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rs778149316

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs778149316(-;-)
Make rs778149316(-;T)
Make rs778149316(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position53652977
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs778149316
ebirs778149316
HLIrs778149316
Exacrs778149316
Varsomers778149316
Maprs778149316
PheGenIrs778149316
hapmaprs778149316
1000 genomesrs778149316
hgdprs778149316
ensemblrs778149316
gopubmedrs778149316
geneviewrs778149316
scholarrs778149316
googlers778149316
pharmgkbrs778149316
gwascentralrs778149316
openSNPrs778149316
23andMers778149316
23andMe allrs778149316
SNP Nexus

SNPshotrs778149316
SNPdbers778149316
MSV3drs778149316
GWAS Ctlgrs778149316
Max Magnitude0
ClinVar
Risk rs778149316(T;T)
Alt rs778149316(T;T)
Reference rs778149316(;)
Significance Pathogenic
Disease Familial aplasia of the vermis Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Familial aplasia of the vermis Joubert syndrome 7
Reversed 0
HGVS NC_000016.9:g.53686890dupT
CLNSRC
CLNACC RCV000168109.1, RCV000201673.1,