Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
C/G | Ancestral: C | Ambiguity code: S | MAF: 0.50 (G)
Location

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

Co-located

with HGMD-PUBLIC CR065646

Most severe consequence
Evidence status

Clinical significance

This variation has 2 HGVS names - click the plus to show

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

About this variant

This variant overlaps 5 transcripts, has 1098 individual genotypes, is associated with 2 phenotypes and is mentioned in 18 citations.

Variation displays