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rs1060505038

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060505038(C;C)
Make rs1060505038(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position1513875
GeneINPP5K
is asnp
is mentioned by
dbSNPrs1060505038
dbSNP (old)rs1060505038
ClinGenrs1060505038
ebirs1060505038
HLIrs1060505038
Exacrs1060505038
Gnomadrs1060505038
Varsomers1060505038
Maprs1060505038
PheGenIrs1060505038
Biobankrs1060505038
1000 genomesrs1060505038
hgdprs1060505038
ensemblrs1060505038
gopubmedrs1060505038
geneviewrs1060505038
scholarrs1060505038
googlers1060505038
pharmgkbrs1060505038
gwascentralrs1060505038
openSNPrs1060505038
23andMers1060505038
23andMe allrs1060505038
SNPshotrs1060505038
SNPdbers1060505038
MSV3drs1060505038
GWAS Ctlgrs1060505038
Max Magnitude0
ClinVar
Risk rs1060505038(C;C)
Alt rs1060505038(C;C)
Reference Rs1060505038(T;T)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene INPP5K
CLNDBN Muscular dystrophy, congenital, with cataracts and intellectual disability
Reversed 1
HGVS NC_000017.10:g.1417169A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000477718.1,