Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant Genes: PHOX2B-AS1 (Hsa) Molecular Consequence: non coding transcript variant
(GRCh38)4:41748875C>T
(Homo sapiens)Allele/Variant
Source: rs886059415
Genes: PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748875C>T
(GRCh38)4:41833841G>T
(Homo sapiens)Allele/Variant
Source: rs207464561
Genes: PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41833841G>T
(GRCh38)4:41748805C>T
(Homo sapiens)Allele/Variant
Source: rs775569375
Genes: PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748805C>T
(GRCh38)4:41748610T>C
(Homo sapiens)Allele/Variant
Source: NC_000004.12:g.41748610T>C
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, start_lost, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748610T>C
(GRCh38)4:41748608C>T
(Homo sapiens)Allele/Variant
Source: NC_000004.12:g.41748608C>T
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, start_lost, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748608C>T
(GRCh38)4:41748606T>C
(Homo sapiens)Allele/Variant
Source: rs2153113087
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748606T>C
(GRCh38)4:41748589A>G
(Homo sapiens)Allele/Variant
Source: NC_000004.12:g.41748589A>G
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748589A>G
(GRCh38)4:41748604T>G
(Homo sapiens)Allele/Variant
Source: rs2153113086
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748604T>G
(GRCh38)4:41748587G>A
(Homo sapiens)Allele/Variant
Source: rs1577561446
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, splice_donor_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748587G>A
(GRCh38)4:41748598C>A
(Homo sapiens)Allele/Variant
Source: rs2153113084
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: stop_gained, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748598C>A
(GRCh38)4:41748820G>T
(Homo sapiens)Allele/Variant
Source: rs886059414
Genes: PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748820G>T
(GRCh38)4:41749306G>A
(Homo sapiens)Allele/Variant
Source: rs28727473
Genes: PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41749306G>A
(GRCh38)4:41748769G>A
(Homo sapiens)Allele/Variant
Source: rs887117495
Genes: PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748769G>A
(GRCh38)4:41748715C>T
(Homo sapiens)Allele/Variant
Source: rs538445545
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 5_prime_UTR_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748715C>T
(GRCh38)4:41748588T>C
(Homo sapiens)Allele/Variant
Source: NC_000004.12:g.41748588T>C
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, splice_donor_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748588T>C
(GRCh38)4:41748600A>C
(Homo sapiens)Allele/Variant
Source: rs1553898240
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748600A>C
(GRCh38)4:41748602T>C
(Homo sapiens)Allele/Variant
Source: rs1733989492
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748602T>C
(GRCh38)4:41749194G>A
(Homo sapiens)Allele/Variant
Source: rs28462174
Genes: PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, non_coding_transcript_exon_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41749194G>A
(GRCh38)4:41748605A>G
(Homo sapiens)Allele/Variant
Source: NC_000004.12:g.41748605A>G
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: non_coding_transcript_variant, synonymous_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748605A>G
(GRCh38)4:41748594T>C
(Homo sapiens)Allele/Variant
Source: rs2153113082
Genes: PHOX2B (Hsa), PHOX2B-AS1 (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant, non_coding_transcript_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)4:41748594T>C