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rs1060499687

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs1060499687(AT;AT)
Make rs1060499687(AT;GC)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position101757657
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs1060499687
dbSNP (old)rs1060499687
ClinGenrs1060499687
ebirs1060499687
HLIrs1060499687
Exacrs1060499687
Gnomadrs1060499687
Varsomers1060499687
LitVarrs1060499687
Maprs1060499687
PheGenIrs1060499687
Biobankrs1060499687
1000 genomesrs1060499687
hgdprs1060499687
ensemblrs1060499687
gopubmedrs1060499687
geneviewrs1060499687
scholarrs1060499687
googlers1060499687
pharmgkbrs1060499687
gwascentralrs1060499687
openSNPrs1060499687
23andMers1060499687
23andMe allrs1060499687
SNPshotrs1060499687
SNPdbers1060499687
MSV3drs1060499687
GWAS Ctlgrs1060499687
Max Magnitude0
ClinVar
Risk rs1060499687(AT;AT)
Alt rs1060499687(AT;AT)
Reference Rs1060499687(GC;GC)
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.102151435_102151436delGCinsAT
CLNSRC
CLNACC RCV000449494.1,