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rs869312725

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312725(A;A)
Make rs869312725(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6097523
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312725
ebirs869312725
HLIrs869312725
Exacrs869312725
Varsomers869312725
Maprs869312725
PheGenIrs869312725
hapmaprs869312725
1000 genomesrs869312725
hgdprs869312725
ensemblrs869312725
gopubmedrs869312725
geneviewrs869312725
scholarrs869312725
googlers869312725
pharmgkbrs869312725
gwascentralrs869312725
openSNPrs869312725
23andMers869312725
23andMe allrs869312725
SNP Nexus

SNPshotrs869312725
SNPdbers869312725
MSV3drs869312725
GWAS Ctlgrs869312725
Max Magnitude0
ClinVar
Risk rs869312725(A;A)
Alt rs869312725(A;A)
Reference rs869312725(G;G)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6078170C>T
CLNSRC
CLNACC RCV000209916.1,