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: rs6987853
rs6987853 		1 8 42602307 intergenic variant T/C snv 0.69 0.800 1.000 3 2012 2019
dbSNP: rs10445033
rs10445033
PIEZO1
1 16 88774054 intron variant G/A snv 0.49 0.800 1.000 2 2012 2019
dbSNP: rs11082512
rs11082512 		1 18 46139716 intergenic variant G/A;C snv 0.800 1.000 2 2012 2016
dbSNP: rs12490036
rs12490036 		1 3 196089324 intergenic variant C/T snv 0.42 0.800 1.000 2 2012 2016
dbSNP: rs1901282
rs1901282
SLC20A2
1 8 42537799 non coding transcript exon variant C/G;T snv 0.800 1.000 2 2012 2018
dbSNP: rs2269906
rs2269906
UBTF ; LOC101926967
1 17 44216969 intron variant A/C snv 0.52 0.800 1.000 2 2012 2017
dbSNP: rs2608604
rs2608604
PIEZO1
1 16 88783013 intron variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs4896131
rs4896131
HBS1L
1 6 135070962 intron variant C/A snv 0.56 0.700 1.000 2 2016 2018
dbSNP: rs7551442
rs7551442
ATP2B4
1 1 203685993 intron variant A/C;G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs9901595
rs9901595 		1 17 44228331 downstream gene variant G/A snv 0.45 0.800 1.000 2 2012 2018
dbSNP: rs10015639
rs10015639
AFF1
1 4 86970413 intron variant A/G snv 0.76 0.700 1.000 1 2012 2012
dbSNP: rs10023020
rs10023020
EXOSC9
1 4 121803449 intron variant G/A snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs10023050
rs10023050 		1 4 87143279 downstream gene variant A/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs10023056
rs10023056 		1 4 87143314 downstream gene variant A/G snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs10032244
rs10032244
AFF1
1 4 86996779 intron variant A/G snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs1006081
rs1006081
CCDC162P
1 6 109304347 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1007176
rs1007176 		1 6 164070805 intergenic variant A/G snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs10080880
rs10080880
LOC101928277
1 6 134868890 intergenic variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10084948
rs10084948
BBS7
1 4 121844494 intron variant C/T snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs1009082
rs1009082
SPECC1
1 17 20159646 intron variant G/A snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs10099197
rs10099197
ANK1 ; LOC105379392
1 8 41796940 intron variant C/T snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs1010549
rs1010549 		1 6 164071351 intergenic variant A/C snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs1010902
rs1010902
C4orf36
1 4 86898002 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1010903
rs1010903
C4orf36
1 4 86898040 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10109400
rs10109400 		1 8 42600210 intergenic variant T/C snv 0.66 0.700 1.000 1 2012 2012