Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.02 (A)
Location

Chromosome 17:49359387 (forward strand)|View in location tab

Most severe consequence
 
Intron variant
Evidence status

HGVS names

This variant has 4 HGVS names - Hide

17:g.49359387G>A
ENST00000508237.5:c.-383+2522C>T
ENST00000362063.6:c.-259+3026C>T
ENST00000430262.2:c.-259+2522C>T

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 6 transcripts, has 3398 sample genotypes, is associated with 1 phenotype and is mentioned in 9 citations.

Variant displays