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rs863225150

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225150(C;T)
Make rs863225150(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41355008
GeneB9D2, TGFB1
is asnp
is mentioned by
dbSNPrs863225150
ebirs863225150
HLIrs863225150
Exacrs863225150
Varsomers863225150
Maprs863225150
PheGenIrs863225150
hapmaprs863225150
1000 genomesrs863225150
hgdprs863225150
ensemblrs863225150
gopubmedrs863225150
geneviewrs863225150
scholarrs863225150
googlers863225150
pharmgkbrs863225150
gwascentralrs863225150
openSNPrs863225150
23andMers863225150
23andMe allrs863225150
SNP Nexus

SNPshotrs863225150
SNPdbers863225150
MSV3drs863225150
GWAS Ctlgrs863225150
Max Magnitude0
ClinVar
Risk rs863225150(T;T)
Alt rs863225150(T;T)
Reference rs863225150(C;C)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene B9D2 TGFB1 TMEM91
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000019.9:g.41860913G>A
CLNSRC
CLNACC RCV000201694.1,