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: 0.10 (G)
Location

Chromosome 12:40263898 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM104618

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

This variation has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, has 2620 individual genotypes, is associated with 1 phenotype and is mentioned in 5 citations.

Variation displays