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rs869312720

From SNPedia

Orientationminus
Geno Mag Summary
(GTC;GTC) 0 common in clinvar
Make rs869312720(-;-)
Make rs869312720(-;GTC)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6115895
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312720
ebirs869312720
HLIrs869312720
Exacrs869312720
Varsomers869312720
Maprs869312720
PheGenIrs869312720
hapmaprs869312720
1000 genomesrs869312720
hgdprs869312720
ensemblrs869312720
gopubmedrs869312720
geneviewrs869312720
scholarrs869312720
googlers869312720
pharmgkbrs869312720
gwascentralrs869312720
openSNPrs869312720
23andMers869312720
23andMe allrs869312720
SNP Nexus

SNPshotrs869312720
SNPdbers869312720
MSV3drs869312720
GWAS Ctlgrs869312720
Max Magnitude0
ClinVar
Risk rs869312720(;)
Alt rs869312720(;)
Reference rs869312720(GTC;GTC)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6096542_6096544delGAC
CLNSRC
CLNACC RCV000209900.1,