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rs181195449

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs181195449(C;C)
Make rs181195449(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position121530929
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs181195449
ebirs181195449
HLIrs181195449
Exacrs181195449
Varsomers181195449
Maprs181195449
PheGenIrs181195449
hapmaprs181195449
1000 genomesrs181195449
hgdprs181195449
ensemblrs181195449
gopubmedrs181195449
geneviewrs181195449
scholarrs181195449
googlers181195449
pharmgkbrs181195449
gwascentralrs181195449
openSNPrs181195449
23andMers181195449
23andMe allrs181195449
SNP Nexus

SNPshotrs181195449
SNPdbers181195449
MSV3drs181195449
GWAS Ctlgrs181195449
Max Magnitude0
ClinVar
Risk rs181195449(A,C;A,C)
Alt rs181195449(A,C;A,C)
Reference rs181195449(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.122288505G>A; NC_000002.11:g.122288505G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023102.3, RCV000023100.3,