Have questions? Visit https://www.reddit.com/r/SNPedia

rs750325275

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs750325275(A;A)
Make rs750325275(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position121530895
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs750325275
ebirs750325275
HLIrs750325275
Exacrs750325275
Varsomers750325275
Maprs750325275
PheGenIrs750325275
hapmaprs750325275
1000 genomesrs750325275
hgdprs750325275
ensemblrs750325275
gopubmedrs750325275
geneviewrs750325275
scholarrs750325275
googlers750325275
pharmgkbrs750325275
gwascentralrs750325275
openSNPrs750325275
23andMers750325275
23andMe allrs750325275
SNP Nexus

SNPshotrs750325275
SNPdbers750325275
MSV3drs750325275
GWAS Ctlgrs750325275
Max Magnitude0
ClinVar
Risk rs750325275(A;A)
Alt rs750325275(A;A)
Reference rs750325275(G;G)
Significance Pathogenic
Disease Roifman syndrome
Variation info
Gene CLASP1 RNU4ATAC
CLNDBN Roifman syndrome
Reversed 0
HGVS NC_000002.11:g.122288471G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000202313.1,