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rs1060499680

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499680(G;T)
Make rs1060499680(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position101768036
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs1060499680
dbSNP (old)rs1060499680
ClinGenrs1060499680
ebirs1060499680
HLIrs1060499680
Exacrs1060499680
Gnomadrs1060499680
Varsomers1060499680
Maprs1060499680
PheGenIrs1060499680
Biobankrs1060499680
1000 genomesrs1060499680
hgdprs1060499680
ensemblrs1060499680
gopubmedrs1060499680
geneviewrs1060499680
scholarrs1060499680
googlers1060499680
pharmgkbrs1060499680
gwascentralrs1060499680
openSNPrs1060499680
23andMers1060499680
23andMe allrs1060499680
SNPshotrs1060499680
SNPdbers1060499680
MSV3drs1060499680
GWAS Ctlgrs1060499680
Max Magnitude0
ClinVar
Risk rs1060499680(T;T)
Alt rs1060499680(T;T)
Reference Rs1060499680(G;G)
Significance Probable-Pathogenic
Disease I cell disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN I cell disease Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102161814C>A
CLNSRC
CLNACC RCV000449512.1,