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rs2301600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2301600(C;T)
Make rs2301600(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position35295965
GeneMAG
is asnp
is mentioned by
dbSNPrs2301600
dbSNP (classic)rs2301600
ClinGenrs2301600
ebirs2301600
HLIrs2301600
Exacrs2301600
Gnomadrs2301600
Varsomers2301600
LitVarrs2301600
Maprs2301600
PheGenIrs2301600
Biobankrs2301600
1000 genomesrs2301600
hgdprs2301600
ensemblrs2301600
geneviewrs2301600
scholarrs2301600
googlers2301600
pharmgkbrs2301600
gwascentralrs2301600
openSNPrs2301600
23andMers2301600
SNPshotrs2301600
SNPdbers2301600
MSV3drs2301600
GWAS Ctlgrs2301600
Max Magnitude0
? (C;C) (C;T) (T;T) 28


ClinVar
Risk rs2301600(G;G) rs2301600(T;T)
Alt rs2301600(G;G) rs2301600(T;T)
Reference Rs2301600(C;C)
Significance Pathogenic
Disease Spastic paraplegia 75
Variation info
Gene MAG
CLNDBN Spastic paraplegia 75, autosomal recessive
Reversed 0
HGVS NC_000019.9:g.35786868C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000202409.1,