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rs559979281

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs559979281(C;T)
Make rs559979281(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position121530892
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs559979281
ebirs559979281
HLIrs559979281
Exacrs559979281
Varsomers559979281
Maprs559979281
PheGenIrs559979281
hapmaprs559979281
1000 genomesrs559979281
hgdprs559979281
ensemblrs559979281
gopubmedrs559979281
geneviewrs559979281
scholarrs559979281
googlers559979281
pharmgkbrs559979281
gwascentralrs559979281
openSNPrs559979281
23andMers559979281
23andMe allrs559979281
SNP Nexus

SNPshotrs559979281
SNPdbers559979281
MSV3drs559979281
GWAS Ctlgrs559979281
Max Magnitude0
ClinVar
Risk rs559979281(T;T)
Alt rs559979281(T;T)
Reference rs559979281(C;C)
Significance Pathogenic
Disease Roifman syndrome
Variation info
Gene CLASP1 RNU4ATAC
CLNDBN Roifman syndrome
Reversed 0
HGVS NC_000002.11:g.122288468C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000202315.1,