Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K|MAF: 0.01 (T)
Location

Chromosome 1:158654738 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM930690

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature, has 2506 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays