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: rs137853108
rs137853108
TMEM67
0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 5 2007 2015
dbSNP: rs137853108
rs137853108
TMEM67
0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 5 2007 2015
dbSNP: rs137853108
rs137853108
TMEM67
0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-04
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6 		0.700 1.000 1 2015 2015
dbSNP: rs137853108
rs137853108
TMEM67
0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-04
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.700 0