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: 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: rs9376090
rs9376090
HBS1L
7 6 135090090 intron variant T/C snv 0.19 0.800 1.000 2 2012 2017
dbSNP: rs9386791
rs9386791
CCDC162P
2 6 109287294 intron variant C/T snv 0.51 0.700 1.000 2 2012 2013
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: 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: rs1008084
rs1008084
CCDC162P
3 6 109305762 intron variant G/A snv 0.40 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: 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: rs1012898
rs1012898
CARMIL1
1 6 25604487 intron variant G/A snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs1013891
rs1013891
MYB ; LOC105378011
1 6 135217501 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1014021
rs1014021
HBS1L
1 6 135013462 intron variant A/G snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs1015150
rs1015150
TFEB
1 6 41691566 intron variant C/T snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs1015670
rs1015670
DOT1L
1 19 2171491 intron variant G/A snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs10158848
rs10158848
RBBP5
1 1 205092064 intron variant C/T snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs10159477
rs10159477
HK1
3 10 69340132 intron variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1016078
rs1016078
TMEM116
1 12 111972273 intron variant C/A snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs10168349
rs10168349
PRKCE
4 2 46133768 intron variant G/C snv 0.36 0.700 1.000 1 2012 2012