rs369227537, SPG7

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
38 1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05 0.700 1.000 3 2012 2016
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05 0.700 1.000 1 2017 2017