Gene: SLC1A1 ×
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: rs301430
rs301430
SLC1A1 ; SPATA6L
7 0.827 0.080 9 4576680 synonymous variant T/C snv 0.36 0.38 0.060 1.000 6 2007 2019
dbSNP: rs301434
rs301434
SLC1A1 ; SPATA6L
2 0.925 0.040 9 4582082 intron variant C/G;T snv 0.040 1.000 4 2006 2019
dbSNP: rs2228622
rs2228622
SLC1A1 ; SPATA6L
1 1.000 0.040 9 4564432 synonymous variant G/A snv 0.39 0.35 0.030 1.000 3 2007 2019
dbSNP: rs3087879
rs3087879
SLC1A1 ; SPATA6L
2 0.925 0.080 9 4586808 3 prime UTR variant G/C snv 0.28 0.020 1.000 2 2013 2018
dbSNP: rs3780412
rs3780412
SLC1A1 ; SPATA6L
1 1.000 0.040 9 4572480 intron variant T/C;G snv 0.020 1.000 2 2007 2019
dbSNP: rs12682807
rs12682807
SLC1A1 ; SPATA6L
1 1.000 0.040 9 4574022 splice region variant A/C snv 0.11 8.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs301435
rs301435
SLC1A1 ; SPATA6L
1 1.000 0.040 9 4582843 intron variant T/C snv 0.54 0.010 1.000 1 2006 2006
dbSNP: rs301979
rs301979
SLC1A1 ; SPATA6L
2 0.925 0.040 9 4576851 intron variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs3780413
rs3780413
SLC1A1 ; SPATA6L
1 1.000 0.040 9 4567353 intron variant C/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs7858819
rs7858819
SLC1A1 ; SPATA6L
2 1.000 0.040 9 4559892 non coding transcript exon variant C/T snv 0.25 0.010 1.000 1 2009 2009