Original source

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

G/T | Ancestral: G | Ambiguity code: K | MAF: < 0.01 (T)

Chromosome 8:96145185 (forward strand) | View in location tab


with HGMD-PUBLIC CM082790

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 9953

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays