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rs587777175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777175(C;T)
Make rs587777175(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position100728759
GeneTFG
is asnp
is mentioned by
dbSNPrs587777175
dbSNP (classic)rs587777175
ClinGenrs587777175
ebirs587777175
HLIrs587777175
Exacrs587777175
Gnomadrs587777175
Varsomers587777175
LitVarrs587777175
Maprs587777175
PheGenIrs587777175
Biobankrs587777175
1000 genomesrs587777175
hgdprs587777175
ensemblrs587777175
geneviewrs587777175
scholarrs587777175
googlers587777175
pharmgkbrs587777175
gwascentralrs587777175
openSNPrs587777175
23andMers587777175
SNPshotrs587777175
SNPdbers587777175
MSV3drs587777175
GWAS Ctlgrs587777175
Max Magnitude0
ClinVar
Risk rs587777175(T;T)
Alt rs587777175(T;T)
Reference Rs587777175(C;C)
Significance Pathogenic
Disease Spastic paraplegia 57
Variation info
Gene TFG
CLNDBN Spastic paraplegia 57, autosomal recessive
Reversed 0
HGVS NC_000003.11:g.100447603C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000087273.5,