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: rs1554189042
rs1554189042
2 1.000 5 177210101 stop gained -/AG ins 0.700 1.000 9 2002 2013
dbSNP: rs1554199501
rs1554199501
1 1.000 5 177257134 frameshift variant AT/- del 0.700 1.000 9 2002 2013