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rs756026847

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756026847(A;A)
Make rs756026847(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position121530916
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs756026847
ebirs756026847
HLIrs756026847
Exacrs756026847
Varsomers756026847
Maprs756026847
PheGenIrs756026847
hapmaprs756026847
1000 genomesrs756026847
hgdprs756026847
ensemblrs756026847
gopubmedrs756026847
geneviewrs756026847
scholarrs756026847
googlers756026847
pharmgkbrs756026847
gwascentralrs756026847
openSNPrs756026847
23andMers756026847
23andMe allrs756026847
SNP Nexus

SNPshotrs756026847
SNPdbers756026847
MSV3drs756026847
GWAS Ctlgrs756026847
Max Magnitude0
ClinVar
Risk rs756026847(A,C;A,C)
Alt rs756026847(A,C;A,C)
Reference rs756026847(G;G)
Significance Pathogenic
Disease Roifman syndrome
Variation info
Gene CLASP1 RNU4ATAC
CLNDBN Roifman syndrome
Reversed 0
HGVS NC_000002.11:g.122288492G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202311.1,