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rs869312719

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312719(C;C)
Make rs869312719(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6084083
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312719
ebirs869312719
HLIrs869312719
Exacrs869312719
Varsomers869312719
Maprs869312719
PheGenIrs869312719
hapmaprs869312719
1000 genomesrs869312719
hgdprs869312719
ensemblrs869312719
gopubmedrs869312719
geneviewrs869312719
scholarrs869312719
googlers869312719
pharmgkbrs869312719
gwascentralrs869312719
openSNPrs869312719
23andMers869312719
23andMe allrs869312719
SNP Nexus

SNPshotrs869312719
SNPdbers869312719
MSV3drs869312719
GWAS Ctlgrs869312719
Max Magnitude0
ClinVar
Risk rs869312719(C;C)
Alt rs869312719(C;C)
Reference rs869312719(T;T)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6064730A>G
CLNSRC
CLNACC RCV000209848.1,