Original source

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

G/A | Ancestral: G | Ambiguity code: R

Chromosome 1:209625721 (forward strand) | View in location tab


with HGMD-PUBLIC CM941034

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 5 citations.

Variant displays