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rs747809412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs747809412(A;A)
Make rs747809412(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position52033589
GeneSGCB
is asnp
is mentioned by
dbSNPrs747809412
dbSNP (classic)rs747809412
ClinGenrs747809412
ebirs747809412
HLIrs747809412
Exacrs747809412
Gnomadrs747809412
Varsomers747809412
LitVarrs747809412
Maprs747809412
PheGenIrs747809412
Biobankrs747809412
1000 genomesrs747809412
hgdprs747809412
ensemblrs747809412
geneviewrs747809412
scholarrs747809412
googlers747809412
pharmgkbrs747809412
gwascentralrs747809412
openSNPrs747809412
23andMers747809412
SNPshotrs747809412
SNPdbers747809412
MSV3drs747809412
GWAS Ctlgrs747809412
Max Magnitude0
ClinVar
Risk rs747809412(A;A)
Alt rs747809412(A;A)
Reference Rs747809412(T;T)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCB
CLNDBN Limb-girdle muscular dystrophy, type 2E
Reversed 0
HGVS NC_000004.11:g.52899755T>A
CLNSRC
CLNACC RCV000411828.1,