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: rs121908817
rs121908817
CIAO1 ; TMEM127
2 0.925 0.040 2 96265232 frameshift variant -/T delins 0.700 0
dbSNP: rs121908821
rs121908821
TMEM127
3 0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06 0.700 0
dbSNP: rs121908826
rs121908826
TMEM127
3 0.882 0.080 2 96254117 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs121908830
rs121908830
TMEM127
3 0.925 0.040 2 96254050 stop gained G/A snv 0.700 0
dbSNP: rs1566600827
rs1566600827
MAX
1 1.000 14 65078021 frameshift variant T/- delins 0.700 0
dbSNP: rs387906649
rs387906649
MAX
3 0.925 0.040 14 65102339 start lost T/C snv 0.700 0
dbSNP: rs387906650
rs387906650
MAX
3 0.925 0.080 14 65077985 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs387906651
rs387906651
MAX ; LOC100506321
3 0.925 0.080 14 65093782 stop gained G/A snv 0.700 0
dbSNP: rs786203385
rs786203385
MAX
2 1.000 14 65077912 splice donor variant C/T snv 0.700 0