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rs1057517196

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(GCTA;GCTA) 0 common in clinvar
Make rs1057517196(CCT;CCT)
Make rs1057517196(CCT;GCTA)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23905614
GeneLAMA3
is asnp
is mentioned by
dbSNPrs1057517196
dbSNP (old)rs1057517196
ClinGenrs1057517196
ebirs1057517196
HLIrs1057517196
Exacrs1057517196
Gnomadrs1057517196
Varsomers1057517196
Maprs1057517196
PheGenIrs1057517196
Biobankrs1057517196
1000 genomesrs1057517196
hgdprs1057517196
ensemblrs1057517196
gopubmedrs1057517196
geneviewrs1057517196
scholarrs1057517196
googlers1057517196
pharmgkbrs1057517196
gwascentralrs1057517196
openSNPrs1057517196
23andMers1057517196
23andMe allrs1057517196
SNPshotrs1057517196
SNPdbers1057517196
MSV3drs1057517196
GWAS Ctlgrs1057517196
Max Magnitude0
ClinVar
Risk rs1057517196(CCT;CCT)
Alt rs1057517196(CCT;CCT)
Reference Rs1057517196(GCTA;GCTA)
Significance Probable-Pathogenic
Disease Junctional epidermolysis bullosa gravis of Herlitz
Variation info
Gene LAMA3
CLNDBN Junctional epidermolysis bullosa gravis of Herlitz
Reversed 0
HGVS NC_000018.9:g.21485578_21485581delGCTAinsCCT
CLNSRC
CLNACC RCV000409194.1,