Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/C | Ancestral: T | Ambiguity code: Y | MAF: 0.20 (C)
Location

Chromosome 16:31357553 (forward strand) | View in location tab

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Archive dbSNP rs58681810, rs56622927

This variant has 6 HGVS names - click the plus to show

16:g.31357553T>C
ENST00000562522.2:c.430+189T>C
ENST00000268296.8:c.430+189T>C
ENST00000562918.5:c.538T>C
ENSP00000483860.1:p.Phe180Leu
ENST00000567409.1:n.837T>C

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

About this variant

This variant overlaps 7 transcripts, has 3726 sample genotypes, is associated with 2 phenotypes and is mentioned in 8 citations.

Variant displays