rs267606900, MTPAP

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 ATAXIA 4, AUTOSOMAL RECESSIVE
1 1.000 10 30313926 missense variant T/C snv 1.4E-05 0.800 1.000 1 2010 2010
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 1.000 10 30313926 missense variant T/C snv 1.4E-05 0.010 1.000 1 2015 2015