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rs1060499679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCA;CCA) 0 common in clinvar
Make rs1060499679(-;-)
Make rs1060499679(-;CCA)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position101770496
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs1060499679
dbSNP (old)rs1060499679
ClinGenrs1060499679
ebirs1060499679
HLIrs1060499679
Exacrs1060499679
Gnomadrs1060499679
Varsomers1060499679
Maprs1060499679
PheGenIrs1060499679
Biobankrs1060499679
1000 genomesrs1060499679
hgdprs1060499679
ensemblrs1060499679
gopubmedrs1060499679
geneviewrs1060499679
scholarrs1060499679
googlers1060499679
pharmgkbrs1060499679
gwascentralrs1060499679
openSNPrs1060499679
23andMers1060499679
23andMe allrs1060499679
SNPshotrs1060499679
SNPdbers1060499679
MSV3drs1060499679
GWAS Ctlgrs1060499679
Max Magnitude0
ClinVar
Risk rs1060499679(-;-)
Alt rs1060499679(-;-)
Reference Rs1060499679(CCA;CCA)
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.102164274_102164276delTGG
CLNSRC
CLNACC RCV000449568.1,