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rs1057516410

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516410(C;C)
Make rs1057516410(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183218489
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057516410
dbSNP (old)rs1057516410
ClinGenrs1057516410
ebirs1057516410
HLIrs1057516410
Exacrs1057516410
Gnomadrs1057516410
Varsomers1057516410
Maprs1057516410
PheGenIrs1057516410
Biobankrs1057516410
1000 genomesrs1057516410
hgdprs1057516410
ensemblrs1057516410
gopubmedrs1057516410
geneviewrs1057516410
scholarrs1057516410
googlers1057516410
pharmgkbrs1057516410
gwascentralrs1057516410
openSNPrs1057516410
23andMers1057516410
23andMe allrs1057516410
SNPshotrs1057516410
SNPdbers1057516410
MSV3drs1057516410
GWAS Ctlgrs1057516410
Max Magnitude0
ClinVar
Risk rs1057516410(C;C)
Alt rs1057516410(C;C)
Reference Rs1057516410(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.183187624G>C
CLNSRC
CLNACC RCV000410904.1,