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rs119463995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119463995(A;A)
Make rs119463995(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position105601319
GeneFKTN
is asnp
is mentioned by
dbSNPrs119463995
ebirs119463995
HLIrs119463995
Exacrs119463995
Varsomers119463995
Maprs119463995
PheGenIrs119463995
hapmaprs119463995
1000 genomesrs119463995
hgdprs119463995
ensemblrs119463995
gopubmedrs119463995
geneviewrs119463995
scholarrs119463995
googlers119463995
pharmgkbrs119463995
gwascentralrs119463995
openSNPrs119463995
23andMers119463995
23andMe allrs119463995
SNP Nexus

SNPshotrs119463995
SNPdbers119463995
MSV3drs119463995
GWAS Ctlgrs119463995
Max Magnitude0
OMIM607440
Desc
Variant0014
Relatedalso
ClinVar
Risk rs119463995(A;A)
Alt rs119463995(A;A)
Reference rs119463995(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene FKTN
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C4
Reversed 0
HGVS NC_000009.11:g.108363600G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003368.3,