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rs373478202

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs373478202(A;A)
Make rs373478202(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position19347840
GeneB9D1
is asnp
is mentioned by
dbSNPrs373478202
ebirs373478202
HLIrs373478202
Exacrs373478202
Varsomers373478202
Maprs373478202
PheGenIrs373478202
hapmaprs373478202
1000 genomesrs373478202
hgdprs373478202
ensemblrs373478202
gopubmedrs373478202
geneviewrs373478202
scholarrs373478202
googlers373478202
pharmgkbrs373478202
gwascentralrs373478202
openSNPrs373478202
23andMers373478202
23andMe allrs373478202
SNP Nexus

SNPshotrs373478202
SNPdbers373478202
MSV3drs373478202
GWAS Ctlgrs373478202
Max Magnitude0
ClinVar
Risk rs373478202(A,C,T;A,C,T)
Alt rs373478202(A,C,T;A,C,T)
Reference rs373478202(G;G)
Significance Pathogenic
Disease Joubert syndrome
Variation info
Gene B9D1
CLNDBN Joubert syndrome
Reversed 0
HGVS NC_000017.10:g.19251153G>T
CLNSRC
CLNACC RCV000201768.1,