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: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2012 2012
dbSNP: rs2680830
rs2680830
VSNL1
2 1.000 0.080 2 17596817 intron variant A/G;T snv 0.94 0.700 1.000 1 2017 2017
dbSNP: rs217181
rs217181
TXNL4B
6 16 72080103 intron variant C/T snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs12051548
rs12051548
TM4SF5
1 17 4779740 intron variant G/C snv 7.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs77757620
rs77757620
STARD9
2 1.000 0.080 15 42661399 intron variant C/T snv 3.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs12040333
rs12040333
ST3GAL3
2 1.000 0.080 1 43848369 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs2657880
rs2657880
SPRYD4
4 12 56469986 3 prime UTR variant G/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.700 1.000 1 2012 2012
dbSNP: rs751093906
rs751093906
SLC20A2
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1303
rs1303
SERPINA1
4 0.925 0.040 14 94378506 missense variant T/G snv 0.28 0.22 0.700 1.000 1 2012 2012
dbSNP: rs4272321
rs4272321
PTPRN2
2 1.000 0.080 7 158159143 intron variant A/G snv 4.6E-04 0.700 1.000 1 2017 2017
dbSNP: rs17404667
rs17404667
PRICKLE2
1 3 64288876 intron variant C/G snv 6.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs741013
rs741013
PRICKLE2
1 3 64306961 intron variant A/T snv 6.0E-02 0.800 1.000 1 2013 2013
dbSNP: rs1440581
rs1440581
PPM1K-DT
4 1.000 0.080 4 88305270 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs9349379
rs9349379
PHACTR1
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.800 1.000 2 2011 2013
dbSNP: rs10807323
rs10807323
PHACTR1
1 6 12794799 intron variant G/A snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs2026458
rs2026458
PHACTR1
6 0.882 0.080 6 12825642 intron variant C/T snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs4711863
rs4711863
PHACTR1
1 6 12915185 intron variant G/C snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs59490629
rs59490629
PDSS2
2 1.000 0.080 6 107256268 intron variant G/A snv 8.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs17214144
rs17214144
OSBPL3
2 1.000 0.080 7 24846128 intron variant T/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs7442201
rs7442201
NSG1
2 1.000 0.080 4 4360022 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs2306786
rs2306786
MYO1E
1 15 59195731 intron variant C/G snv 8.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs59811240
rs59811240
MTSS1
2 1.000 0.080 8 124709787 intron variant C/A snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs75629841
rs75629841
MTSS1
2 1.000 0.080 8 124714135 intron variant G/A;T snv 0.700 1.000 1 2017 2017