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rs751952525

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs751952525(-;G)
Make rs751952525(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position201626118
GeneTMEM237
is asnp
is mentioned by
dbSNPrs751952525
dbSNP (classic)rs751952525
ClinGenrs751952525
ebirs751952525
HLIrs751952525
Exacrs751952525
Gnomadrs751952525
Varsomers751952525
LitVarrs751952525
Maprs751952525
PheGenIrs751952525
Biobankrs751952525
1000 genomesrs751952525
hgdprs751952525
ensemblrs751952525
geneviewrs751952525
scholarrs751952525
googlers751952525
pharmgkbrs751952525
gwascentralrs751952525
openSNPrs751952525
23andMers751952525
SNPshotrs751952525
SNPdbers751952525
MSV3drs751952525
GWAS Ctlgrs751952525
Max Magnitude0
ClinVar
Risk rs751952525(G;G)
Alt rs751952525(G;G)
Reference Rs751952525(-;-)
Significance Pathogenic
Disease Joubert syndrome 14
Variation info
Gene TMEM237
CLNDBN Joubert syndrome 14
Reversed 0
HGVS NC_000002.11:g.202490842dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000024181.4,