rs587776690, ATR

N. diseases: 4
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.
Seckel syndrome 1
CUI: C4551474
Disease: Seckel syndrome 1
8 0.882 0.280 3 142556439 synonymous variant T/C snv 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.882 0.280 3 142556439 synonymous variant T/C snv 0.010 1.000 1 2017 2017
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.882 0.280 3 142556439 synonymous variant T/C snv 0.010 1.000 1 2017 2017
Seckel syndrome
CUI: C0265202
Disease: Seckel syndrome
3 0.882 0.280 3 142556439 synonymous variant T/C snv 0.010 1.000 1 2017 2017