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rs727504421

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504421(G;T)
Make rs727504421(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position30691465
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs727504421
ebirs727504421
HLIrs727504421
Exacrs727504421
Varsomers727504421
Maprs727504421
PheGenIrs727504421
hapmaprs727504421
1000 genomesrs727504421
hgdprs727504421
ensemblrs727504421
gopubmedrs727504421
geneviewrs727504421
scholarrs727504421
googlers727504421
pharmgkbrs727504421
gwascentralrs727504421
openSNPrs727504421
23andMers727504421
23andMe allrs727504421
SNP Nexus

SNPshotrs727504421
SNPdbers727504421
MSV3drs727504421
GWAS Ctlgrs727504421
Max Magnitude0
ClinVar
Risk rs727504421(A,T;A,T)
Alt rs727504421(A,T;A,T)
Reference rs727504421(G;G)
Significance Pathogenic
Disease Loeys-Dietz syndrome not provided not specified
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome not provided not specified
Reversed 0
HGVS NC_000003.11:g.30732957G>A; NC_000003.11:g.30732957G>T
CLNSRC
CLNACC RCV000157520.1, RCV000225734.1, RCV000154616.1,