Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S|MAF: < 0.01 (C)
Location

Chromosome 1:43338634 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002058

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4169, 2009_August_001_173_MPL_159530_0005

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays