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rs750436680

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs750436680(C;T)
Make rs750436680(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position41354765
GeneB9D2, TGFB1
is asnp
is mentioned by
dbSNPrs750436680
ebirs750436680
HLIrs750436680
Exacrs750436680
Varsomers750436680
Maprs750436680
PheGenIrs750436680
hapmaprs750436680
1000 genomesrs750436680
hgdprs750436680
ensemblrs750436680
gopubmedrs750436680
geneviewrs750436680
scholarrs750436680
googlers750436680
pharmgkbrs750436680
gwascentralrs750436680
openSNPrs750436680
23andMers750436680
23andMe allrs750436680
SNP Nexus

SNPshotrs750436680
SNPdbers750436680
MSV3drs750436680
GWAS Ctlgrs750436680
Max Magnitude0
ClinVar
Risk rs750436680(T;T)
Alt rs750436680(T;T)
Reference rs750436680(C;C)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene B9D2 TGFB1 TMEM91
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000019.9:g.41860670C>T
CLNSRC
CLNACC RCV000201776.1,