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rs1060499685

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1060499685(-;-)
Make rs1060499685(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position101764547
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs1060499685
dbSNP (old)rs1060499685
ClinGenrs1060499685
ebirs1060499685
HLIrs1060499685
Exacrs1060499685
Gnomadrs1060499685
Varsomers1060499685
Maprs1060499685
PheGenIrs1060499685
Biobankrs1060499685
1000 genomesrs1060499685
hgdprs1060499685
ensemblrs1060499685
gopubmedrs1060499685
geneviewrs1060499685
scholarrs1060499685
googlers1060499685
pharmgkbrs1060499685
gwascentralrs1060499685
openSNPrs1060499685
23andMers1060499685
23andMe allrs1060499685
SNPshotrs1060499685
SNPdbers1060499685
MSV3drs1060499685
GWAS Ctlgrs1060499685
Max Magnitude0
ClinVar
Risk rs1060499685(-;-)
Alt rs1060499685(-;-)
Reference Rs1060499685(TT;TT)
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.102158325_102158326delAA
CLNSRC
CLNACC RCV000449502.1,