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rs1060505040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1060505040(-;-)
Make rs1060505040(-;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position1496098
GeneINPP5K
is asnp
is mentioned by
dbSNPrs1060505040
dbSNP (old)rs1060505040
ClinGenrs1060505040
ebirs1060505040
HLIrs1060505040
Exacrs1060505040
Gnomadrs1060505040
Varsomers1060505040
LitVarrs1060505040
Maprs1060505040
PheGenIrs1060505040
Biobankrs1060505040
1000 genomesrs1060505040
hgdprs1060505040
ensemblrs1060505040
gopubmedrs1060505040
geneviewrs1060505040
scholarrs1060505040
googlers1060505040
pharmgkbrs1060505040
gwascentralrs1060505040
openSNPrs1060505040
23andMers1060505040
23andMe allrs1060505040
SNPshotrs1060505040
SNPdbers1060505040
MSV3drs1060505040
GWAS Ctlgrs1060505040
Max Magnitude0
ClinVar
Risk rs1060505040(-;-)
Alt rs1060505040(-;-)
Reference Rs1060505040(CA;CA)
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.1399392_1399393delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000477707.1,