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: rs7940310
rs7940310
PAFAH1B2
3 11 117153765 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs10047462
rs10047462
SIK3 ; APOA1-AS
3 11 116851325 intron variant G/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1242229
rs1242229
SIDT2
2 11 117191654 non coding transcript exon variant T/A;C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs1408272
rs1408272
SLC17A3
4 6 25842723 intron variant T/G snv 4.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs236918
rs236918
PCSK7
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs7112513
rs7112513
PAFAH1B2
1 11 117166645 intron variant A/G snv 0.85 0.700 1.000 1 2008 2008
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.700 1.000 1 2011 2011