rs386834180, 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.
Meckel syndrome type 3
CUI: C1846357
Disease: Meckel syndrome type 3
39 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.800 1.000 5 2006 2010
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
38 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.800 1.000 3 2009 2017
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.700 1.000 6 2007 2016
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.700 1.000 6 2007 2016
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
48 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.700 1.000 1 2015 2015
Bardet-Biedl syndrome 1 (disorder)
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
65 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.700 0
BARDET-BIEDL SYNDROME 14 (disorder)
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
17 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.700 0
NEPHRONOPHTHISIS 11
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
6 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.700 0