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rs869312718

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312718(C;C)
Make rs869312718(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6089031
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312718
ebirs869312718
HLIrs869312718
Exacrs869312718
Varsomers869312718
Maprs869312718
PheGenIrs869312718
hapmaprs869312718
1000 genomesrs869312718
hgdprs869312718
ensemblrs869312718
gopubmedrs869312718
geneviewrs869312718
scholarrs869312718
googlers869312718
pharmgkbrs869312718
gwascentralrs869312718
openSNPrs869312718
23andMers869312718
23andMe allrs869312718
SNP Nexus

SNPshotrs869312718
SNPdbers869312718
MSV3drs869312718
GWAS Ctlgrs869312718
Max Magnitude0
ClinVar
Risk rs869312718(C;C)
Alt rs869312718(C;C)
Reference rs869312718(T;T)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6069678A>G
CLNSRC
CLNACC RCV000209936.1,