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rs587777609

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777609(C;C)
Make rs587777609(C;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position139480849
GeneTMEM173
is asnp
is mentioned by
dbSNPrs587777609
ebirs587777609
HLIrs587777609
Exacrs587777609
Varsomers587777609
Maprs587777609
PheGenIrs587777609
hapmaprs587777609
1000 genomesrs587777609
hgdprs587777609
ensemblrs587777609
gopubmedrs587777609
geneviewrs587777609
scholarrs587777609
googlers587777609
pharmgkbrs587777609
gwascentralrs587777609
openSNPrs587777609
23andMers587777609
23andMe allrs587777609
SNP Nexus

SNPshotrs587777609
SNPdbers587777609
MSV3drs587777609
GWAS Ctlgrs587777609
Max Magnitude0
ClinVar
Risk rs587777609(C,T;C,T)
Alt rs587777609(C,T;C,T)
Reference rs587777609(A;A)
Significance Pathogenic
Disease Sting-associated vasculopathy
Variation info
Gene TMEM173
CLNDBN Sting-associated vasculopathy, infantile-onset
Reversed 1
HGVS NC_000005.9:g.138860434T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000133400.2,