Have questions? Visit https://www.reddit.com/r/SNPedia

rs544312701

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs544312701(A;A)
Make rs544312701(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position121531003
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs544312701
ebirs544312701
HLIrs544312701
Exacrs544312701
Varsomers544312701
Maprs544312701
PheGenIrs544312701
hapmaprs544312701
1000 genomesrs544312701
hgdprs544312701
ensemblrs544312701
gopubmedrs544312701
geneviewrs544312701
scholarrs544312701
googlers544312701
pharmgkbrs544312701
gwascentralrs544312701
openSNPrs544312701
23andMers544312701
23andMe allrs544312701
SNP Nexus

SNPshotrs544312701
SNPdbers544312701
MSV3drs544312701
GWAS Ctlgrs544312701
Max Magnitude0
ClinVar
Risk rs544312701(A;A)
Alt rs544312701(A;A)
Reference rs544312701(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.122288579G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032638.4,