Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs757078301
rs757078301
1.000 2 46617290 missense variant G/A snv 7.0E-06
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
0.800 1.000 2 2014 2016
dbSNP: rs13000706
rs13000706
2 46611108 intron variant C/G snv 0.49
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2012 2012
dbSNP: rs17818399
rs17818399
2 46598887 intron variant A/C;G snv
CUI: C0489786
Disease: Height
Height
0.700 1.000 1 2011 2011
dbSNP: rs17818399
rs17818399
2 46598887 intron variant A/C;G snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2011 2011
dbSNP: rs982414
rs982414
2 46618437 intron variant A/G snv 9.7E-03
CUI: C0019029
Disease: Hemoglobin concentration result
Hemoglobin concentration result
0.700 1.000 1 2010 2010
dbSNP: rs982414
rs982414
2 46618437 intron variant A/G snv 9.7E-03
CUI: C1318517
Disease: Finding of hemoglobin concentration
Finding of hemoglobin concentration
0.700 1.000 1 2010 2010
dbSNP: rs982414
rs982414
2 46618437 intron variant A/G snv 9.7E-03
Dipstick assessment of hemoglobin concentration
0.700 1.000 1 2010 2010