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: rs142529006
rs142529006
ZKSCAN1
4 7 100022093 intron variant T/A snv 6.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs603424
rs603424
PKD2L1
13 1.000 0.080 10 100315722 intron variant G/A snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs7384878
rs7384878
PMS2P1 ; STAG3L5P ; STAG3L5P-PVRIG2P-PILRB
2 7 100334426 intron variant C/T snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs72996119
rs72996119 		2 11 100587081 intergenic variant A/G snv 7.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs41295942
rs41295942
TFR2
2 7 100621008 missense variant C/T snv 2.0E-02 2.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs717662
rs717662 		2 11 100623264 intergenic variant C/T snv 8.5E-02 0.700 1.000 2 2016 2017
dbSNP: rs139178017
rs139178017
TFR2
2 7 100628224 splice region variant C/T snv 3.1E-03 2.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs9801017
rs9801017
TFR2
3 7 100638579 intron variant G/A snv 0.65 0.700 1.000 2 2016 2017
dbSNP: rs531909210
rs531909210
TFR2
3 7 100641799 intron variant G/A snv 2.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs2075672
rs2075672
TFR2 ; ACTL6B
8 7 100642673 intron variant A/G snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs73003836
rs73003836
ARHGAP42
2 11 100713940 intron variant C/T snv 7.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs7797559
rs7797559 		2 7 101065852 intergenic variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4615960
rs4615960
BTRC
2 10 101438198 intron variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs67806247
rs67806247
TMEM259
2 19 1014539 intron variant TGATGGGGCG/-;TGATGGGGCGTGATGGGGCG delins 0.700 1.000 2 2016 2017
dbSNP: rs636089
rs636089
NCALD
2 8 102065562 intron variant T/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs57236717
rs57236717
WDR20
2 14 102148541 intron variant AAA/-;A;AA;AAAA;AAAAA;AAAAAA;AAAAAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs12883091
rs12883091
WDR20
2 14 102202685 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs3087686
rs3087686
MOK
2 14 102229226 3 prime UTR variant A/G snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs7692921
rs7692921
SLC39A8
2 4 102326283 intron variant C/A snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs368447685
rs368447685
NKD2
2 5 1025534 intron variant T/C snv 1.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs4772494
rs4772494
TPP2
2 13 102603946 intron variant A/G snv 0.65 0.700 1.000 1 2019 2019
dbSNP: rs1190335
rs1190335
RCOR1
2 14 102645021 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12764899
rs12764899
AS3MT ; BORCS7-ASMT
4 1.000 0.040 10 102875346 intron variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs559546873
rs559546873
NT5C2
2 10 103186913 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 0.33 0.700 1.000 1 2016 2016
dbSNP: rs17616464
rs17616464 		2 14 103373661 downstream gene variant C/G snv 6.5E-02 0.700 1.000 1 2019 2019