rs1561500885, SMN1;SMN2

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.
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 1.000 0.040 5 70946138 missense variant T/C snv 0.700 1.000 1 2007 2007
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
23 1.000 0.040 5 70946138 missense variant T/C snv 0.700 1.000 1 2007 2007