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rs786201020

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786201020(C;C)
Make rs786201020(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome20
Position2467305
GeneSNRPB
is asnp
is mentioned by
dbSNPrs786201020
ebirs786201020
HLIrs786201020
Exacrs786201020
Varsomers786201020
Maprs786201020
PheGenIrs786201020
hapmaprs786201020
1000 genomesrs786201020
hgdprs786201020
ensemblrs786201020
gopubmedrs786201020
geneviewrs786201020
scholarrs786201020
googlers786201020
pharmgkbrs786201020
gwascentralrs786201020
openSNPrs786201020
23andMers786201020
23andMe allrs786201020
SNP Nexus

SNPshotrs786201020
SNPdbers786201020
MSV3drs786201020
GWAS Ctlgrs786201020
Max Magnitude0
ClinVar
Risk rs786201020(C,T;C,T)
Alt rs786201020(C,T;C,T)
Reference rs786201020(G;G)
Significance Pathogenic
Disease Cerebro-costo-mandibular syndrome
Variation info
Gene SNRPB
CLNDBN Cerebro-costo-mandibular syndrome
Reversed 1
HGVS NC_000020.10:g.2447951C>A; NC_000020.10:g.2447951C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000162251.3, RCV000162250.3,