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rs775518991

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs775518991(-;-)
Make rs775518991(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position136430319
GeneINPP5E
is asnp
is mentioned by
dbSNPrs775518991
dbSNP (old)rs775518991
ClinGenrs775518991
ebirs775518991
HLIrs775518991
Exacrs775518991
Gnomadrs775518991
Varsomers775518991
Maprs775518991
PheGenIrs775518991
Biobankrs775518991
1000 genomesrs775518991
hgdprs775518991
ensemblrs775518991
gopubmedrs775518991
geneviewrs775518991
scholarrs775518991
googlers775518991
pharmgkbrs775518991
gwascentralrs775518991
openSNPrs775518991
23andMers775518991
23andMe allrs775518991
SNPshotrs775518991
SNPdbers775518991
MSV3drs775518991
GWAS Ctlgrs775518991
Max Magnitude0
ClinVar
Risk rs775518991(-;-)
Alt rs775518991(-;-)
Reference Rs775518991(A;A)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene INPP5E
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000009.11:g.139324771delA
CLNSRC
CLNACC RCV000201536.1,