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: rs730882180
rs730882180
FRAS1
2 0.925 0.200 4 78472331 splice donor variant G/T snv 4.2E-06 0.700 0
dbSNP: rs755750961
rs755750961
FRAS1
1 1.000 0.200 4 78364051 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs114837786
rs114837786
FREM2
4 0.851 0.200 13 38850157 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs121434356
rs121434356
FREM2
2 0.925 0.200 13 38784703 missense variant G/A snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs758310028
rs758310028
FRAS1
1 1.000 0.200 4 78445773 missense variant G/A snv 4.4E-06 0.010 1.000 1 2018 2018