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: rs870142
rs870142
STX18-AS1
7 0.851 0.120 4 4646320 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs9909104
rs9909104
SHMT1
4 0.882 0.200 17 18344707 intron variant T/C snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs374016704
rs374016704
GDF1 ; UPF1 ; CERS1
3 0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04 0.700 0
dbSNP: rs876657934
rs876657934
NKX2-5
1 5 173233212 splice region variant G/C snv 0.700 0
dbSNP: rs727504412
rs727504412
JAG1
3 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 4 1997 2005
dbSNP: rs397516908
rs397516908
NKX2-5
1 5 173233142 frameshift variant CCG/AT delins 0.700 1.000 2 1998 1999
dbSNP: rs879253817
rs879253817
CIT
4 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0
dbSNP: rs3832879
rs3832879
FGF23
2 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 0.010 1.000 1 2013 2013