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rs869312731

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312731(A;A)
Make rs869312731(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6079448
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312731
ebirs869312731
HLIrs869312731
Exacrs869312731
Varsomers869312731
Maprs869312731
PheGenIrs869312731
hapmaprs869312731
1000 genomesrs869312731
hgdprs869312731
ensemblrs869312731
gopubmedrs869312731
geneviewrs869312731
scholarrs869312731
googlers869312731
pharmgkbrs869312731
gwascentralrs869312731
openSNPrs869312731
23andMers869312731
23andMe allrs869312731
SNP Nexus

SNPshotrs869312731
SNPdbers869312731
MSV3drs869312731
GWAS Ctlgrs869312731
Max Magnitude0
ClinVar
Risk rs869312731(A;A)
Alt rs869312731(A;A)
Reference rs869312731(G;G)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6060095C>T
CLNSRC
CLNACC RCV000209891.1,