rs147394623, DHDDS

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.
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04 0.740 1.000 7 2011 2018
RETINITIS PIGMENTOSA 59
CUI: C3151227
Disease: RETINITIS PIGMENTOSA 59
3 0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04 0.700 1.000 7 2011 2017
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES
CUI: C4693376
Disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES
3 0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04 0.010 1.000 1 2017 2017