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rs1060505039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060505039(A;G)
Make rs1060505039(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position1509784
GeneINPP5K
is asnp
is mentioned by
dbSNPrs1060505039
dbSNP (old)rs1060505039
ClinGenrs1060505039
ebirs1060505039
HLIrs1060505039
Exacrs1060505039
Gnomadrs1060505039
Varsomers1060505039
Maprs1060505039
PheGenIrs1060505039
Biobankrs1060505039
1000 genomesrs1060505039
hgdprs1060505039
ensemblrs1060505039
gopubmedrs1060505039
geneviewrs1060505039
scholarrs1060505039
googlers1060505039
pharmgkbrs1060505039
gwascentralrs1060505039
openSNPrs1060505039
23andMers1060505039
23andMe allrs1060505039
SNPshotrs1060505039
SNPdbers1060505039
MSV3drs1060505039
GWAS Ctlgrs1060505039
Max Magnitude0
ClinVar
Risk rs1060505039(G;G)
Alt rs1060505039(G;G)
Reference Rs1060505039(A;A)
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.1413078T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000477699.1,