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rs869312727

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312727(C;C)
Make rs869312727(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6094937
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312727
ebirs869312727
HLIrs869312727
Exacrs869312727
Varsomers869312727
Maprs869312727
PheGenIrs869312727
hapmaprs869312727
1000 genomesrs869312727
hgdprs869312727
ensemblrs869312727
gopubmedrs869312727
geneviewrs869312727
scholarrs869312727
googlers869312727
pharmgkbrs869312727
gwascentralrs869312727
openSNPrs869312727
23andMers869312727
23andMe allrs869312727
SNP Nexus

SNPshotrs869312727
SNPdbers869312727
MSV3drs869312727
GWAS Ctlgrs869312727
Max Magnitude0
ClinVar
Risk rs869312727(C;C)
Alt rs869312727(C;C)
Reference rs869312727(T;T)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6075584A>G
CLNSRC
CLNACC RCV000209933.1,