rs1064795559, MORC2

N. diseases: 29
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.
Abnormal hypothalamus physiology
CUI: C4022968
Disease: Abnormal hypothalamus physiology
1 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Broad hallux
CUI: C1867131
Disease: Broad hallux
14 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Cutis marmorata
CUI: C0263401
Disease: Cutis marmorata
9 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Easy fatigability
CUI: C1837098
Disease: Easy fatigability
5 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Exercise-induced muscle fatigue
CUI: C1855580
Disease: Exercise-induced muscle fatigue
3 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Exophoria
CUI: C0152217
Disease: Exophoria
1 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Focal T2 hyperintense basal ganglia lesion
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
3 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Focal T2 hyperintense brainstem lesion
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
2 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Focal T2 hyperintense thalamic lesion
CUI: C4022774
Disease: Focal T2 hyperintense thalamic lesion
1 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Glabellar hemangioma
CUI: C1854408
Disease: Glabellar hemangioma
4 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Hyperacusis
CUI: C0034880
Disease: Hyperacusis
9 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Hyperextensibility at elbow
CUI: C4023808
Disease: Hyperextensibility at elbow
7 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Hyperextensibility of the knee
CUI: C4023802
Disease: Hyperextensibility of the knee
3 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Hyperplasia of midface
CUI: C0240309
Disease: Hyperplasia of midface
2 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Intolerant of heat
CUI: C0231274
Disease: Intolerant of heat
7 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Large nose
CUI: C0426415
Disease: Large nose
7 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Nevus flammeus nuchae
CUI: C4024829
Disease: Nevus flammeus nuchae
3 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Oral aversion
CUI: C3665983
Disease: Oral aversion
4 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
Overriding toe
CUI: C0920299
Disease: Overriding toe
13 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0