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rs587776770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776770(A;G)
Make rs587776770(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position30688382
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs587776770
ebirs587776770
HLIrs587776770
Exacrs587776770
Varsomers587776770
Maprs587776770
PheGenIrs587776770
hapmaprs587776770
1000 genomesrs587776770
hgdprs587776770
ensemblrs587776770
gopubmedrs587776770
geneviewrs587776770
scholarrs587776770
googlers587776770
pharmgkbrs587776770
gwascentralrs587776770
openSNPrs587776770
23andMers587776770
23andMe allrs587776770
SNP Nexus

SNPshotrs587776770
SNPdbers587776770
MSV3drs587776770
GWAS Ctlgrs587776770
Max Magnitude0
ClinVar
Risk rs587776770(G;G)
Alt rs587776770(G;G)
Reference rs587776770(A;A)
Significance Pathogenic
Disease Loeys-Dietz syndrome 2
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome 2
Reversed 0
HGVS NC_000003.11:g.30729874A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013341.17,