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rs1057516569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1057516569(-;-)
Make rs1057516569(-;AG)
Make rs1057516569(AG;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183232299
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057516569
dbSNP (old)rs1057516569
ClinGenrs1057516569
ebirs1057516569
HLIrs1057516569
Exacrs1057516569
Gnomadrs1057516569
Varsomers1057516569
Maprs1057516569
PheGenIrs1057516569
Biobankrs1057516569
1000 genomesrs1057516569
hgdprs1057516569
ensemblrs1057516569
gopubmedrs1057516569
geneviewrs1057516569
scholarrs1057516569
googlers1057516569
pharmgkbrs1057516569
gwascentralrs1057516569
openSNPrs1057516569
23andMers1057516569
23andMe allrs1057516569
SNPshotrs1057516569
SNPdbers1057516569
MSV3drs1057516569
GWAS Ctlgrs1057516569
Max Magnitude0
ClinVar
Risk rs1057516569(-;-)
Alt rs1057516569(-;-)
Reference Rs1057516569(GA;GA)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMC2
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000001.10:g.183201434_183201435delAG
CLNSRC
CLNACC RCV000411591.1,