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rs756205995

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756205995(A;A)
Make rs756205995(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position65187995
GeneCAPN1
is asnp
is mentioned by
dbSNPrs756205995
ebirs756205995
HLIrs756205995
Exacrs756205995
Varsomers756205995
Maprs756205995
PheGenIrs756205995
hapmaprs756205995
1000 genomesrs756205995
hgdprs756205995
ensemblrs756205995
gopubmedrs756205995
geneviewrs756205995
scholarrs756205995
googlers756205995
pharmgkbrs756205995
gwascentralrs756205995
openSNPrs756205995
23andMers756205995
23andMe allrs756205995
SNP Nexus

SNPshotrs756205995
SNPdbers756205995
MSV3drs756205995
GWAS Ctlgrs756205995
Max Magnitude0
ClinVar
Risk rs756205995(A;A)
Alt rs756205995(A;A)
Reference rs756205995(G;G)
Significance Pathogenic
Disease Spastic paraplegia 76
Variation info
Gene CAPN1
CLNDBN Spastic paraplegia 76, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.64955466G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000211054.2,