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: 0.38 (A)
Location

Chromosome 16:56962376 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

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

16:g.56962376G>A
ENST00000566128.1:c.-78+80G>A
ENST00000200676.6:c.118+279G>A
ENST00000569082.1:n.116+279G>A
ENST00000379780.5:c.118+279G>A

This variation has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 1182 individual genotypes, is associated with 1 phenotype and is mentioned in 71 citations.

Variation displays