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rs727504292

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504292(C;C)
Make rs727504292(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position30672250
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs727504292
ebirs727504292
HLIrs727504292
Exacrs727504292
Varsomers727504292
Maprs727504292
PheGenIrs727504292
hapmaprs727504292
1000 genomesrs727504292
hgdprs727504292
ensemblrs727504292
gopubmedrs727504292
geneviewrs727504292
scholarrs727504292
googlers727504292
pharmgkbrs727504292
gwascentralrs727504292
openSNPrs727504292
23andMers727504292
23andMe allrs727504292
SNP Nexus

SNPshotrs727504292
SNPdbers727504292
MSV3drs727504292
GWAS Ctlgrs727504292
Max Magnitude0
ClinVar
Risk rs727504292(A,C;A,C)
Alt rs727504292(A,C;A,C)
Reference rs727504292(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30713742G>C
CLNSRC
CLNACC RCV000154307.1,