Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.14 (T)
Location

Chromosome 1:53247055 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM074332

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 10 transcripts, 1 regulatory feature, has 3942 sample genotypes, is associated with 2 phenotypes and is mentioned in 9 citations.

Variant displays