rs267607116, TMEM67

N. diseases: 8
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.
NEPHRONOPHTHISIS 11
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
6 0.851 0.160 8 93808861 missense variant G/A;C snv 0.800 1.000 1 2009 2009
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
48 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009