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rs377619732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs377619732(A;A)
Make rs377619732(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position121530945
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs377619732
ClinGenrs377619732
ebirs377619732
HLIrs377619732
Exacrs377619732
Varsomers377619732
Maprs377619732
PheGenIrs377619732
hapmaprs377619732
1000 genomesrs377619732
hgdprs377619732
ensemblrs377619732
gopubmedrs377619732
geneviewrs377619732
scholarrs377619732
googlers377619732
pharmgkbrs377619732
gwascentralrs377619732
openSNPrs377619732
23andMers377619732
23andMe allrs377619732
SNP Nexus

SNPshotrs377619732
SNPdbers377619732
MSV3drs377619732
GWAS Ctlgrs377619732
Max Magnitude0
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar
Risk rs377619732(A;A) rs377619732(C;C)
Alt rs377619732(A;A) rs377619732(C;C)
Reference Rs377619732(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.122288521G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032637.3,