rs775883520, TMEM67

N. diseases: 6
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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 0.710 1.000 2 2015 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 10 1999 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 10 1999 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 10 1999 2016
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
48 0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 4 2010 2017
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 2 2015 2017