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rs1060499689

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499689(C;T)
Make rs1060499689(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position101753435
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs1060499689
dbSNP (old)rs1060499689
ClinGenrs1060499689
ebirs1060499689
HLIrs1060499689
Exacrs1060499689
Gnomadrs1060499689
Varsomers1060499689
LitVarrs1060499689
Maprs1060499689
PheGenIrs1060499689
Biobankrs1060499689
1000 genomesrs1060499689
hgdprs1060499689
ensemblrs1060499689
gopubmedrs1060499689
geneviewrs1060499689
scholarrs1060499689
googlers1060499689
pharmgkbrs1060499689
gwascentralrs1060499689
openSNPrs1060499689
23andMers1060499689
23andMe allrs1060499689
SNPshotrs1060499689
SNPdbers1060499689
MSV3drs1060499689
GWAS Ctlgrs1060499689
Max Magnitude0
ClinVar
Risk rs1060499689(T;T)
Alt rs1060499689(T;T)
Reference Rs1060499689(C;C)
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.102147213G>A
CLNSRC
CLNACC RCV000449550.1,