Original source

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

Alleles
C/A|Ancestral: A|Ambiguity code: M|MAF: 0.20 (C)
Location

Chromosome 4:38797027 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM073378

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 2557 sample genotypes, is associated with 2 phenotypes and is mentioned in 36 citations.

Variant displays