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: rs10179648
rs10179648
THADA
1 1.000 0.120 2 43580926 intron variant C/T snv 0.70 0.700 1.000 1 2011 2011
dbSNP: rs1038822
rs1038822
THADA
1 1.000 0.120 2 43511034 intron variant T/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10505648
rs10505648
LINC02055
1 1.000 0.120 8 136144207 intron variant A/G snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs10514258
rs10514258
VCAN ; VCAN-AS1
1 1.000 0.120 5 83575938 intron variant A/G snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs10739076
rs10739076 		1 1.000 0.120 9 5440589 upstream gene variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10760321
rs10760321 		1 1.000 0.120 9 124101917 TF binding site variant A/G snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs10818854
rs10818854
DENND1A
2 0.851 0.200 9 123684499 intron variant G/A snv 5.7E-02 0.830 1.000 1 2011 2018
dbSNP: rs10865238
rs10865238
FSHR
1 1.000 0.120 2 49041665 intron variant A/G snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs10986105
rs10986105
DENND1A
1 0.925 0.200 9 123787676 intron variant T/G snv 6.9E-02 0.730 1.000 1 2011 2018
dbSNP: rs10993397
rs10993397
AOPEP
1 1.000 0.120 9 94917489 intron variant C/T snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs11031005
rs11031005
LOC105376607
5 1.000 0.120 11 30204809 intron variant T/C snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs11031006
rs11031006
LOC105376607
7 0.882 0.120 11 30204981 intron variant G/A snv 0.11 0.710 1.000 2 2015 2015
dbSNP: rs112137861
rs112137861
SOX5
2 1.000 0.120 12 23857104 intron variant C/A snv 3.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs11225154
rs11225154
YAP1
1 1.000 0.120 11 102172509 intron variant G/A;C snv 0.700 1.000 2 2015 2018
dbSNP: rs1159315
rs1159315
GABRB1
1 1.000 0.120 4 47001059 intron variant T/C snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs11891936
rs11891936
THADA
1 1.000 0.120 2 43305163 intron variant C/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs12468394
rs12468394
THADA
1 1.000 0.120 2 43334022 intron variant C/A snv 0.48 0.700 1.000 2 2011 2012
dbSNP: rs12478601
rs12478601
THADA
1 0.851 0.200 2 43494369 intron variant C/T snv 0.61 0.820 0.750 2 2011 2019
dbSNP: rs1275468
rs1275468
LOC105369844
1 1.000 0.120 12 75541377 intergenic variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs13164856
rs13164856
IRF1-AS1
1 1.000 0.120 5 132477512 intron variant T/C snv 0.32 0.700 1.000 2 2015 2018
dbSNP: rs13405728
rs13405728
LHCGR ; STON1-GTF2A1L
1 0.790 0.200 2 48751020 intron variant A/G snv 0.15 0.900 0.818 2 2011 2019
dbSNP: rs13429458
rs13429458
THADA
1 0.827 0.200 2 43411699 intron variant A/C snv 0.14 0.890 0.800 2 2011 2019
dbSNP: rs1351592
rs1351592
ERBB4
1 1.000 0.120 2 212529988 intron variant C/G snv 0.29 0.710 1.000 1 2015 2017
dbSNP: rs1355471
rs1355471
CCDC91 ; LOC101928705
1 1.000 0.120 12 28568792 intron variant G/A snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs140485756
rs140485756 		2 1.000 0.120 6 69410439 intergenic variant T/C snv 3.2E-02 0.700 1.000 1 2015 2015