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rs119464998

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119464998(A;G)
Make rs119464998(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position105620001
GeneFKTN
is asnp
is mentioned by
dbSNPrs119464998
ebirs119464998
HLIrs119464998
Exacrs119464998
Varsomers119464998
Maprs119464998
PheGenIrs119464998
hapmaprs119464998
1000 genomesrs119464998
hgdprs119464998
ensemblrs119464998
gopubmedrs119464998
geneviewrs119464998
scholarrs119464998
googlers119464998
pharmgkbrs119464998
gwascentralrs119464998
openSNPrs119464998
23andMers119464998
23andMe allrs119464998
SNP Nexus

SNPshotrs119464998
SNPdbers119464998
MSV3drs119464998
GWAS Ctlgrs119464998
Max Magnitude0
OMIM607440
Desc
Variant0017
Relatedalso
ClinVar
Risk rs119464998(G;G)
Alt rs119464998(G;G)
Reference rs119464998(A;A)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene FKTN
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
Reversed 0
HGVS NC_000009.11:g.108382282A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003370.2,