Original source

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

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

Chromosome 9:712757 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_048300

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 6 transcripts and has 3186 sample genotypes.

Variant displays