rs587781262, PRPS1

N. diseases: 6
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.
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
6 0.882 0.240 X 107640938 missense variant A/G snv 0.700 1.000 1 2015 2015
DEAFNESS, X-LINKED 1 (disorder)
CUI: C1844677
Disease: DEAFNESS, X-LINKED 1 (disorder)
7 0.882 0.240 X 107640938 missense variant A/G snv 0.700 1.000 1 2015 2015
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.882 0.240 X 107640938 missense variant A/G snv 0.700 1.000 1 2015 2015
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015