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rs1057516310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGA;CAGA) 0 common in clinvar
Make rs1057516310(-;-)
Make rs1057516310(-;ACAG)
Make rs1057516310(ACAG;ACAG)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119479006
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057516310
dbSNP (old)rs1057516310
ClinGenrs1057516310
ebirs1057516310
HLIrs1057516310
Exacrs1057516310
Gnomadrs1057516310
Varsomers1057516310
Maprs1057516310
PheGenIrs1057516310
Biobankrs1057516310
1000 genomesrs1057516310
hgdprs1057516310
ensemblrs1057516310
gopubmedrs1057516310
geneviewrs1057516310
scholarrs1057516310
googlers1057516310
pharmgkbrs1057516310
gwascentralrs1057516310
openSNPrs1057516310
23andMers1057516310
23andMe allrs1057516310
SNPshotrs1057516310
SNPdbers1057516310
MSV3drs1057516310
GWAS Ctlgrs1057516310
Max Magnitude0
ClinVar
Risk rs1057516310(-;-)
Alt rs1057516310(-;-)
Reference Rs1057516310(CAGA;CAGA)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118814701_118814704delACAG
CLNSRC
CLNACC RCV000410593.1,