Original source

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

Alleles
C/A/G | Ancestral: C | Ambiguity code: V | MAF: < 0.01 (T)
Location

Chromosome 11:116837053 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM900016

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 28 HGVS names - click the plus to show

About this variant

This variant overlaps 21 transcripts, has 2504 individual genotypes and is associated with 2 phenotypes.

Variation displays