Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

with HGMD-PUBLIC CM082790

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9953

This variant has 6 HGVS names - click the plus to 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