Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)

Chromosome 2:165770217 (forward strand) | View in location tab


with HGMD-PUBLIC CM041346

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 10517

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays