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rs1060499688

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499688(C;C)
Make rs1060499688(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position101753399
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs1060499688
dbSNP (old)rs1060499688
ClinGenrs1060499688
ebirs1060499688
HLIrs1060499688
Exacrs1060499688
Gnomadrs1060499688
Varsomers1060499688
LitVarrs1060499688
Maprs1060499688
PheGenIrs1060499688
Biobankrs1060499688
1000 genomesrs1060499688
hgdprs1060499688
ensemblrs1060499688
gopubmedrs1060499688
geneviewrs1060499688
scholarrs1060499688
googlers1060499688
pharmgkbrs1060499688
gwascentralrs1060499688
openSNPrs1060499688
23andMers1060499688
23andMe allrs1060499688
SNPshotrs1060499688
SNPdbers1060499688
MSV3drs1060499688
GWAS Ctlgrs1060499688
Max Magnitude0
ClinVar
Risk rs1060499688(C;C)
Alt rs1060499688(C;C)
Reference Rs1060499688(T;T)
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.102147177A>G
CLNSRC
CLNACC RCV000449510.1,