Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607119
rs267607119
TMEM67
0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.800 1.000 4 2007 2015
dbSNP: rs267607119
rs267607119
TMEM67
0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.800 1.000 0 2009 2017
dbSNP: rs267607119
rs267607119
TMEM67
0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 2 2009 2011
dbSNP: rs267607119
rs267607119
TMEM67
0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2009 2011
dbSNP: rs267607119
rs267607119
TMEM67
0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.700 0