Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S|MAF: 0.46 (G)
Location

Chromosome 7:116672385 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CR065646

Most severe consequence
 
Upstream gene variant
Evidence status

Clinical significance

HGVS names

This variant has 2 HGVS names - Hide

7:g.116672385C>G
LRG_662:g.4981C>G

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 2506 sample genotypes, is associated with 2 phenotypes and is mentioned in 21 citations.

Variant displays