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rs1057517235

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517235(-;-)
Make rs1057517235(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23881975
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057517235
dbSNP (old)rs1057517235
ClinGenrs1057517235
ebirs1057517235
HLIrs1057517235
Exacrs1057517235
Gnomadrs1057517235
Varsomers1057517235
Maprs1057517235
PheGenIrs1057517235
Biobankrs1057517235
1000 genomesrs1057517235
hgdprs1057517235
ensemblrs1057517235
gopubmedrs1057517235
geneviewrs1057517235
scholarrs1057517235
googlers1057517235
pharmgkbrs1057517235
gwascentralrs1057517235
openSNPrs1057517235
23andMers1057517235
23andMe allrs1057517235
SNPshotrs1057517235
SNPdbers1057517235
MSV3drs1057517235
GWAS Ctlgrs1057517235
Max Magnitude0
ClinVar
Risk rs1057517235(-;-)
Alt rs1057517235(-;-)
Reference Rs1057517235(T;T)
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.21461939delT
CLNSRC
CLNACC RCV000411011.1,