Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 1:201359245 (forward strand) | View in location tab


with HGMD-PUBLIC CM951222

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 5866

This variant has 25 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 19 transcripts and is associated with 7 phenotypes.

Variant displays