Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.38 (G)
Location

Chromosome 1:54171744 (forward strand)|View in location tab

Most severe consequence
 
Intron variant
Evidence status

Synonyms

Archive dbSNP rs60317075, rs3795359

HGVS names

This variant has 3 HGVS names - Hide

1:g.54171744G>A
ENST00000311841.7:c.*178+12417C>T
ENST00000525949.1:n.92+859C>T

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni5

About this variant

This variant overlaps 9 transcripts, has 3766 sample genotypes, is associated with 1 phenotype and is mentioned in 5 citations.

Variant displays