rs765468645, TMEM67

N. diseases: 5
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.
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 1 2016 2016
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0
Coloboma of iris
CUI: C0240063
Disease: Coloboma of iris
12 0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 0.700 0