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: rs1478604
rs1478604
THBS1
9 0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs2228261
rs2228261
THBS1
2 0.925 0.040 15 39588157 synonymous variant C/T snv 0.16 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2228262
rs2228262
THBS1 ; FSIP1
10 0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02 0.010 1.000 1 2014 2014