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: rs10507055
rs10507055
LOC105369917
1 12 95383542 intron variant T/C snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs12899987
rs12899987
OTUD7A
1 15 31578250 intron variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs2242442
rs2242442
TBX3 ; LOC105370000
3 0.925 0.080 12 114683384 5 prime UTR variant G/A snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs56695130
rs56695130
SRCIN1
1 17 38534459 intron variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs850092
rs850092
DPY19L2P3
1 7 29741168 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs902727464
rs902727464
RGS5
1 1 163221517 intron variant TCAATAAA/- delins 9.3E-05 0.700 1.000 1 2019 2019