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rs180755563

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs180755563(C;G)
Make rs180755563(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position121530932
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs180755563
ebirs180755563
HLIrs180755563
Exacrs180755563
Varsomers180755563
Maprs180755563
PheGenIrs180755563
hapmaprs180755563
1000 genomesrs180755563
hgdprs180755563
ensemblrs180755563
gopubmedrs180755563
geneviewrs180755563
scholarrs180755563
googlers180755563
pharmgkbrs180755563
gwascentralrs180755563
openSNPrs180755563
23andMers180755563
23andMe allrs180755563
SNP Nexus

SNPshotrs180755563
SNPdbers180755563
MSV3drs180755563
GWAS Ctlgrs180755563
Max Magnitude0
ClinVar
Risk rs180755563(G,T;G,T)
Alt rs180755563(G,T;G,T)
Reference rs180755563(C;C)
Significance Pathogenic
Disease Osteodysplastic primordial dwarfism
Variation info
Gene CLASP1 RNU4ATAC
CLNDBN Osteodysplastic primordial dwarfism, type 1
Reversed 0
HGVS NC_000002.11:g.122288508C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023101.3,