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: rs121918306
rs121918306
SPTBN2
1 1.000 0.080 11 66713645 missense variant A/G snv 0.840 1.000 7 2006 2017
dbSNP: rs397514749
rs397514749
SPTBN2
2 1.000 0.080 11 66707731 missense variant G/A snv 0.800 1.000 3 2006 2013
dbSNP: rs1554984881
rs1554984881
SPTBN2
1 1.000 0.080 11 66705399 missense variant A/G snv 0.700 0
dbSNP: rs1554986337
rs1554986337
SPTBN2
1 1.000 0.080 11 66708181 missense variant C/T snv 0.700 0
dbSNP: rs875989881
rs875989881
SPTBN2
1 1.000 0.080 11 66715235 missense variant A/G snv 0.700 0
dbSNP: rs1292187704
rs1292187704
ANGPTL1 ; RALGPS2
1 1.000 0.080 1 178865019 missense variant G/A snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs755635155
rs755635155
PITX2
1 1.000 0.080 4 110618321 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010