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rs371334506

From SNPedia

Orientationplus
Stabilizedplus
Make rs371334506(A;C)
Make rs371334506(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position44565954
GeneSPG11
is asnp
is mentioned by
dbSNPrs371334506
dbSNP (classic)rs371334506
ClinGenrs371334506
ebirs371334506
HLIrs371334506
Exacrs371334506
Gnomadrs371334506
Varsomers371334506
LitVarrs371334506
Maprs371334506
PheGenIrs371334506
Biobankrs371334506
1000 genomesrs371334506
hgdprs371334506
ensemblrs371334506
geneviewrs371334506
scholarrs371334506
googlers371334506
pharmgkbrs371334506
gwascentralrs371334506
openSNPrs371334506
23andMers371334506
SNPshotrs371334506
SNPdbers371334506
MSV3drs371334506
GWAS Ctlgrs371334506
Max Magnitude0
ClinVar
Risk rs371334506(C;C) rs371334506(G;G)
Alt rs371334506(C;C) rs371334506(G;G)
Reference Rs371334506(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SPG11
CLNDBN Charcot-Marie-Tooth disease, axonal type 2X
Reversed 0
HGVS NC_000015.9:g.44858152A>G
CLNSRC
CLNACC RCV000224979.1,