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rs1057516750

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TTGT;TTGT) 0 common in clinvar
Make rs1057516750(-;-)
Make rs1057516750(-;TTTG)
Make rs1057516750(TTTG;TTTG)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119489278
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1057516750
dbSNP (old)rs1057516750
ClinGenrs1057516750
ebirs1057516750
HLIrs1057516750
Exacrs1057516750
Gnomadrs1057516750
Varsomers1057516750
Maprs1057516750
PheGenIrs1057516750
Biobankrs1057516750
1000 genomesrs1057516750
hgdprs1057516750
ensemblrs1057516750
gopubmedrs1057516750
geneviewrs1057516750
scholarrs1057516750
googlers1057516750
pharmgkbrs1057516750
gwascentralrs1057516750
openSNPrs1057516750
23andMers1057516750
23andMe allrs1057516750
SNPshotrs1057516750
SNPdbers1057516750
MSV3drs1057516750
GWAS Ctlgrs1057516750
Max Magnitude0
ClinVar
Risk rs1057516750(-;-)
Alt rs1057516750(-;-)
Reference Rs1057516750(TTGT;TTGT)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118824973_118824976delTTTG
CLNSRC
CLNACC RCV000410752.1,