Gene: SPTA1 ×
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: rs2022003
rs2022003
SPTA1
5 1 158617176 intron variant A/T snv 0.28 0.800 1.000 2 2012 2016
dbSNP: rs857721
rs857721
SPTA1
2 1 158642758 intron variant T/A;C snv 0.800 1.000 2 2009 2012
dbSNP: rs10443899
rs10443899
SPTA1
1 1 158646824 intron variant T/A snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs10443907
rs10443907
SPTA1
1 1 158644877 intron variant C/T snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs11811522
rs11811522
SPTA1
2 1 158634353 intron variant G/A snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs12076831
rs12076831
SPTA1
1 1 158646608 intron variant C/T snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs12088990
rs12088990
SPTA1
1 1 158626734 intron variant A/G snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs12128171
rs12128171
SPTA1 ; OR10Z1
1 1 158610687 3 prime UTR variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12138682
rs12138682
SPTA1
1 1 158630404 intron variant T/C snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs17635940
rs17635940
SPTA1
1 1 158646198 intron variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2157691
rs2157691
SPTA1
3 1 158613048 intron variant G/C snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs2246434
rs2246434
SPTA1
3 1 158648665 intron variant G/A snv 0.26 0.22 0.700 1.000 1 2012 2012
dbSNP: rs2479868
rs2479868
SPTA1 ; OR10Z1
2 1 158610279 3 prime UTR variant C/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs2482963
rs2482963
SPTA1
1 1 158626648 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2518491
rs2518491
SPTA1
2 1 158615440 intron variant C/T snv 0.28 0.22 0.700 1.000 1 2012 2012
dbSNP: rs2518493
rs2518493
SPTA1
1 1 158661381 synonymous variant A/C;G snv 0.27; 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs2779116
rs2779116
SPTA1
2 1 158615625 intron variant C/A;T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs3737515
rs3737515
SPTA1
1 1 158627717 missense variant G/A;C snv 8.1E-06; 0.25 0.700 1.000 1 2012 2012
dbSNP: rs3738791
rs3738791
SPTA1
1 1 158636659 synonymous variant G/T snv 0.29 0.35 0.700 1.000 1 2012 2012
dbSNP: rs4511106
rs4511106
SPTA1
1 1 158628709 intron variant G/A snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs6682458
rs6682458
SPTA1
1 1 158633223 intron variant C/G snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs6702040
rs6702040
SPTA1
1 1 158644408 intron variant C/G;T snv 8.0E-06; 0.29 0.700 1.000 1 2012 2012
dbSNP: rs7553252
rs7553252
SPTA1
1 1 158619126 intron variant C/G;T snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs857691
rs857691
SPTA1
1 1 158656588 synonymous variant C/T snv 0.31 0.40 0.700 1.000 1 2012 2012
dbSNP: rs857725
rs857725
SPTA1
3 1 158638145 stop gained T/A;G snv 4.0E-06; 0.28 0.700 1.000 1 2012 2012