rs1554555063, TMEM67

N. diseases: 7
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.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
48 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0