Original source

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

Alleles
A/G|Ancestral: G|Ambiguity code: R|MAF: 0.49 (G)
Location

Chromosome 17:42362183 (forward strand)|View in location tab

Most severe consequence
 
Intron variant
Evidence status

Synonyms

Archive dbSNP rs17593243, rs59978260

HGVS names

This variant has 9 HGVS names - Hide

17:g.42362183A>G
ENST00000585517.5:c.-4-13663T>C
ENST00000588969.5:c.-1-13666T>C
ENST00000404395.3:c.-1-13666T>C
ENST00000588065.1:c.5+11876T>C
ENST00000264657.9:c.-23-13644T>C
ENST00000389272.7:c.-166-15470T>C
LRG_112:g.31313T>C
LRG_112t1:c.-23-13644T>C

Genotyping chips

This variant has assays on 15 chips - Show

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 4436 sample genotypes, is associated with 2 phenotypes and is mentioned in 65 citations.

Variant displays