non coding transcript exon variant
(GRCh38)22:33276908C>T
(Homo sapiens)Allele/Variant
Source: rs2075921
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33276908C>T
(GRCh38)22:33283358G>A
(Homo sapiens)Allele/Variant
Source: rs772579469
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33283358G>A
(GRCh38)22:33304520G>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33304520G>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304520G>A
(GRCh38)22:33316260G>C
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33316260G>C
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33316260G>C
(GRCh38)22:33274722C>G
(Homo sapiens)Allele/Variant
Source: rs41282599
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33274722C>G
(GRCh38)22:33632695A>G
(Homo sapiens)Allele/Variant
Source: rs207477966
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33632695A>G
(GRCh38)22:33650349G>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33650349G>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33650349G>A
(GRCh38)22:33456869G>T
(Homo sapiens)Allele/Variant
Source: rs207477963
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33456869G>T
(GRCh38)22:33564690A>G
(Homo sapiens)Allele/Variant
Source: rs713795
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33564690A>G
(GRCh38)22:33564831G>A
(Homo sapiens)Allele/Variant
Source: rs770281395
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33564831G>A
(GRCh38)22:33856557G>A
(Homo sapiens)Allele/Variant
Source: rs2277840
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33856557G>A
(GRCh38)22:33856861T>C
(Homo sapiens)Allele/Variant
Source: rs148432069
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33856861T>C
(GRCh38)22:33382058G>A
(Homo sapiens)Allele/Variant
Source: rs1197844730
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33382058G>A
(GRCh38)22:33384314A>G
(Homo sapiens)Allele/Variant
Source: rs1265970116
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384314A>G
(GRCh38)22:33384187C>T
(Homo sapiens)Allele/Variant
Source: rs1204892970
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384187C>T
(GRCh38)22:33565323A>C
(Homo sapiens)Allele/Variant
Source: rs182874546
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33565323A>C
(GRCh38)22:33274642C>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33274642C>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33274642C>A
(GRCh38)22:33384175C>T
(Homo sapiens)Allele/Variant
Source: rs371887551
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384175C>T
(GRCh38)22:33384179C>A
(Homo sapiens)Allele/Variant
Source: rs750806734
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384179C>A
(GRCh38)22:33565026A>C
(Homo sapiens)Allele/Variant
Source: rs763356483
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33565026A>C
(GRCh38)22:33384320G>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33384320G>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384320G>A
(GRCh38)22:33384323T>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33384323T>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384323T>A
(GRCh38)22:33432330T>C
(Homo sapiens)Allele/Variant
Source: rs80069366
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33432330T>C
(GRCh38)22:33432446C>T
(Homo sapiens)Allele/Variant
Source: rs73166278
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33432446C>T
(GRCh38)22:33274642C>T
(Homo sapiens)Allele/Variant
Source: rs1928830929
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33274642C>T
(GRCh38)22:33283359G>T
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33283359G>T
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33283359G>T
(GRCh38)22:33277040G>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33277040G>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33277040G>A
(GRCh38)22:33316072C>T
(Homo sapiens)Allele/Variant
Source: rs1471006968
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33316072C>T
(GRCh38)22:33337803T>C
(Homo sapiens)Allele/Variant
Source: rs749974211
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, splice_acceptor_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33337803T>C
(GRCh38)22:33337811A>G
(Homo sapiens)Allele/Variant
Source: rs570154224
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33337811A>G
(GRCh38)22:33384016G>A
(Homo sapiens)Allele/Variant
Source: rs73882212
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384016G>A
(GRCh38)22:33565032A>C
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33565032A>C
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33565032A>C
(GRCh38)22:33304516G>T
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33304516G>T
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304516G>T
(GRCh38)22:33337627A>G
(Homo sapiens)Allele/Variant
Source: rs754118302
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33337627A>G
(GRCh38)22:33677799C>T
(Homo sapiens)Allele/Variant
Source: rs207477968
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33677799C>T
(GRCh38)22:33382050G>A
(Homo sapiens)Allele/Variant
Source: NC_000022.11:g.33382050G>A
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33382050G>A
(GRCh38)22:33384308G>T
(Homo sapiens)Allele/Variant
Source: rs2147135797
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384308G>T
(GRCh38)22:33384321G>C
(Homo sapiens)Allele/Variant
Source: rs139572378
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384321G>C
(GRCh38)22:33384539A>C
(Homo sapiens)Allele/Variant
Source: rs76972817
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33384539A>C
(GRCh38)22:33432111G>A
(Homo sapiens)Allele/Variant
Source: rs62225294
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33432111G>A
(GRCh38)22:33382239C>T
(Homo sapiens)Allele/Variant
Source: rs16992223
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33382239C>T
(GRCh38)22:33383910C>T
(Homo sapiens)Allele/Variant
Source: rs116177817
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33383910C>T
(GRCh38)22:33432294T>C
(Homo sapiens)Allele/Variant
Source: rs147579402
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33432294T>C
(GRCh38)22:33283019G>A
(Homo sapiens)Allele/Variant
Source: rs17795326
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33283019G>A
(GRCh38)22:33283103G>A
(Homo sapiens)Allele/Variant
Source: rs79668268
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33283103G>A
(GRCh38)22:33283113C>T
(Homo sapiens)Allele/Variant
Source: rs5998842
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33283113C>T
(GRCh38)22:33304111C>T
(Homo sapiens)Allele/Variant
Source: rs80188851
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33304111C>T
(GRCh38)22:33277049G>A
(Homo sapiens)Allele/Variant
Source: rs774384587
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33277049G>A
(GRCh38)22:33283191G>C
(Homo sapiens)Allele/Variant
Source: rs757144344
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33283191G>C
(GRCh38)22:33626365C>G
(Homo sapiens)Allele/Variant
Source: rs145859359
Genes: LARGE1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)22:33626365C>G