Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs730882221
rs730882221
TCTN1
2 0.925 12 110626360 splice acceptor variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs367543065
rs367543065
TCTN1
1 1.000 12 110619834 splice acceptor variant A/G snv 0.700 0
dbSNP: rs751962801
rs751962801
TCTN1 ; HVCN1
1 1.000 12 110640437 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs797046039
rs797046039
TCTN1 ; HVCN1
1 1.000 12 110636501 splice donor variant G/- delins 0.700 0