Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C0041960
Disease: Ureterocele
Ureterocele 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		0.700 0