Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: 0.31 (A)
Location

Chromosome 16:56971567 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs59150318, rs17238065

This variation has 5 HGVS names - click the plus to show

16:g.56971567C>A
ENST00000566128.1:c.463+186C>A
ENST00000200676.6:c.658+186C>A
ENST00000569082.1:n.760+186C>A
ENST00000379780.5:c.658+186C>A

This variation has assays on 10 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 2559 individual genotypes, is associated with 9 phenotypes and is mentioned in 18 citations.

Variation displays