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rs587777185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777185(A;A)
Make rs587777185(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position7554578
GenePNPLA6
is asnp
is mentioned by
dbSNPrs587777185
dbSNP (classic)rs587777185
ClinGenrs587777185
ebirs587777185
HLIrs587777185
Exacrs587777185
Gnomadrs587777185
Varsomers587777185
LitVarrs587777185
Maprs587777185
PheGenIrs587777185
Biobankrs587777185
1000 genomesrs587777185
hgdprs587777185
ensemblrs587777185
geneviewrs587777185
scholarrs587777185
googlers587777185
pharmgkbrs587777185
gwascentralrs587777185
openSNPrs587777185
23andMers587777185
SNPshotrs587777185
SNPdbers587777185
MSV3drs587777185
GWAS Ctlgrs587777185
Max Magnitude0
ClinVar
Risk rs587777185(A;A)
Alt rs587777185(A;A)
Reference Rs587777185(G;G)
Significance Pathogenic
Disease Spastic paraplegia 39
Variation info
Gene PNPLA6
CLNDBN Spastic paraplegia 39
Reversed 0
HGVS NC_000019.9:g.7619464G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087302.5,