rs755604487, PHIP

N. diseases: 10
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.
Congenital torticollis
CUI: C0079352
Disease: Congenital torticollis
6 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
17 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
Genu recurvatum
CUI: C0546964
Disease: Genu recurvatum
4 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
14 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
Ureterocele
CUI: C0041960
Disease: Ureterocele
1 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0