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: rs10876169
rs10876169
SLC4A8 ; GALNT6
2 12 51389636 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10898438
rs10898438 		2 11 86147211 intergenic variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10991473
rs10991473 		2 9 105024605 downstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11021221
rs11021221 		4 11 95575690 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11023895
rs11023895
SOX6
2 11 16264638 3 prime UTR variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11065589
rs11065589
KDM2B
2 12 121483077 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11097044
rs11097044
G3BP2
2 4 75643297 3 prime UTR variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11117363
rs11117363 		2 16 88086625 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11119784
rs11119784
LINC01693
2 1 211641622 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11258564
rs11258564
FRMD4A
2 10 13730905 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs113084827
rs113084827
DNM2
2 19 10807681 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs113635136
rs113635136
TFRC
3 3 196075973 intron variant AA/-;A;AAA;AAAA delins 0.700 1.000 1 2017 2017
dbSNP: rs11456863
rs11456863 		3 3 12230419 regulatory region variant T/-;TT;TTT;TTTTTTTTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs11556924
rs11556924
ZC3HC1
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.700 1.000 1 2019 2019
dbSNP: rs11557288
rs11557288
NRF1 ; RNA5SP244
2 7 129756334 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11557895
rs11557895
RBM23 ; PRMT5-AS1
2 14 22919022 5 prime UTR variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11606601
rs11606601
EHBP1L1
2 11 65586968 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs11636046
rs11636046
CYFIP1
2 15 22949326 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11647929
rs11647929
CCNF ; MIR6767
2 16 2444474 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11653383
rs11653383
PGS1
2 17 78391022 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1166708
rs1166708
MIGA1
2 1 77865541 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11673000
rs11673000
MARK4 ; EXOC3L2
2 19 45238753 missense variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs117444986
rs117444986
KIAA0355
2 19 34307263 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11759126
rs11759126
SLC22A23
2 6 3369739 intron variant T/A;C snv 0.700 1.000 1 2017 2017