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rs104894496

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894496(C;G)
Make rs104894496(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position22786790
GeneNIPA1
is asnp
is mentioned by
dbSNPrs104894496
dbSNP (classic)rs104894496
ClinGenrs104894496
ebirs104894496
HLIrs104894496
Exacrs104894496
Gnomadrs104894496
Varsomers104894496
LitVarrs104894496
Maprs104894496
PheGenIrs104894496
Biobankrs104894496
1000 genomesrs104894496
hgdprs104894496
ensemblrs104894496
geneviewrs104894496
scholarrs104894496
googlers104894496
pharmgkbrs104894496
gwascentralrs104894496
openSNPrs104894496
23andMers104894496
SNPshotrs104894496
SNPdbers104894496
MSV3drs104894496
GWAS Ctlgrs104894496
Max Magnitude0
OMIM608145
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894496(G;G)
Alt rs104894496(G;G)
Reference Rs104894496(C;C)
Significance Pathogenic
Disease Spastic paraplegia 6
Variation info
Gene NIPA1
CLNDBN Spastic paraplegia 6
Reversed 1
HGVS NC_000015.9:g.23086278G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002628.2,