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

rs112140949

From SNPedia

Orientationplus
Stabilizedplus
Make rs112140949(C;C)
Make rs112140949(C;G)
Make rs112140949(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position3636426
GeneCTNS, SHPK
is asnp
is mentioned by
dbSNPrs112140949
dbSNP (classic)rs112140949
ClinGenrs112140949
ebirs112140949
HLIrs112140949
Exacrs112140949
Gnomadrs112140949
Varsomers112140949
LitVarrs112140949
Maprs112140949
PheGenIrs112140949
Biobankrs112140949
1000 genomesrs112140949
hgdprs112140949
ensemblrs112140949
geneviewrs112140949
scholarrs112140949
googlers112140949
pharmgkbrs112140949
gwascentralrs112140949
openSNPrs112140949
23andMers112140949
23andMe allrs112140949
SNPshotrs112140949
SNPdbers112140949
MSV3drs112140949
GWAS Ctlgrs112140949
Max Magnitude

[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.