rs375168720, DDHD2

N. diseases: 3
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 54, AUTOSOMAL RECESSIVE
CUI: C3539495
Disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE
10 0.882 0.120 8 38253642 missense variant G/C snv 6.0E-05 6.3E-05 0.800 1.000 2 2012 2014
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
36 0.882 0.120 8 38253642 missense variant G/C snv 6.0E-05 6.3E-05 0.700 1.000 4 2012 2014
Obesity
CUI: C0028754
Disease: Obesity
1111 0.882 0.120 8 38253642 missense variant G/C snv 6.0E-05 6.3E-05 0.700 1.000 4 2012 2014