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rs104894490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894490(C;C)
Make rs104894490(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position22812252
GeneNIPA1
is asnp
is mentioned by
dbSNPrs104894490
ebirs104894490
HLIrs104894490
Exacrs104894490
Varsomers104894490
Maprs104894490
PheGenIrs104894490
hapmaprs104894490
1000 genomesrs104894490
hgdprs104894490
ensemblrs104894490
gopubmedrs104894490
geneviewrs104894490
scholarrs104894490
googlers104894490
pharmgkbrs104894490
gwascentralrs104894490
openSNPrs104894490
23andMers104894490
23andMe allrs104894490
SNP Nexus

SNPshotrs104894490
SNPdbers104894490
MSV3drs104894490
GWAS Ctlgrs104894490
Max Magnitude0
OMIM608145
Desc
Variant0002
Relatedalso
OMIM608145
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894490(A,C;A,C)
Alt rs104894490(A,C;A,C)
Reference rs104894490(G;G)
Significance Pathogenic
Disease Spastic paraplegia 6
Variation info
Gene NIPA1
CLNDBN Spastic paraplegia 6
Reversed 1
HGVS NC_000015.9:g.23060816C>G; NC_000015.9:g.23060816C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002629.2, RCV000002631.3,