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rs1057516383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCTG;CCTG) 0 common in clinvar
Make rs1057516383(-;-)
Make rs1057516383(-;CTGC)
Make rs1057516383(CTGC;CTGC)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183235663
GeneLAMC2
is asnp
is mentioned by
dbSNPrs1057516383
dbSNP (old)rs1057516383
ClinGenrs1057516383
ebirs1057516383
HLIrs1057516383
Exacrs1057516383
Gnomadrs1057516383
Varsomers1057516383
LitVarrs1057516383
Maprs1057516383
PheGenIrs1057516383
Biobankrs1057516383
1000 genomesrs1057516383
hgdprs1057516383
ensemblrs1057516383
gopubmedrs1057516383
geneviewrs1057516383
scholarrs1057516383
googlers1057516383
pharmgkbrs1057516383
gwascentralrs1057516383
openSNPrs1057516383
23andMers1057516383
23andMe allrs1057516383
SNPshotrs1057516383
SNPdbers1057516383
MSV3drs1057516383
GWAS Ctlgrs1057516383
Max Magnitude0
ClinVar
Risk rs1057516383(-;-)
Alt rs1057516383(-;-)
Reference Rs1057516383(CCTG;CCTG)
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.183204798_183204801delCTGC
CLNSRC
CLNACC RCV000410161.1,