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rs104894232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894232(A;G)
Make rs104894232(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position125900000
GeneHYLS1, PUS3
is asnp
is mentioned by
dbSNPrs104894232
ebirs104894232
HLIrs104894232
Exacrs104894232
Varsomers104894232
Maprs104894232
PheGenIrs104894232
hapmaprs104894232
1000 genomesrs104894232
hgdprs104894232
ensemblrs104894232
gopubmedrs104894232
geneviewrs104894232
scholarrs104894232
googlers104894232
pharmgkbrs104894232
gwascentralrs104894232
openSNPrs104894232
23andMers104894232
23andMe allrs104894232
SNP Nexus

SNPshotrs104894232
SNPdbers104894232
MSV3drs104894232
GWAS Ctlgrs104894232
GMAF0.001377
Max Magnitude0
OMIM610693
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894232(G;G)
Alt rs104894232(G;G)
Reference rs104894232(A;A)
Significance Pathogenic
Disease Hydrolethalus syndrome
Variation info
Gene PUS3 HYLS1
CLNDBN Hydrolethalus syndrome
Reversed 0
HGVS NC_000011.9:g.125769895A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001202.2,