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rs121909582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909582(C;T)
Make rs121909582(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position7070184
GeneC1S
is asnp
is mentioned by
dbSNPrs121909582
ebirs121909582
HLIrs121909582
Exacrs121909582
Varsomers121909582
Maprs121909582
PheGenIrs121909582
hapmaprs121909582
1000 genomesrs121909582
hgdprs121909582
ensemblrs121909582
gopubmedrs121909582
geneviewrs121909582
scholarrs121909582
googlers121909582
pharmgkbrs121909582
gwascentralrs121909582
openSNPrs121909582
23andMers121909582
23andMe allrs121909582
SNP Nexus

SNPshotrs121909582
SNPdbers121909582
MSV3drs121909582
GWAS Ctlgrs121909582
Max Magnitude0
OMIM120580
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909582(T;T)
Alt rs121909582(T;T)
Reference rs121909582(C;C)
Significance Pathogenic
Disease Complement 1s deficiency
Variation info
Gene C1S
CLNDBN Complement 1s deficiency
Reversed 0
HGVS NC_000012.11:g.7177488C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018597.23,