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rs1057516764

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516764(A;A)
Make rs1057516764(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23928765
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057516764
dbSNP (old)rs1057516764
ClinGenrs1057516764
ebirs1057516764
HLIrs1057516764
Exacrs1057516764
Gnomadrs1057516764
Varsomers1057516764
Maprs1057516764
PheGenIrs1057516764
Biobankrs1057516764
1000 genomesrs1057516764
hgdprs1057516764
ensemblrs1057516764
gopubmedrs1057516764
geneviewrs1057516764
scholarrs1057516764
googlers1057516764
pharmgkbrs1057516764
gwascentralrs1057516764
openSNPrs1057516764
23andMers1057516764
23andMe allrs1057516764
SNPshotrs1057516764
SNPdbers1057516764
MSV3drs1057516764
GWAS Ctlgrs1057516764
Max Magnitude0
ClinVar
Risk rs1057516764(A;A)
Alt rs1057516764(A;A)
Reference Rs1057516764(G;G)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMA3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000018.9:g.21508729G>A
CLNSRC
CLNACC RCV000412371.1,