Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057521085
rs1057521085
1.000 0.080 1 21561142 missense variant A/G snv 7.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs1159854007
rs1159854007
1.000 0.080 1 21563194 missense variant G/A snv 7.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs1196976671
rs1196976671
1.000 0.080 1 21577475 missense variant G/A snv 7.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs1376937780
rs1376937780
1.000 0.080 1 21563255 missense variant C/T snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs138690664
rs138690664
0.851 0.120 1 21577421 missense variant C/G;T snv 1.6E-05 3.5E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs1413274209
rs1413274209
0.882 0.080 1 21577544 missense variant G/A snv 8.3E-06 2.1E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.800 0
dbSNP: rs1470389268
rs1470389268
1.000 0.080 1 21560716 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs199665722
rs199665722
0.925 0.080 1 21568123 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs199669988
rs199669988
0.882 0.080 1 21564097 missense variant G/A snv 1.3E-04 3.5E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs766076920
rs766076920
0.882 0.080 1 21568122 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs771540767
rs771540767
0.882 0.080 1 21575879 missense variant G/A snv 4.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs780583917
rs780583917
1.000 0.080 1 21563213 missense variant C/A snv 5.2E-05 6.3E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs954135116
rs954135116
1.000 0.080 1 21563170 missense variant G/A snv 4.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs966212736
rs966212736
1.000 0.080 1 21577427 missense variant G/A snv 7.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 0
dbSNP: rs121918000
rs121918000
0.925 0.080 1 21564103 missense variant G/A snv 1.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 1.000 20 1992 2013
dbSNP: rs121918001
rs121918001
0.882 0.080 1 21561126 missense variant C/A;T snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 1.000 20 1992 2013
dbSNP: rs121918002
rs121918002
0.851 0.080 1 21573683 missense variant A/C snv 3.6E-05 7.0E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.800 1.000 20 1992 2013
dbSNP: rs121918003
rs121918003
0.925 0.080 1 21561127 missense variant G/A;C snv 4.0E-06; 1.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 1.000 20 1992 2013
dbSNP: rs121918004
rs121918004
0.925 0.080 1 21564188 missense variant A/C snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 1.000 20 1992 2013
dbSNP: rs121918005
rs121918005
0.925 0.080 1 21560662 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 1.000 20 1992 2013
dbSNP: rs121918006
rs121918006
0.925 0.080 1 21576638 missense variant T/C snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.700 1.000 20 1992 2013
dbSNP: rs121918007
rs121918007
0.851 0.080 1 21564139 missense variant G/A;C snv 2.4E-03; 4.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.810 1.000 20 1992 2013
dbSNP: rs121918008
rs121918008
0.851 0.080 1 21575868 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.800 1.000 20 1992 2013
dbSNP: rs121918009
rs121918009
0.851 0.080 1 21575736 missense variant G/A snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.800 1.000 20 1992 2013
dbSNP: rs121918010
rs121918010
0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder)
0.800 1.000 20 1992 2013