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rs786201019

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786201019(C;C)
Make rs786201019(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome20
Position2467306
GeneSNRPB
is asnp
is mentioned by
dbSNPrs786201019
ebirs786201019
HLIrs786201019
Exacrs786201019
Varsomers786201019
Maprs786201019
PheGenIrs786201019
hapmaprs786201019
1000 genomesrs786201019
hgdprs786201019
ensemblrs786201019
gopubmedrs786201019
geneviewrs786201019
scholarrs786201019
googlers786201019
pharmgkbrs786201019
gwascentralrs786201019
openSNPrs786201019
23andMers786201019
23andMe allrs786201019
SNP Nexus

SNPshotrs786201019
SNPdbers786201019
MSV3drs786201019
GWAS Ctlgrs786201019
Max Magnitude0
ClinVar
Risk rs786201019(C;C)
Alt rs786201019(C;C)
Reference rs786201019(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.2447952C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000162249.3,