Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.01 (T)
Location

Chromosome 1:169549811 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM940389

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 3 transcripts, has 3278 sample genotypes, is associated with 6 phenotypes and is mentioned in 55 citations.

Variant displays