Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM097741

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17581

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts and is associated with 4 phenotypes.

Variant displays