Have questions? Visit https://www.reddit.com/r/SNPedia

rs869312724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869312724(-;A)
Make rs869312724(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position6110493
GeneFERMT1
is asnp
is mentioned by
dbSNPrs869312724
dbSNP (classic)rs869312724
ClinGenrs869312724
ebirs869312724
HLIrs869312724
Exacrs869312724
Gnomadrs869312724
Varsomers869312724
LitVarrs869312724
Maprs869312724
PheGenIrs869312724
Biobankrs869312724
1000 genomesrs869312724
hgdprs869312724
ensemblrs869312724
geneviewrs869312724
scholarrs869312724
googlers869312724
pharmgkbrs869312724
gwascentralrs869312724
openSNPrs869312724
23andMers869312724
SNPshotrs869312724
SNPdbers869312724
MSV3drs869312724
GWAS Ctlgrs869312724
Max Magnitude0
ClinVar
Risk rs869312724(A;A)
Alt rs869312724(A;A)
Reference Rs869312724(-;-)
Significance Pathogenic
Disease Kindler's syndrome
Variation info
Gene FERMT1
CLNDBN Kindler's syndrome
Reversed 1
HGVS NC_000020.10:g.6091141dupT
CLNSRC
CLNACC RCV000209950.1,