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rs863225422

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225422(A;A)
Make rs863225422(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position121530927
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs863225422
ebirs863225422
HLIrs863225422
Exacrs863225422
Varsomers863225422
Maprs863225422
PheGenIrs863225422
hapmaprs863225422
1000 genomesrs863225422
hgdprs863225422
ensemblrs863225422
gopubmedrs863225422
geneviewrs863225422
scholarrs863225422
googlers863225422
pharmgkbrs863225422
gwascentralrs863225422
openSNPrs863225422
23andMers863225422
23andMe allrs863225422
SNP Nexus

SNPshotrs863225422
SNPdbers863225422
MSV3drs863225422
GWAS Ctlgrs863225422
Max Magnitude0
ClinVar
Risk rs863225422(A;A)
Alt rs863225422(A;A)
Reference rs863225422(G;G)
Significance Pathogenic
Disease Roifman syndrome
Variation info
Gene CLASP1 RNU4ATAC
CLNDBN Roifman syndrome
Reversed 0
HGVS NC_000002.11:g.122288503G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202314.1,