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rs779612399

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs779612399(G;G)
Make rs779612399(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6097592
GeneFERMT1
is asnp
is mentioned by
dbSNPrs779612399
dbSNP (classic)rs779612399
ClinGenrs779612399
ebirs779612399
HLIrs779612399
Exacrs779612399
Gnomadrs779612399
Varsomers779612399
LitVarrs779612399
Maprs779612399
PheGenIrs779612399
Biobankrs779612399
1000 genomesrs779612399
hgdprs779612399
ensemblrs779612399
geneviewrs779612399
scholarrs779612399
googlers779612399
pharmgkbrs779612399
gwascentralrs779612399
openSNPrs779612399
23andMers779612399
SNPshotrs779612399
SNPdbers779612399
MSV3drs779612399
GWAS Ctlgrs779612399
Max Magnitude0
ClinVar
Risk rs779612399(C;C) rs779612399(G;G)
Alt rs779612399(C;C) rs779612399(G;G)
Reference Rs779612399(T;T)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 0
HGVS NC_000020.10:g.6078239T>C
CLNSRC
CLNACC RCV000209904.1,