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: rs386834185
rs386834185
TMEM67
0.882 0.320 8 93787843 splice acceptor variant G/C;T snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs386834185
rs386834185
TMEM67
0.882 0.320 8 93787843 splice acceptor variant G/C;T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2010 2010
dbSNP: rs386834185
rs386834185
TMEM67
0.882 0.320 8 93787843 splice acceptor variant G/C;T snv
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		0.700 0