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rs869312722

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312722(A;G)
Make rs869312722(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6122775
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312722
ebirs869312722
HLIrs869312722
Exacrs869312722
Varsomers869312722
Maprs869312722
PheGenIrs869312722
hapmaprs869312722
1000 genomesrs869312722
hgdprs869312722
ensemblrs869312722
gopubmedrs869312722
geneviewrs869312722
scholarrs869312722
googlers869312722
pharmgkbrs869312722
gwascentralrs869312722
openSNPrs869312722
23andMers869312722
23andMe allrs869312722
SNP Nexus

SNPshotrs869312722
SNPdbers869312722
MSV3drs869312722
GWAS Ctlgrs869312722
Max Magnitude0
ClinVar
Risk rs869312722(G;G)
Alt rs869312722(G;G)
Reference rs869312722(A;A)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6103422T>C
CLNSRC
CLNACC RCV000209860.1,