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rs797044640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044640(-;T)
Make rs797044640(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position37226775
GeneC5orf42
is asnp
is mentioned by
dbSNPrs797044640
dbSNP (old)rs797044640
ClinGenrs797044640
ebirs797044640
HLIrs797044640
Exacrs797044640
Gnomadrs797044640
Varsomers797044640
Maprs797044640
PheGenIrs797044640
Biobankrs797044640
1000 genomesrs797044640
hgdprs797044640
ensemblrs797044640
gopubmedrs797044640
geneviewrs797044640
scholarrs797044640
googlers797044640
pharmgkbrs797044640
gwascentralrs797044640
openSNPrs797044640
23andMers797044640
23andMe allrs797044640
SNP Nexus

SNPshotrs797044640
SNPdbers797044640
MSV3drs797044640
GWAS Ctlgrs797044640
Max Magnitude0
ClinVar
Risk rs797044640(T;T)
Alt rs797044640(T;T)
Reference Rs797044640(-;-)
Significance Pathogenic
Disease Joubert syndrome 17
Variation info
Gene C5orf42
CLNDBN Joubert syndrome 17
Reversed 1
HGVS NC_000005.9:g.37226878dupA
CLNSRC
CLNACC RCV000174405.1,