Original source

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

Alleles
C/G|Ambiguity code: S|MAF: 0.37 (C)
Location

Chromosome 19:44905910 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CR033687

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Archive dbSNP rs678339, rs11542028

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 11 transcripts, 1 regulatory feature, has 2510 sample genotypes and is mentioned in 28 citations.

Variant displays