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rs397514609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514609(A;A)
Make rs397514609(A;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position75556198
GeneTMEM231
is asnp
is mentioned by
dbSNPrs397514609
ebirs397514609
HLIrs397514609
Exacrs397514609
Varsomers397514609
Maprs397514609
PheGenIrs397514609
hapmaprs397514609
1000 genomesrs397514609
hgdprs397514609
ensemblrs397514609
gopubmedrs397514609
geneviewrs397514609
scholarrs397514609
googlers397514609
pharmgkbrs397514609
gwascentralrs397514609
openSNPrs397514609
23andMers397514609
23andMe allrs397514609
SNP Nexus

SNPshotrs397514609
SNPdbers397514609
MSV3drs397514609
GWAS Ctlgrs397514609
Max Magnitude0
ClinVar
Risk rs397514609(A,C;A,C)
Alt rs397514609(A,C;A,C)
Reference rs397514609(T;T)
Significance Pathogenic
Disease Joubert syndrome 20
Variation info
Gene TMEM231
CLNDBN Joubert syndrome 20
Reversed 1
HGVS NC_000016.9:g.75590096A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033041.2,