Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.39 (A)
Location

Chromosome 22:19963748 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM960420

Most severe consequence
Evidence status

Clinical significance

This variation has 16 synonyms - click the plus to show

This variation has 20 HGVS names - click the plus to show

This variation has assays on 14 chips - click the plus to show

About this variant

This variant overlaps 12 transcripts, has 3000 individual genotypes, is associated with 2 phenotypes and is mentioned in 436 citations.

Variation displays