Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y|MAF: 0.19 (C)
Location

Chromosome 8:31167138 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM971591

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 5 transcripts, has 4713 sample genotypes, is associated with 1 phenotype and is mentioned in 15 citations.

Variant displays