Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 9:69072646 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM993649

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_Human610_Quad

About this variant

This variant overlaps 5 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays