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: rs4580814
rs4580814
SLC12A7 ; LOC105374612
2 5 1113129 upstream gene variant G/T snv 0.47 0.700 1.000 1 2010 2010
dbSNP: rs6684514
rs6684514
SMG5 ; TMEM79
4 0.925 0.120 1 156285665 missense variant G/A snv 0.27 0.24 0.700 1.000 1 2010 2010
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 3 2010 2012
dbSNP: rs17342717
rs17342717
SLC17A1
8 6 25821542 intron variant C/T snv 6.1E-02 0.700 1.000 2 2010 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2010 2012
dbSNP: rs6569992
rs6569992 		4 6 135131014 intergenic variant G/A;C;T snv 0.700 1.000 2 2010 2012
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.800 1.000 2 2010 2012
dbSNP: rs857721
rs857721
SPTA1
2 1 158642758 intron variant T/A;C snv 0.800 1.000 2 2009 2012
dbSNP: rs9373124
rs9373124
HBS1L
3 6 135102071 intron variant T/C snv 0.33 0.800 1.000 2 2009 2012
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.700 1.000 2 2010 2012
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: rs1003688
rs1003688
SCGN
2 6 25658944 intron variant G/A snv 0.14 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: rs1008084
rs1008084
CCDC162P
3 6 109305762 intron variant G/A snv 0.40 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: rs10086987
rs10086987 		2 1.000 0.040 8 47177908 intron variant G/A;C snv 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: rs1010222
rs1010222
CALR
3 19 12937794 upstream gene variant A/G snv 0.70 0.700 1.000 1 2012 2012