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rs4784319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs4784319(A;T)
Make rs4784319(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position53602021
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs4784319
dbSNP (classic)rs4784319
ClinGenrs4784319
ebirs4784319
HLIrs4784319
Exacrs4784319
Gnomadrs4784319
Varsomers4784319
LitVarrs4784319
Maprs4784319
PheGenIrs4784319
Biobankrs4784319
1000 genomesrs4784319
hgdprs4784319
ensemblrs4784319
geneviewrs4784319
scholarrs4784319
googlers4784319
pharmgkbrs4784319
gwascentralrs4784319
openSNPrs4784319
23andMers4784319
SNPshotrs4784319
SNPdbers4784319
MSV3drs4784319
GWAS Ctlgrs4784319
GMAF0.4325
Max Magnitude0
? (A;A) (A;T) (T;T) 28


[PMID 20512162OA-icon.png] The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels

ClinVar
Risk rs4784319(T;T)
Alt rs4784319(T;T)
Reference Rs4784319(A;A)
Significance Probable-non-pathogenic
Disease Joubert syndrome Meckel-Gruber syndrome Nephronophthisis
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome Meckel-Gruber syndrome Nephronophthisis
Reversed 0
HGVS NC_000016.9:g.53635933A>T
CLNSRC
CLNACC RCV000312663.1, RCV000367605.1, RCV000393136.1,