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rs370715569

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs370715569(C;T)
Make rs370715569(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position121530887
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs370715569
ebirs370715569
HLIrs370715569
Exacrs370715569
Varsomers370715569
Maprs370715569
PheGenIrs370715569
hapmaprs370715569
1000 genomesrs370715569
hgdprs370715569
ensemblrs370715569
gopubmedrs370715569
geneviewrs370715569
scholarrs370715569
googlers370715569
pharmgkbrs370715569
gwascentralrs370715569
openSNPrs370715569
23andMers370715569
23andMe allrs370715569
SNP Nexus

SNPshotrs370715569
SNPdbers370715569
MSV3drs370715569
GWAS Ctlgrs370715569
Max Magnitude0
ClinVar
Risk rs370715569(T;T)
Alt rs370715569(T;T)
Reference rs370715569(C;C)
Significance Pathogenic
Disease Roifman syndrome
Variation info
Gene CLASP1 RNU4ATAC
CLNDBN Roifman syndrome
Reversed 0
HGVS NC_000002.11:g.122288463C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000202309.1,