Original source

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

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

Chromosome 4:38797454 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays