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rs869312721

From SNPedia

Orientationminus
Geno Mag Summary
(ATC;ATC) 0 common in clinvar
Make rs869312721(-;-)
Make rs869312721(-;ATC)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6077338
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312721
ebirs869312721
HLIrs869312721
Exacrs869312721
Varsomers869312721
Maprs869312721
PheGenIrs869312721
hapmaprs869312721
1000 genomesrs869312721
hgdprs869312721
ensemblrs869312721
gopubmedrs869312721
geneviewrs869312721
scholarrs869312721
googlers869312721
pharmgkbrs869312721
gwascentralrs869312721
openSNPrs869312721
23andMers869312721
23andMe allrs869312721
SNP Nexus

SNPshotrs869312721
SNPdbers869312721
MSV3drs869312721
GWAS Ctlgrs869312721
Max Magnitude0
ClinVar
Risk rs869312721(;)
Alt rs869312721(;)
Reference rs869312721(ATC;ATC)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6057985_6057987delGAT
CLNSRC
CLNACC RCV000209952.1,