Original source

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

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

Chromosome 2:74366896 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM042336

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9924

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 21 transcripts and is associated with 3 phenotypes.

Variant displays