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: rs121918355
rs121918355
LTBP2
7 0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06 0.700 0
dbSNP: rs121918356
rs121918356
LTBP2 ; LOC101928352
1 1.000 0.040 14 74611614 stop gained G/A;C snv 0.700 0
dbSNP: rs137854895
rs137854895
LTBP2
2 0.925 0.040 14 74500974 frameshift variant G/- del 0.700 0
dbSNP: rs1566634475
rs1566634475
LTBP2
1 1.000 0.040 14 74551333 frameshift variant G/- delins 0.700 0
dbSNP: rs1566635134
rs1566635134
LTBP2
1 1.000 0.040 14 74552330 frameshift variant GGCACCAGCATTCG/- delins 0.700 0
dbSNP: rs1566660365
rs1566660365
LTBP2 ; LOC101928352
1 1.000 0.040 14 74611533 frameshift variant C/- delins 0.700 0