Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y | MAF: 0.05 (C)
Location

Chromosome 22:50625049 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR890137

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

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

This variation has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 8 transcripts, has 4473 individual genotypes, is associated with 4 phenotypes and is mentioned in 2 citations.

Variation displays