Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S|MAF: 0.05 (G)
Location

Chromosome 1:2228951 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

ClinVar SCV000171638

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays