SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1135402761
rs1135402761
0.827 0.320 12 79448958 missense variant T/C snv
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME
0.800 1.000 2 2015 2018
dbSNP: rs1565922388
rs1565922388
0.925 12 79353599 missense variant T/A snv
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME
0.700 1.000 2 2015 2018
dbSNP: rs144900171
rs144900171
0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME
0.700 1.000 1 2018 2018
dbSNP: rs1565922395
rs1565922395
0.925 12 79353602 missense variant A/G snv
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME
0.700 1.000 1 2018 2018
dbSNP: rs1565962725
rs1565962725
0.925 12 79448953 missense variant C/A snv
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
BAKER-GORDON SYNDROME
0.700 1.000 1 2018 2018