Source: CURATED ×
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: rs1016343
rs1016343
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
3 0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 0.700 1.000 4 2008 2013
dbSNP: rs10187424
rs10187424
VAMP8
2 0.925 0.080 2 85567174 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs103294
rs103294 		5 0.827 0.200 19 54293995 downstream gene variant T/C snv 0.82 0.730 1.000 1 2012 2014
dbSNP: rs10503733
rs10503733
LOC107986930
2 0.925 0.080 8 23676505 downstream gene variant G/T snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
13 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 2 2008 2013
dbSNP: rs10505483
rs10505483
PCAT1 ; CASC19
2 0.925 0.080 8 127112950 intron variant C/T snv 0.16 0.700 1.000 2 2008 2012
dbSNP: rs1058205
rs1058205
KLK3
2 0.925 0.080 19 50860142 3 prime UTR variant C/T snv 0.75 0.74 0.720 1.000 1 2008 2018
dbSNP: rs10808556
rs10808556
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
1 0.925 0.080 8 127400902 non coding transcript exon variant C/T snv 0.50 0.700 1.000 1 2008 2008
dbSNP: rs10875943
rs10875943 		2 0.925 0.080 12 49282227 intergenic variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10896449
rs10896449 		3 0.827 0.200 11 69227200 intergenic variant A/G snv 0.53 0.720 1.000 3 2008 2013
dbSNP: rs10896450
rs10896450 		1 1.000 0.080 11 69240647 regulatory region variant A/G snv 0.55 0.700 1.000 1 2008 2008
dbSNP: rs10905371
rs10905371
LOC105376397
1 1.000 0.080 10 8438081 intron variant A/G snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs10905374
rs10905374
LOC105376397
1 1.000 0.080 10 8439523 intron variant G/A snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs10931777
rs10931777
ANKRD44 ; ANKRD44-IT1
1 1.000 0.080 2 197278867 intron variant C/T snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs10934853
rs10934853
EEFSEC
3 0.882 0.160 3 128319530 intron variant C/A snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs10936632
rs10936632 		2 0.925 0.080 3 170412314 intron variant C/A snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs10993994
rs10993994
MSMB
7 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.800 1.000 4 2008 2019
dbSNP: rs11006207
rs11006207 		1 1.000 0.080 10 46057646 regulatory region variant A/G snv 0.45 0.700 1.000 2 2008 2008
dbSNP: rs11135762
rs11135762 		1 1.000 0.080 8 23633678 downstream gene variant G/A snv 0.65 0.700 1.000 1 2012 2012
dbSNP: rs11135910
rs11135910
EBF2
2 0.925 0.080 8 26034626 intron variant C/T snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs111584802
rs111584802
POLK
1 1.000 0.080 5 75587055 missense variant A/G snv 0.700 0
dbSNP: rs11199874
rs11199874 		2 0.925 0.080 10 121273005 intergenic variant G/A snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs11228565
rs11228565 		3 0.882 0.160 11 69211113 regulatory region variant G/A snv 0.16 0.700 1.000 1 2009 2009
dbSNP: rs113425597
rs113425597
PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1 1.000 0.080 5 140807616 synonymous variant G/A;C;T snv 4.0E-06; 4.4E-03; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs114246623
rs114246623
GRM7 ; GRM7-AS2
1 1.000 0.080 3 6893379 intron variant G/A;C snv 4.1E-02 0.700 1.000 1 2014 2014