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rs112371422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112371422(C;T)
Make rs112371422(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position189007569
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs112371422
ebirs112371422
HLIrs112371422
Exacrs112371422
Varsomers112371422
Maprs112371422
PheGenIrs112371422
hapmaprs112371422
1000 genomesrs112371422
hgdprs112371422
ensemblrs112371422
gopubmedrs112371422
geneviewrs112371422
scholarrs112371422
googlers112371422
pharmgkbrs112371422
gwascentralrs112371422
openSNPrs112371422
23andMers112371422
23andMe allrs112371422
SNP Nexus

SNPshotrs112371422
SNPdbers112371422
MSV3drs112371422
GWAS Ctlgrs112371422
Max Magnitude0
ClinVar
Risk rs112371422(G,T;G,T)
Alt rs112371422(G,T;G,T)
Reference rs112371422(C;C)
Significance Pathogenic
Disease not specified Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN not specified Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189872295C>G; NC_000002.11:g.189872295C>T
CLNSRC ClinVar
CLNACC RCV000181110.2, RCV000087665.1,