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rs786204135

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204135(A;A)
Make rs786204135(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position53696150
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs786204135
ebirs786204135
HLIrs786204135
Exacrs786204135
Varsomers786204135
Maprs786204135
PheGenIrs786204135
hapmaprs786204135
1000 genomesrs786204135
hgdprs786204135
ensemblrs786204135
gopubmedrs786204135
geneviewrs786204135
scholarrs786204135
googlers786204135
pharmgkbrs786204135
gwascentralrs786204135
openSNPrs786204135
23andMers786204135
23andMe allrs786204135
SNP Nexus

SNPshotrs786204135
SNPdbers786204135
MSV3drs786204135
GWAS Ctlgrs786204135
Max Magnitude0
ClinVar
Risk rs786204135(A;A)
Alt rs786204135(A;A)
Reference rs786204135(G;G)
Significance Probable-Pathogenic
Disease Familial aplasia of the vermis
Variation info
Gene RPGRIP1L
CLNDBN Familial aplasia of the vermis
Reversed 1
HGVS NC_000016.9:g.53730062C>T
CLNSRC
CLNACC RCV000168110.1,