Source: CURATED

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: rs730882221
rs730882221
TCTN1
0.925 12 110626360 splice acceptor variant A/G snv
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.700 1.000 1 2015 2015
dbSNP: rs367543065
rs367543065
TCTN1
1.000 12 110619834 splice acceptor variant A/G snv
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.700 0
dbSNP: rs730882221
rs730882221
TCTN1
0.925 12 110626360 splice acceptor variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs751962801
rs751962801
TCTN1 ; HVCN1
1.000 12 110640437 stop gained C/T snv 8.0E-06
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.700 0
dbSNP: rs797046039
rs797046039
TCTN1 ; HVCN1
1.000 12 110636501 splice donor variant G/- delins
CUI: C3280031
Disease: JOUBERT SYNDROME 13
JOUBERT SYNDROME 13 		0.700 0