Original source

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

C/G | Ancestral: C | Ambiguity code: S | MAF: < 0.01 (G)

Chromosome 1:12201968 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_017181

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 2 transcripts, has 2552 sample genotypes and is mentioned in 1 citation.

Variant displays