Source: ALL

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: rs1032129
rs1032129
TNFRSF11B
0.851 0.040 8 118939661 intron variant A/C snv 0.37
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs1032129
rs1032129
TNFRSF11B
0.851 0.040 8 118939661 intron variant A/C snv 0.37
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs1032129
rs1032129
TNFRSF11B
0.851 0.040 8 118939661 intron variant A/C snv 0.37
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 1.000 1 2019 2019
dbSNP: rs1032129
rs1032129
TNFRSF11B
0.851 0.040 8 118939661 intron variant A/C snv 0.37
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs1032129
rs1032129
TNFRSF11B
0.851 0.040 8 118939661 intron variant A/C snv 0.37
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs11573824
rs11573824
TNFRSF11B
8 118947686 intron variant A/C;T snv 0.67
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11573829
rs11573829
TNFRSF11B
8 118947384 intron variant T/A;C snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs11573885
rs11573885
TNFRSF11B
8 118936926 intron variant T/C snv 0.45
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1485289
rs1485289
TNFRSF11B
8 118942040 intron variant G/A snv 0.60
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs1905786
rs1905786
TNFRSF11B
1.000 0.040 8 118939453 intron variant T/A;C snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs2073617
rs2073617
TNFRSF11B ; COLEC10
0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs2073618
rs2073618
TNFRSF11B ; COLEC10
0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs3134063
rs3134063
TNFRSF11B
8 118947418 intron variant C/G;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs4319131
rs4319131
TNFRSF11B
8 118935412 intron variant A/G snv 0.33
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs6415470
rs6415470
TNFRSF11B
8 118942872 intron variant G/A snv 0.67
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs6469788
rs6469788
TNFRSF11B
8 118940511 intron variant A/C;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs6469789
rs6469789
TNFRSF11B
8 118948422 intron variant C/A;G;T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs7010267
rs7010267
TNFRSF11B
8 118934417 intron variant C/A snv 0.38
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs7463176
rs7463176
TNFRSF11B
8 118945386 intron variant A/C;G snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs7464496
rs7464496
TNFRSF11B
8 118942603 intron variant T/C snv 0.60
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2009 2009
dbSNP: rs7834745
rs7834745
TNFRSF11B
8 118927620 intron variant A/G snv 0.18
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs7834745
rs7834745
TNFRSF11B
8 118927620 intron variant A/G snv 0.18
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs104894091
rs104894091
TNFRSF11B
1.000 0.040 8 118933071 missense variant C/T snv
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.700 0
dbSNP: rs104894092
rs104894092
TNFRSF11B
1.000 0.040 8 118932982 missense variant A/G snv 2.8E-05
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.700 0
dbSNP: rs200071478
rs200071478
TNFRSF11B
1.000 0.040 8 118933105 missense variant T/C;G snv
CUI: C0268414
Disease: Hyperphosphatasemia with bone disease
Hyperphosphatasemia with bone disease 		0.700 0