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rs1057517159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517159(-;G)
Make rs1057517159(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183240117
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057517159
dbSNP (old)rs1057517159
ClinGenrs1057517159
ebirs1057517159
HLIrs1057517159
Exacrs1057517159
Gnomadrs1057517159
Varsomers1057517159
LitVarrs1057517159
Maprs1057517159
PheGenIrs1057517159
Biobankrs1057517159
1000 genomesrs1057517159
hgdprs1057517159
ensemblrs1057517159
gopubmedrs1057517159
geneviewrs1057517159
scholarrs1057517159
googlers1057517159
pharmgkbrs1057517159
gwascentralrs1057517159
openSNPrs1057517159
23andMers1057517159
23andMe allrs1057517159
SNPshotrs1057517159
SNPdbers1057517159
MSV3drs1057517159
GWAS Ctlgrs1057517159
Max Magnitude0
ClinVar
Risk rs1057517159(G;G)
Alt rs1057517159(G;G)
Reference Rs1057517159(-;-)
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.183209252dupG
CLNSRC
CLNACC RCV000409389.1,