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rs370819786

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370819786(G;T)
Make rs370819786(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position105607952
GeneFKTN
is asnp
is mentioned by
dbSNPrs370819786
dbSNP (classic)rs370819786
ClinGenrs370819786
ebirs370819786
HLIrs370819786
Exacrs370819786
Gnomadrs370819786
Varsomers370819786
LitVarrs370819786
Maprs370819786
PheGenIrs370819786
Biobankrs370819786
1000 genomesrs370819786
hgdprs370819786
ensemblrs370819786
geneviewrs370819786
scholarrs370819786
googlers370819786
pharmgkbrs370819786
gwascentralrs370819786
openSNPrs370819786
23andMers370819786
SNPshotrs370819786
SNPdbers370819786
MSV3drs370819786
GWAS Ctlgrs370819786
Max Magnitude0
ClinVar
Risk rs370819786(A;A) rs370819786(T;T)
Alt rs370819786(A;A) rs370819786(T;T)
Reference Rs370819786(G;G)
Significance Probable-Pathogenic
Disease Fukuyama congenital muscular dystrophy
Variation info
Gene FKTN
CLNDBN Fukuyama congenital muscular dystrophy
Reversed 0
HGVS NC_000009.11:g.108370233G>A
CLNSRC
CLNACC RCV000411471.1,