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rs188343279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs188343279(A;A)
Make rs188343279(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position121530930
GeneCLASP1, RNU4ATAC
is asnp
is mentioned by
dbSNPrs188343279
ClinGenrs188343279
ebirs188343279
HLIrs188343279
Exacrs188343279
Varsomers188343279
Maprs188343279
PheGenIrs188343279
hapmaprs188343279
1000 genomesrs188343279
hgdprs188343279
ensemblrs188343279
gopubmedrs188343279
geneviewrs188343279
scholarrs188343279
googlers188343279
pharmgkbrs188343279
gwascentralrs188343279
openSNPrs188343279
23andMers188343279
23andMe allrs188343279
SNP Nexus

SNPshotrs188343279
SNPdbers188343279
MSV3drs188343279
GWAS Ctlgrs188343279
Max Magnitude0
[PMID 27569544OA-icon.png] 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 rs188343279(A;A)
Alt rs188343279(A;A)
Reference Rs188343279(G;G)
Significance Pathogenic
Disease Osteodysplastic primordial dwarfism Roifman syndrome
Variation info
Gene CLASP1 RNU4ATAC
CLNDBN Osteodysplastic primordial dwarfism, type 1 Roifman syndrome
Reversed 0
HGVS NC_000002.11:g.122288506G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023096.5, RCV000202312.2,