Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 5:76625147 (forward strand) | View in location tab

Most severe consequence
 
Intron variant
Evidence status

Synonyms

Archive dbSNP rs17681094

This variant has 12 HGVS names - click the plus to show

5:g.76625147A>G
ENST00000513534.1:c.181-2263A>G
ENST00000515505.1:n.94-2263A>G
ENST00000505766.5:c.1372-2263A>G
ENST00000274364.10:c.1522-2263A>G
ENST00000509074.5:c.181-2263A>G
ENST00000504254.5:c.*266+662A>G
ENST00000514350.5:c.1441-2263A>G
ENST00000514001.5:c.181-2263A>G
ENST00000502745.5:c.181-2263A>G
ENST00000396234.7:c.181-2263A>G
ENST00000379730.7:c.1372-2263A>G

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 13 transcripts, 1 regulatory feature, has 64 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays