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rs575472572

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs575472572(A;A)
Make rs575472572(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position121530934
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs575472572
ebirs575472572
HLIrs575472572
Exacrs575472572
Varsomers575472572
Maprs575472572
PheGenIrs575472572
hapmaprs575472572
1000 genomesrs575472572
hgdprs575472572
ensemblrs575472572
gopubmedrs575472572
geneviewrs575472572
scholarrs575472572
googlers575472572
pharmgkbrs575472572
gwascentralrs575472572
openSNPrs575472572
23andMers575472572
23andMe allrs575472572
SNP Nexus

SNPshotrs575472572
SNPdbers575472572
MSV3drs575472572
GWAS Ctlgrs575472572
Max Magnitude0
ClinVar
Risk rs575472572(A;A)
Alt rs575472572(A;A)
Reference rs575472572(G;G)
Significance Pathogenic
Disease Osteodysplastic primordial dwarfism
Variation info
Gene CLASP1 RNU4ATAC
CLNDBN Osteodysplastic primordial dwarfism, type 1
Reversed 0
HGVS NC_000002.11:g.122288510G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023097.4,