Original source

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

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

Chromosome 1:77942756 (forward strand) | View in location tab


with HGMD-PUBLIC CM097741

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 17581

This variant has 11 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts and is associated with 3 phenotypes.

Variant displays