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: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0086649
Disease: MPS III C
MPS III C 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0085633
Disease: Mood swings
Mood swings 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0085632
Disease: Apathy
Apathy 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C4023491
Disease: Interictal epileptiform activity
Interictal epileptiform activity 		0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv
CUI: C3887611
Disease: Restlessness
Restlessness 		0.700 0