Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/C | Ancestral: C | Ambiguity code: S | MAF: 0.41 (C)
Location

Chromosome 22:50625611 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910052

Most severe consequence
Evidence status

Clinical significance

This variation has 8 synonyms - click the plus to show

This variation has 13 HGVS names - click the plus to show

This variation has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 8 transcripts, has 3531 individual genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variation displays