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rs34006675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34006675(A;A)
Make rs34006675(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position105604218
GeneFKTN
is asnp
is mentioned by
dbSNPrs34006675
ebirs34006675
HLIrs34006675
Exacrs34006675
Varsomers34006675
Maprs34006675
PheGenIrs34006675
hapmaprs34006675
1000 genomesrs34006675
hgdprs34006675
ensemblrs34006675
gopubmedrs34006675
geneviewrs34006675
scholarrs34006675
googlers34006675
pharmgkbrs34006675
gwascentralrs34006675
openSNPrs34006675
23andMers34006675
23andMe allrs34006675
SNP Nexus

SNPshotrs34006675
SNPdbers34006675
MSV3drs34006675
GWAS Ctlgrs34006675
GMAF0.03535
Max Magnitude0
OMIM607440
Desc
Variant0012
Relatedalso
? (A;G) (G;G)


ClinVar
Risk rs34006675(A;A)
Alt rs34006675(A;A)
Reference rs34006675(G;G)
Significance Non-pathogenic
Disease Fukuyama congenital muscular dystrophy not specified
Variation info
Gene FKTN
CLNDBN Fukuyama congenital muscular dystrophy not specified
Reversed 0
HGVS NC_000009.11:g.108366499G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003366.3, RCV000079434.6,



GET Evidence
FKTN-G125S
aa_change Gly125Ser
aa_change_short G125S
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.036531
summary This variant was found as a compound heterozygote with a 473-bp deletion in a Spanish individual with Walker-Warburg syndrome