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rs118203901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203901(C;T)
Make rs118203901(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position183222181
GeneLAMC2
is asnp
is mentioned by
dbSNPrs118203901
ebirs118203901
HLIrs118203901
Exacrs118203901
Varsomers118203901
Maprs118203901
PheGenIrs118203901
hapmaprs118203901
1000 genomesrs118203901
hgdprs118203901
ensemblrs118203901
gopubmedrs118203901
geneviewrs118203901
scholarrs118203901
googlers118203901
pharmgkbrs118203901
gwascentralrs118203901
openSNPrs118203901
23andMers118203901
23andMe allrs118203901
SNP Nexus

SNPshotrs118203901
SNPdbers118203901
MSV3drs118203901
GWAS Ctlgrs118203901
Max Magnitude0
OMIM150292
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118203901(T;T)
Alt rs118203901(T;T)
Reference rs118203901(C;C)
Significance Pathogenic
Disease Adult junctional epidermolysis bullosa
Variation info
Gene LAMC2
CLNDBN Adult junctional epidermolysis bullosa
Reversed 0
HGVS NC_000001.10:g.183191316C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015660.25,