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rs1057516487

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516487(A;A)
Make rs1057516487(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183232186
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057516487
dbSNP (old)rs1057516487
ClinGenrs1057516487
ebirs1057516487
HLIrs1057516487
Exacrs1057516487
Gnomadrs1057516487
Varsomers1057516487
Maprs1057516487
PheGenIrs1057516487
Biobankrs1057516487
1000 genomesrs1057516487
hgdprs1057516487
ensemblrs1057516487
gopubmedrs1057516487
geneviewrs1057516487
scholarrs1057516487
googlers1057516487
pharmgkbrs1057516487
gwascentralrs1057516487
openSNPrs1057516487
23andMers1057516487
23andMe allrs1057516487
SNPshotrs1057516487
SNPdbers1057516487
MSV3drs1057516487
GWAS Ctlgrs1057516487
Max Magnitude0
ClinVar
Risk rs1057516487(A;A)
Alt rs1057516487(A;A)
Reference Rs1057516487(G;G)
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.183201321G>A
CLNSRC
CLNACC RCV000411834.1,