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: rs972221242
rs972221242
TMEM237
1.000 2 201632186 stop gained G/A snv 4.0E-06
CUI: C3280766
Disease: JOUBERT SYNDROME 14
JOUBERT SYNDROME 14 		0.700 0
dbSNP: rs972221242
rs972221242
TMEM237
1.000 2 201632186 stop gained G/A snv 4.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0