Source: ALL
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: rs137853150
rs137853150 		1.000 0.040 11 68047480 missense variant G/A;C snv 7.2E-05 2.0E-04
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.800 1.000 4 2001 2012
dbSNP: rs137853151
rs137853151 		1.000 0.040 11 68047672 missense variant G/A;T snv 1.2E-05; 2.0E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.800 1.000 3 2001 2004
dbSNP: rs751881962
rs751881962 		1.000 0.040 11 68041392 splice region variant A/C;T snv 4.0E-05; 4.4E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 4 2000 2015
dbSNP: rs139617644
rs139617644 		1.000 0.040 11 68049080 splice acceptor variant G/A snv 1.6E-04 1.9E-04
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 3 2000 2004
dbSNP: rs1475338876
rs1475338876 		1.000 0.040 11 68050255 splice donor variant G/A snv 4.0E-06 3.5E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 3 2001 2014
dbSNP: rs371263807
rs371263807 		1.000 0.040 11 68049783 stop gained C/A;T snv 6.5E-05; 7.1E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 3 2001 2014
dbSNP: rs1392364437
rs1392364437 		1.000 0.040 11 68043499 splice donor variant T/C snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 2 2001 2009
dbSNP: rs1489993984
rs1489993984 		1.000 0.040 11 68047543 stop gained C/T snv 7.0E-06
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 2 2012 2014
dbSNP: rs748659068
rs748659068 		1.000 0.040 11 68050254 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 2 2003 2015
dbSNP: rs774308815
rs774308815 		1.000 0.040 11 68043654 splice donor variant G/C;T snv 4.3E-06
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 2 2001 2015
dbSNP: rs777785526
rs777785526 		1.000 0.040 11 68047564 stop gained C/T snv 4.8E-05 7.0E-06
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 2 2001 2004
dbSNP: rs1057517365
rs1057517365 		1.000 0.040 11 68048883 stop gained G/A snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1159666762
rs1159666762 		1.000 0.040 11 68044961 stop gained G/A;T snv 4.1E-06; 4.1E-06
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1208311085
rs1208311085 		1.000 0.040 11 68042684 frameshift variant CCCC/-;CCC delins 7.2E-06
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1269558164
rs1269558164 		1.000 0.040 11 68045053 frameshift variant G/- delins 3.5E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1300297240
rs1300297240 		1.000 0.040 11 68049665 frameshift variant G/- delins 1.4E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1554995341
rs1554995341 		1.000 0.040 11 68043003 frameshift variant G/-;GG delins
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1554997818
rs1554997818 		1.000 0.040 11 68047574 splice donor variant T/C snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs377303800
rs377303800 		1.000 0.040 11 68041389 splice donor variant G/A snv 2.1E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2001 2001
dbSNP: rs587779413
rs587779413 		0.925 0.080 11 68050224 missense variant C/A snv
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587779413
rs587779413 		0.925 0.080 11 68050224 missense variant C/A snv
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs749361897
rs749361897 		1.000 0.040 11 68044303 stop gained C/A;T snv 4.0E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs917505107
rs917505107 		1.000 0.040 11 68039120 splice donor variant G/A;T snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1338631330
rs1338631330 		1.000 0.040 11 68042792 stop gained C/T snv 1.4E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs137853149
rs137853149 		1.000 0.040 11 68047733 stop gained C/A snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0