Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.02 (T)

Chromosome 10:70600892 (forward strand) | View in location tab


with PhenCode PRF1base_D0067:g.3284G>A (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 3 transcripts, has 2546 sample genotypes and is associated with 2 phenotypes.

Variant displays