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: rs1569291627
rs1569291627
IQSEC2
1 1.000 0.080 X 53234811 frameshift variant G/- delins 0.700 1.000 5 2010 2017
dbSNP: rs1064795512
rs1064795512
IQSEC2
1 1.000 0.080 X 53234646 frameshift variant -/C delins 0.700 0
dbSNP: rs1569290954
rs1569290954
IQSEC2
1 1.000 0.080 X 53234267 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1556858912
rs1556858912
IQSEC2
1 1.000 0.080 X 53234247 frameshift variant -/GGCCT delins 0.700 0