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rs774080932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs774080932(C;C)
Make rs774080932(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position183230960
GeneLAMC2
is asnp
is mentioned by
dbSNPrs774080932
dbSNP (classic)rs774080932
ClinGenrs774080932
ebirs774080932
HLIrs774080932
Exacrs774080932
Gnomadrs774080932
Varsomers774080932
LitVarrs774080932
Maprs774080932
PheGenIrs774080932
Biobankrs774080932
1000 genomesrs774080932
hgdprs774080932
ensemblrs774080932
geneviewrs774080932
scholarrs774080932
googlers774080932
pharmgkbrs774080932
gwascentralrs774080932
openSNPrs774080932
23andMers774080932
SNPshotrs774080932
SNPdbers774080932
MSV3drs774080932
GWAS Ctlgrs774080932
Max Magnitude0
ClinVar
Risk rs774080932(C;C)
Alt rs774080932(C;C)
Reference Rs774080932(G;G)
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.183200095G>C
CLNSRC
CLNACC RCV000409444.1,