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rs786201022

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786201022(A;A)
Make rs786201022(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome20
Position2470762
GeneSNRPB
is asnp
is mentioned by
dbSNPrs786201022
ebirs786201022
HLIrs786201022
Exacrs786201022
Varsomers786201022
Maprs786201022
PheGenIrs786201022
hapmaprs786201022
1000 genomesrs786201022
hgdprs786201022
ensemblrs786201022
gopubmedrs786201022
geneviewrs786201022
scholarrs786201022
googlers786201022
pharmgkbrs786201022
gwascentralrs786201022
openSNPrs786201022
23andMers786201022
23andMe allrs786201022
SNP Nexus

SNPshotrs786201022
SNPdbers786201022
MSV3drs786201022
GWAS Ctlgrs786201022
Max Magnitude0
ClinVar
Risk rs786201022(A;A)
Alt rs786201022(A;A)
Reference rs786201022(C;C)
Significance Pathogenic
Disease Cerebro-costo-mandibular syndrome
Variation info
Gene SNRPB
CLNDBN Cerebro-costo-mandibular syndrome
Reversed 1
HGVS NC_000020.10:g.2451408G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162253.3,