Source: CURATED

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: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.700 1.000 1 2009 2009
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.700 1.000 1 2009 2009