Source: CURATED ×
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: rs1554785242
rs1554785242
ADAMTS13
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs1554791280
rs1554791280
ADAMTS13
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs1555367318
rs1555367318
SPTB
1 1.000 0.040 14 64770879 splice donor variant ACCTGGGCCTC/- delins 0.700 0
dbSNP: rs1564875331
rs1564875331
HBB
4 0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins 0.700 0
dbSNP: rs1565538350
rs1565538350
TPI1
7 0.851 0.200 12 6870074 missense variant G/A snv 0.700 0
dbSNP: rs33924146
rs33924146
HBB
1 1.000 0.040 11 5226765 missense variant A/C;G snv 0.700 0
dbSNP: rs367956522
rs367956522
ATP7B
7 0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05 0.700 0