Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|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 variant

HGMD-PUBLIC CR890137

Most severe consequence
 
3 prime UTR variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 8 transcripts, has 4473 sample genotypes, is associated with 5 phenotypes and is mentioned in 2 citations.

Variant displays