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 1:17054012 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM083557

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, has 2507 sample genotypes and is associated with 5 phenotypes.

Variant displays