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rs763500364

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs763500364(A;A)
Make rs763500364(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position121530990
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs763500364
ebirs763500364
HLIrs763500364
Exacrs763500364
Varsomers763500364
Maprs763500364
PheGenIrs763500364
hapmaprs763500364
1000 genomesrs763500364
hgdprs763500364
ensemblrs763500364
gopubmedrs763500364
geneviewrs763500364
scholarrs763500364
googlers763500364
pharmgkbrs763500364
gwascentralrs763500364
openSNPrs763500364
23andMers763500364
23andMe allrs763500364
SNP Nexus

SNPshotrs763500364
SNPdbers763500364
MSV3drs763500364
GWAS Ctlgrs763500364
Max Magnitude0
ClinVar
Risk rs763500364(A;A)
Alt rs763500364(A;A)
Reference rs763500364(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.122288566G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023099.4,