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rs786201021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786201021(A;A)
Make rs786201021(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome20
Position2467201
GeneSNRPB
is asnp
is mentioned by
dbSNPrs786201021
dbSNP (classic)rs786201021
ClinGenrs786201021
ebirs786201021
HLIrs786201021
Exacrs786201021
Gnomadrs786201021
Varsomers786201021
LitVarrs786201021
Maprs786201021
PheGenIrs786201021
Biobankrs786201021
1000 genomesrs786201021
hgdprs786201021
ensemblrs786201021
geneviewrs786201021
scholarrs786201021
googlers786201021
pharmgkbrs786201021
gwascentralrs786201021
openSNPrs786201021
23andMers786201021
SNPshotrs786201021
SNPdbers786201021
MSV3drs786201021
GWAS Ctlgrs786201021
Max Magnitude0
ClinVar
Risk rs786201021(A;A)
Alt rs786201021(A;A)
Reference Rs786201021(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.2447847G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162252.3,