Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W | MAF: 0.18 (T)
Location

Chromosome 7:95316772 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM971236

Most severe consequence
Evidence status

Clinical significance

This variation has 11 synonyms - click the plus to show

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

7:g.95316772A>T
ENST00000470502.1:n.283T>A
ENST00000222381.6:c.163T>A
ENSP00000222381.3:p.Leu55Met
ENST00000433729.1:c.163T>A
ENSP00000407359.1:p.Leu55Met

This variation has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 3 transcripts, has 2960 individual genotypes, is associated with 4 phenotypes and is mentioned in 63 citations.

Variation displays