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rs142328166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142328166(A;A)
Make rs142328166(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6085276
GeneFERMT1
is asnp
is mentioned by
dbSNPrs142328166
dbSNP (classic)rs142328166
ClinGenrs142328166
ebirs142328166
HLIrs142328166
Exacrs142328166
Gnomadrs142328166
Varsomers142328166
LitVarrs142328166
Maprs142328166
PheGenIrs142328166
Biobankrs142328166
1000 genomesrs142328166
hgdprs142328166
ensemblrs142328166
geneviewrs142328166
scholarrs142328166
googlers142328166
pharmgkbrs142328166
gwascentralrs142328166
openSNPrs142328166
23andMers142328166
SNPshotrs142328166
SNPdbers142328166
MSV3drs142328166
GWAS Ctlgrs142328166
Max Magnitude0
ClinVar
Risk rs142328166(A;A) rs142328166(T;T)
Alt rs142328166(A;A) rs142328166(T;T)
Reference Rs142328166(G;G)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 0
HGVS NC_000020.10:g.6065923G>T
CLNSRC
CLNACC RCV000209856.1,