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rs151190720

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151190720(C;T)
Make rs151190720(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183236593
GeneLAMC2
is asnp
is mentioned by
dbSNPrs151190720
dbSNP (classic)rs151190720
ClinGenrs151190720
ebirs151190720
HLIrs151190720
Exacrs151190720
Gnomadrs151190720
Varsomers151190720
LitVarrs151190720
Maprs151190720
PheGenIrs151190720
Biobankrs151190720
1000 genomesrs151190720
hgdprs151190720
ensemblrs151190720
geneviewrs151190720
scholarrs151190720
googlers151190720
pharmgkbrs151190720
gwascentralrs151190720
openSNPrs151190720
23andMers151190720
SNPshotrs151190720
SNPdbers151190720
MSV3drs151190720
GWAS Ctlgrs151190720
Max Magnitude0
ClinVar
Risk rs151190720(G;G) rs151190720(T;T)
Alt rs151190720(G;G) rs151190720(T;T)
Reference Rs151190720(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.183205728C>T
CLNSRC
CLNACC RCV000411449.1,