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rs532768944

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs532768944(A;A)
Make rs532768944(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position53652657
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs532768944
ebirs532768944
HLIrs532768944
Exacrs532768944
Varsomers532768944
Maprs532768944
PheGenIrs532768944
hapmaprs532768944
1000 genomesrs532768944
hgdprs532768944
ensemblrs532768944
gopubmedrs532768944
geneviewrs532768944
scholarrs532768944
googlers532768944
pharmgkbrs532768944
gwascentralrs532768944
openSNPrs532768944
23andMers532768944
23andMe allrs532768944
SNP Nexus

SNPshotrs532768944
SNPdbers532768944
MSV3drs532768944
GWAS Ctlgrs532768944
Max Magnitude0
ClinVar
Risk rs532768944(A;A)
Alt rs532768944(A;A)
Reference rs532768944(G;G)
Significance Pathogenic
Disease Joubert syndrome 7 Meckel syndrome type 5
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7 Meckel syndrome type 5
Reversed 0
HGVS NC_000016.9:g.53686569G>A
CLNSRC
CLNACC RCV000174928.1, RCV000174929.1,