rs75184679, RNASEH2B

N. diseases: 16
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.
Aicardi-Goutieres Syndrome 2
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
19 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.800 1.000 14 2006 2017
AICARDI-GOUTIERES SYNDROME
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
12 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 1.000 11 2006 2016
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
14 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
14 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Lower limb hypertonia
CUI: C1845245
Disease: Lower limb hypertonia
5 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Plagiocephaly
CUI: C0265529
Disease: Plagiocephaly
12 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
10 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Slender finger
CUI: C1857482
Disease: Slender finger
5 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Slender toe
CUI: C4021168
Disease: Slender toe
2 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2017 2017
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2017 2017