Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
A/G | Ancestral: A | Ambiguity code: R | MAF: 0.39 (A)
Location

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

Most severe consequence
Evidence status

Synonyms

Archive dbSNP rs17681094

This variation 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
ENST00000505766.4:c.1372-2263A>G
ENST00000274364.9:c.1522-2263A>G
ENST00000504254.4:c.*266+662A>G
ENST00000509074.4:c.181-2263A>G
ENST00000502745.4:c.181-2263A>G
ENST00000514350.4:c.1441-2263A>G
ENST00000514001.4:c.181-2263A>G
ENST00000396234.6:c.181-2263A>G
ENST00000379730.6:c.1372-2263A>G

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 14 transcripts, has 1896 individual genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variation displays