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rs797045918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045918(-;A)
Make rs797045918(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position53664954
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs797045918
dbSNP (old)rs797045918
ClinGenrs797045918
ebirs797045918
HLIrs797045918
Exacrs797045918
Gnomadrs797045918
Varsomers797045918
Maprs797045918
PheGenIrs797045918
Biobankrs797045918
1000 genomesrs797045918
hgdprs797045918
ensemblrs797045918
gopubmedrs797045918
geneviewrs797045918
scholarrs797045918
googlers797045918
pharmgkbrs797045918
gwascentralrs797045918
openSNPrs797045918
23andMers797045918
23andMe allrs797045918
SNP Nexus

SNPshotrs797045918
SNPdbers797045918
MSV3drs797045918
GWAS Ctlgrs797045918
Max Magnitude0
ClinVar
Risk rs797045918(A;A)
Alt rs797045918(A;A)
Reference Rs797045918(-;-)
Significance Probable-Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53698867dupT
CLNSRC
CLNACC RCV000195016.1,