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rs587777611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777611(C;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position139480871
GeneTMEM173
is asnp
is mentioned by
dbSNPrs587777611
ebirs587777611
HLIrs587777611
Exacrs587777611
Varsomers587777611
Maprs587777611
PheGenIrs587777611
hapmaprs587777611
1000 genomesrs587777611
hgdprs587777611
ensemblrs587777611
gopubmedrs587777611
geneviewrs587777611
scholarrs587777611
googlers587777611
pharmgkbrs587777611
gwascentralrs587777611
openSNPrs587777611
23andMers587777611
23andMe allrs587777611
SNP Nexus

SNPshotrs587777611
SNPdbers587777611
MSV3drs587777611
GWAS Ctlgrs587777611
Max Magnitude0
ClinVar
Risk rs587777611(C;C)
Alt rs587777611(C;C)
Reference rs587777611(G;G)
Significance Pathogenic
Disease Sting-associated vasculopathy
Variation info
Gene TMEM173
CLNDBN Sting-associated vasculopathy, infantile-onset
Reversed 1
HGVS NC_000005.9:g.138860456C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000133402.3,