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rs374299350

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs374299350(A;A)
Make rs374299350(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position121530909
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs374299350
ebirs374299350
HLIrs374299350
Exacrs374299350
Varsomers374299350
Maprs374299350
PheGenIrs374299350
hapmaprs374299350
1000 genomesrs374299350
hgdprs374299350
ensemblrs374299350
gopubmedrs374299350
geneviewrs374299350
scholarrs374299350
googlers374299350
pharmgkbrs374299350
gwascentralrs374299350
openSNPrs374299350
23andMers374299350
23andMe allrs374299350
SNP Nexus

SNPshotrs374299350
SNPdbers374299350
MSV3drs374299350
GWAS Ctlgrs374299350
Max Magnitude0
ClinVar
Risk rs374299350(A,C;A,C)
Alt rs374299350(A,C;A,C)
Reference rs374299350(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.122288485G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023098.3,