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rs1060499681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499681(-;-)
Make rs1060499681(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position101764303
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs1060499681
dbSNP (classic)rs1060499681
ClinGenrs1060499681
ebirs1060499681
HLIrs1060499681
Exacrs1060499681
Gnomadrs1060499681
Varsomers1060499681
LitVarrs1060499681
Maprs1060499681
PheGenIrs1060499681
Biobankrs1060499681
1000 genomesrs1060499681
hgdprs1060499681
ensemblrs1060499681
geneviewrs1060499681
scholarrs1060499681
googlers1060499681
pharmgkbrs1060499681
gwascentralrs1060499681
openSNPrs1060499681
23andMers1060499681
23andMe allrs1060499681
SNPshotrs1060499681
SNPdbers1060499681
MSV3drs1060499681
GWAS Ctlgrs1060499681
Max Magnitude0
ClinVar
Risk rs1060499681(-;-)
Alt rs1060499681(-;-)
Reference Rs1060499681(G;G)
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.102158081delC
CLNSRC
CLNACC RCV000449625.1,