Original source

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

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

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


with HGMD-PUBLIC CM993649

Most severe consequence
Missense variant
Evidence status

Clinical significance


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