Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W|MAF: < 0.01 (A)
Location

Chromosome 7:30971183 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM010307

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays