Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057518684

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518684(A;A)
Make rs1057518684(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position218405280
GeneTGFB2
is asnp
is mentioned by
dbSNPrs1057518684
dbSNP (old)rs1057518684
ClinGenrs1057518684
ebirs1057518684
HLIrs1057518684
Exacrs1057518684
Gnomadrs1057518684
Varsomers1057518684
Maprs1057518684
PheGenIrs1057518684
Biobankrs1057518684
1000 genomesrs1057518684
hgdprs1057518684
ensemblrs1057518684
gopubmedrs1057518684
geneviewrs1057518684
scholarrs1057518684
googlers1057518684
pharmgkbrs1057518684
gwascentralrs1057518684
openSNPrs1057518684
23andMers1057518684
23andMe allrs1057518684
SNPshotrs1057518684
SNPdbers1057518684
MSV3drs1057518684
GWAS Ctlgrs1057518684
Max Magnitude0
ClinVar
Risk rs1057518684(A;A)
Alt rs1057518684(A;A)
Reference Rs1057518684(G;G)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome 4
Variation info
Gene TGFB2
CLNDBN Loeys-Dietz syndrome 4
Reversed 0
HGVS NC_000001.10:g.218578622G>A
CLNSRC
CLNACC RCV000414990.1,