Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 11:69816334 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM070117

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 4468, NM_005247.2:c.310C>T

This variation has 3 HGVS names - click the plus to show

About this variant

This variant overlaps 1 transcript, has 2504 individual genotypes and is associated with 2 phenotypes.

Variation displays