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rs1060499684

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499684(-;-)
Make rs1060499684(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position101753525
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs1060499684
dbSNP (old)rs1060499684
ClinGenrs1060499684
ebirs1060499684
HLIrs1060499684
Exacrs1060499684
Gnomadrs1060499684
Varsomers1060499684
Maprs1060499684
PheGenIrs1060499684
Biobankrs1060499684
1000 genomesrs1060499684
hgdprs1060499684
ensemblrs1060499684
gopubmedrs1060499684
geneviewrs1060499684
scholarrs1060499684
googlers1060499684
pharmgkbrs1060499684
gwascentralrs1060499684
openSNPrs1060499684
23andMers1060499684
23andMe allrs1060499684
SNPshotrs1060499684
SNPdbers1060499684
MSV3drs1060499684
GWAS Ctlgrs1060499684
Max Magnitude0
ClinVar
Risk rs1060499684(-;-)
Alt rs1060499684(-;-)
Reference Rs1060499684(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.102147303delA
CLNSRC
CLNACC RCV000449595.1,