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rs756856188

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs756856188(C;T)
Make rs756856188(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37244521
GeneC5orf42
is asnp
is mentioned by
dbSNPrs756856188
ebirs756856188
HLIrs756856188
Exacrs756856188
Varsomers756856188
Maprs756856188
PheGenIrs756856188
hapmaprs756856188
1000 genomesrs756856188
hgdprs756856188
ensemblrs756856188
gopubmedrs756856188
geneviewrs756856188
scholarrs756856188
googlers756856188
pharmgkbrs756856188
gwascentralrs756856188
openSNPrs756856188
23andMers756856188
23andMe allrs756856188
SNP Nexus

SNPshotrs756856188
SNPdbers756856188
MSV3drs756856188
GWAS Ctlgrs756856188
Max Magnitude0
ClinVar
Risk rs756856188(T;T)
Alt rs756856188(T;T)
Reference rs756856188(C;C)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 0
HGVS NC_000005.9:g.37244623C>T
CLNSRC
CLNACC RCV000201674.1,