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rs387907131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907131(C;T)
Make rs387907131(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position201640264
GeneTMEM237
is asnp
is mentioned by
dbSNPrs387907131
ebirs387907131
HLIrs387907131
Exacrs387907131
Varsomers387907131
Maprs387907131
PheGenIrs387907131
hapmaprs387907131
1000 genomesrs387907131
hgdprs387907131
ensemblrs387907131
gopubmedrs387907131
geneviewrs387907131
scholarrs387907131
googlers387907131
pharmgkbrs387907131
gwascentralrs387907131
openSNPrs387907131
23andMers387907131
23andMe allrs387907131
SNP Nexus

SNPshotrs387907131
SNPdbers387907131
MSV3drs387907131
GWAS Ctlgrs387907131
Max Magnitude0
ClinVar
Risk rs387907131(T;T)
Alt rs387907131(T;T)
Reference rs387907131(C;C)
Significance Pathogenic
Disease Joubert syndrome 14
Variation info
Gene TMEM237
CLNDBN Joubert syndrome 14
Reversed 1
HGVS NC_000002.11:g.202504987G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024182.4,