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rs211694394

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs211694394(A;T)
Make rs211694394(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position17286379
GeneVPS37A
is asnp
is mentioned by
dbSNPrs211694394
ebirs211694394
HLIrs211694394
Exacrs211694394
Varsomers211694394
Maprs211694394
PheGenIrs211694394
hapmaprs211694394
1000 genomesrs211694394
hgdprs211694394
ensemblrs211694394
gopubmedrs211694394
geneviewrs211694394
scholarrs211694394
googlers211694394
pharmgkbrs211694394
gwascentralrs211694394
openSNPrs211694394
23andMers211694394
23andMe allrs211694394
SNP Nexus

SNPshotrs211694394
SNPdbers211694394
MSV3drs211694394
GWAS Ctlgrs211694394
Max Magnitude0
ClinVar
Risk rs211694394(G,T;G,T)
Alt rs211694394(G,T;G,T)
Reference rs211694394(A;A)
Significance Pathogenic
Disease Spastic paraplegia 53
Variation info
Gene VPS37A
CLNDBN Spastic paraplegia 53, autosomal recessive
Reversed 0
HGVS NC_000008.10:g.17143888A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032956.3,