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rs1057517181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517181(-;-)
Make rs1057517181(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183220858
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057517181
dbSNP (old)rs1057517181
ClinGenrs1057517181
ebirs1057517181
HLIrs1057517181
Exacrs1057517181
Gnomadrs1057517181
Varsomers1057517181
Maprs1057517181
PheGenIrs1057517181
Biobankrs1057517181
1000 genomesrs1057517181
hgdprs1057517181
ensemblrs1057517181
gopubmedrs1057517181
geneviewrs1057517181
scholarrs1057517181
googlers1057517181
pharmgkbrs1057517181
gwascentralrs1057517181
openSNPrs1057517181
23andMers1057517181
23andMe allrs1057517181
SNPshotrs1057517181
SNPdbers1057517181
MSV3drs1057517181
GWAS Ctlgrs1057517181
Max Magnitude0
ClinVar
Risk rs1057517181(-;-)
Alt rs1057517181(-;-)
Reference Rs1057517181(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.183189993delG
CLNSRC
CLNACC RCV000410004.1,