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: rs1131690802
rs1131690802
SLC29A1
2 1.000 0.160 6 44232906 missense variant A/C snv 0.700 0
dbSNP: rs765925019
rs765925019
ABCB6
1 2 219216027 frameshift variant GATCCGC/-;GATCCGCGATCCGC delins 3.0E-05 0.700 0
dbSNP: rs769526751
rs769526751
KLF1
2 19 12885020 stop gained C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs869312818
rs869312818
CD55
1 1 207322484 missense variant G/A snv 0.700 0
dbSNP: rs879255549
rs879255549
ABCB6
1 2 219213503 splice acceptor variant C/T snv 0.700 0
dbSNP: rs879255550
rs879255550
RHD ; RSRP1
1 1 25290757 missense variant G/A snv 0.700 0