Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S|MAF: 0.09 (C)
Location

Chromosome 19:40718299 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS080711

Most severe consequence
 
Intron variant
Evidence status

HGVS names

This variant has 2 HGVS names - Hide

19:g.40718299G>C
ENST00000263370.2:c.1155+9G>C

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_HumanOmni5

About this variant

This variant overlaps 17 transcripts, 1 regulatory feature, has 2506 sample genotypes, is associated with 2 phenotypes and is mentioned in 28 citations.

Variant displays