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rs757645341

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs757645341(A;A)
Make rs757645341(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position51915274
GeneACVRL1
is asnp
is mentioned by
dbSNPrs757645341
ebirs757645341
HLIrs757645341
Exacrs757645341
Varsomers757645341
Maprs757645341
PheGenIrs757645341
hapmaprs757645341
1000 genomesrs757645341
hgdprs757645341
ensemblrs757645341
gopubmedrs757645341
geneviewrs757645341
scholarrs757645341
googlers757645341
pharmgkbrs757645341
gwascentralrs757645341
openSNPrs757645341
23andMers757645341
23andMe allrs757645341
SNP Nexus

SNPshotrs757645341
SNPdbers757645341
MSV3drs757645341
GWAS Ctlgrs757645341
Max Magnitude0
ClinVar
Risk rs757645341(A;A)
Alt rs757645341(A;A)
Reference rs757645341(G;G)
Significance Pathogenic
Disease Hereditary hemorrhagic telangiectasia type 2
Variation info
Gene ACVRL1
CLNDBN Hereditary hemorrhagic telangiectasia type 2
Reversed 0
HGVS NC_000012.11:g.52309058G>A
CLNSRC
CLNACC RCV000231890.1,