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rs587777610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777610(C;T)
Make rs587777610(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position139480847
GeneTMEM173
is asnp
is mentioned by
dbSNPrs587777610
ebirs587777610
HLIrs587777610
Exacrs587777610
Varsomers587777610
Maprs587777610
PheGenIrs587777610
hapmaprs587777610
1000 genomesrs587777610
hgdprs587777610
ensemblrs587777610
gopubmedrs587777610
geneviewrs587777610
scholarrs587777610
googlers587777610
pharmgkbrs587777610
gwascentralrs587777610
openSNPrs587777610
23andMers587777610
23andMe allrs587777610
SNP Nexus

SNPshotrs587777610
SNPdbers587777610
MSV3drs587777610
GWAS Ctlgrs587777610
Max Magnitude0
ClinVar
Risk rs587777610(C,T;C,T)
Alt rs587777610(C,T;C,T)
Reference rs587777610(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.138860432C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133401.3,