Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 6:118559037 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030697

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_110_PLN_172405_0002, 4666

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 7 phenotypes.

Variant displays