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: rs193929390
rs193929390
CATSPER1
1 1.000 0.040 11 66025840 frameshift variant -/A delins 6.8E-05 0.700 0
dbSNP: rs193929391
rs193929391
CATSPER1
1 1.000 0.040 11 66025431 frameshift variant -/CCATG delins 8.0E-06 0.700 0
dbSNP: rs748854592
rs748854592
CKMT1B ; STRC
3 0.882 0.160 15 43604153 splice acceptor variant C/T snv 5.1E-05 6.3E-05 0.700 0