Original source

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

Alleles
C/T|Ancestral: T|Ambiguity code: Y|MAF: 0.11 (C)
Location

Chromosome 4:148436323 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030066

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on 13 chips - Show

About this variant

This variant overlaps 6 transcripts, has 6313 sample genotypes and is mentioned in 17 citations.

Variant displays