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rs28943592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28943592(C;T)
Make rs28943592(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position119536489
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs28943592
ebirs28943592
HLIrs28943592
Exacrs28943592
Varsomers28943592
Maprs28943592
PheGenIrs28943592
hapmaprs28943592
1000 genomesrs28943592
hgdprs28943592
ensemblrs28943592
gopubmedrs28943592
geneviewrs28943592
scholarrs28943592
googlers28943592
pharmgkbrs28943592
gwascentralrs28943592
openSNPrs28943592
23andMers28943592
23andMe allrs28943592
SNP Nexus

SNPshotrs28943592
SNPdbers28943592
MSV3drs28943592
GWAS Ctlgrs28943592
GMAF0.01469
Max Magnitude0

[PMID 22265031] Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure

GET Evidence
HSD17B4-T687I
aa_change Thr687Ile
aa_change_short T687I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.000464856
summary


ClinVar
Risk rs28943592(T;T)
Alt rs28943592(T;T)
Reference rs28943592(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene HSD17B4
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.118872184C>T
CLNSRC
CLNACC RCV000218324.1,