Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045104(-;TC)
Make rs797045104(TC;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position53622350
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs797045104
dbSNP (old)rs797045104
ClinGenrs797045104
ebirs797045104
HLIrs797045104
Exacrs797045104
Gnomadrs797045104
Varsomers797045104
Maprs797045104
PheGenIrs797045104
Biobankrs797045104
1000 genomesrs797045104
hgdprs797045104
ensemblrs797045104
gopubmedrs797045104
geneviewrs797045104
scholarrs797045104
googlers797045104
pharmgkbrs797045104
gwascentralrs797045104
openSNPrs797045104
23andMers797045104
23andMe allrs797045104
SNP Nexus

SNPshotrs797045104
SNPdbers797045104
MSV3drs797045104
GWAS Ctlgrs797045104
Max Magnitude0
ClinVar
Risk rs797045104(TC;TC)
Alt rs797045104(TC;TC)
Reference Rs797045104(-;-)
Significance Probable-Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53656262_53656263insGA
CLNSRC
CLNACC RCV000190621.1,