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rs757617349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs757617349(C;T)
Make rs757617349(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183222157
GeneLAMC2
is asnp
is mentioned by
dbSNPrs757617349
dbSNP (classic)rs757617349
ClinGenrs757617349
ebirs757617349
HLIrs757617349
Exacrs757617349
Gnomadrs757617349
Varsomers757617349
LitVarrs757617349
Maprs757617349
PheGenIrs757617349
Biobankrs757617349
1000 genomesrs757617349
hgdprs757617349
ensemblrs757617349
geneviewrs757617349
scholarrs757617349
googlers757617349
pharmgkbrs757617349
gwascentralrs757617349
openSNPrs757617349
23andMers757617349
SNPshotrs757617349
SNPdbers757617349
MSV3drs757617349
GWAS Ctlgrs757617349
Max Magnitude0
ClinVar
Risk rs757617349(A;A) rs757617349(T;T)
Alt rs757617349(A;A) rs757617349(T;T)
Reference Rs757617349(C;C)
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.183191292C>T
CLNSRC
CLNACC RCV000412046.1,