Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/C/G|Ancestral: T|Ambiguity code: B
Location

Chromosome 18:31592975 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM920683, CM971538

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4849, 4884

HGVS names

This variant has 24 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 12 transcripts and is associated with 4 phenotypes.

Variant displays