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: rs387906777
rs387906777
4 0.846 0.107 13 27924382 missense variant A/G snp 0.700 2 2010 2015
dbSNP: rs80356661
rs80356661
2 0.923 0.107 13 27924341 missense variant G/T snp 0.700 2 1993 2003
dbSNP: rs80356662
rs80356662
1 1.000 0.036 13 27924381 missense variant G/A snp 0.700 2 1993 2003
dbSNP: rs193929377
rs193929377
3 0.878 0.107 13 27920326 frameshift variant CC/C in-del 0.700 1 2015 2015