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rs863225423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225423(C;C)
Make rs863225423(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position121530997
GeneCLASP1, LOC107985942, RNU4ATAC
is asnp
is mentioned by
dbSNPrs863225423
dbSNP (old)rs863225423
ClinGenrs863225423
ebirs863225423
HLIrs863225423
Exacrs863225423
Varsomers863225423
Maprs863225423
PheGenIrs863225423
Biobankrs863225423
1000 genomesrs863225423
hgdprs863225423
ensemblrs863225423
gopubmedrs863225423
geneviewrs863225423
scholarrs863225423
googlers863225423
pharmgkbrs863225423
gwascentralrs863225423
openSNPrs863225423
23andMers863225423
23andMe allrs863225423
SNP Nexus

SNPshotrs863225423
SNPdbers863225423
MSV3drs863225423
GWAS Ctlgrs863225423
Max Magnitude0
[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs863225423(C;C)
Alt rs863225423(C;C)
Reference Rs863225423(T;T)
Significance Pathogenic
Disease Roifman syndrome
Variation info
Gene CLASP1 RNU4ATAC
CLNDBN Roifman syndrome
Reversed 0
HGVS NC_000002.11:g.122288573T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000202310.2,