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rs869312729

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312729(-;-)
Make rs869312729(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6089068
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312729
ebirs869312729
HLIrs869312729
Exacrs869312729
Varsomers869312729
Maprs869312729
PheGenIrs869312729
hapmaprs869312729
1000 genomesrs869312729
hgdprs869312729
ensemblrs869312729
gopubmedrs869312729
geneviewrs869312729
scholarrs869312729
googlers869312729
pharmgkbrs869312729
gwascentralrs869312729
openSNPrs869312729
23andMers869312729
23andMe allrs869312729
SNP Nexus

SNPshotrs869312729
SNPdbers869312729
MSV3drs869312729
GWAS Ctlgrs869312729
Max Magnitude0
ClinVar
Risk rs869312729(;)
Alt rs869312729(;)
Reference rs869312729(A;A)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6069715delT
CLNSRC
CLNACC RCV000209879.1,