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rs869312726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312726(A;A)
Make rs869312726(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6097034
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312726
dbSNP (classic)rs869312726
ClinGenrs869312726
ebirs869312726
HLIrs869312726
Exacrs869312726
Gnomadrs869312726
Varsomers869312726
LitVarrs869312726
Maprs869312726
PheGenIrs869312726
Biobankrs869312726
1000 genomesrs869312726
hgdprs869312726
ensemblrs869312726
geneviewrs869312726
scholarrs869312726
googlers869312726
pharmgkbrs869312726
gwascentralrs869312726
openSNPrs869312726
23andMers869312726
SNPshotrs869312726
SNPdbers869312726
MSV3drs869312726
GWAS Ctlgrs869312726
Max Magnitude0
ClinVar
Risk rs869312726(A;A)
Alt rs869312726(A;A)
Reference Rs869312726(G;G)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6077681C>T
CLNSRC
CLNACC RCV000209832.1,