Original source

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

C/A | Ancestral: A | Ambiguity code: M | MAF: 0.23 (A)

Chromosome 1:43337449 (forward strand) | View in location tab


with HGMD-PUBLIC CR043164

Most severe consequence
Upstream gene variant
Evidence status

HGVS names

This variant has 2 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 4 transcripts and has 3814 sample genotypes.

Variant displays