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 1:115286135 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4020975 ; HGMD-PUBLIC CM040787 ; PhenCode IPNMDB_396 (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 3 transcripts, has 681 sample genotypes, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays