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: rs80338845
rs80338845
6 0.807 0.240 11 112088971 missense variant G/T snv 7.0E-06 0.800 1.000 6 2010 2015
dbSNP: rs864321644
rs864321644
1 1.000 0.040 11 112094873 frameshift variant T/- delins 0.700 0
dbSNP: rs876658477
rs876658477
3 0.882 0.200 11 112094810 missense variant T/G snv 4.0E-06 0.700 0
dbSNP: rs878854589
rs878854589
3 0.882 0.200 11 112086916 frameshift variant -/C delins 0.700 0
dbSNP: rs878854590
rs878854590
3 0.851 0.240 11 112088869 frameshift variant G/- delins 0.700 0
dbSNP: rs878854591
rs878854591
3 0.882 0.200 11 112088938 frameshift variant C/- delins 0.700 0