Original source

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

Alleles
A/G | Ancestral: G | Ambiguity code: R | MAF: 0.27 (A)
Location

Chromosome 16:89689495 (forward strand) | View in location tab

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs57123318

This variation has 18 HGVS names - click the plus to show

16:g.89689495A>G
ENST00000512912.4:c.*105-1058A>G
ENST00000472018.4:n.171+171A>G
ENST00000504473.4:n.364-1058A>G
ENST00000503560.1:n.457+171A>G
ENST00000505733.4:n.181+171A>G
ENST00000502547.4:c.*177+171A>G
ENST00000511415.4:c.*51+171A>G
ENST00000510811.5:c.88-1058A>G
ENST00000564192.4:c.-54+171A>G
ENST00000508723.4:c.*220+171A>G
ENST00000507205.4:n.123+189A>G
ENST00000625631.1:c.88-1058A>G
ENST00000505473.4:c.-54+171A>G
ENST00000378277.7:n.86-1058A>G
ENST00000331006.11:c.20-1058A>G
ENST00000514965.4:n.332+171A>G
ENST00000353379.10:c.160+171A>G

This variation has assays on 15 chips - click the plus to show

About this variant

This variant overlaps 24 transcripts, has 2604 individual genotypes, is associated with 3 phenotypes and is mentioned in 11 citations.

Variation displays