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: 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
dbSNP: rs1385741705
rs1385741705 		1.000 0.040 11 68043015 stop gained C/G;T snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1439348400
rs1439348400 		1.000 0.040 11 68047973 splice donor variant G/T snv 4.0E-06
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1458295257
rs1458295257 		1.000 0.040 11 68043908 splice donor variant G/T snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554995009
rs1554995009 		1.000 0.040 11 68042651 stop gained C/T snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554995330
rs1554995330 		1.000 0.040 11 68042994 stop gained C/T snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554995350
rs1554995350 		1.000 0.040 11 68043007 frameshift variant GG/T delins
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554995381
rs1554995381 		1.000 0.040 11 68043032 splice donor variant G/A snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554995522
rs1554995522 		1.000 0.040 11 68043418 frameshift variant TCTGGAGGGCCTGC/- delins
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554995582
rs1554995582 		1.000 0.040 11 68043498 splice donor variant G/T snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554995706
rs1554995706 		1.000 0.040 11 68043627 frameshift variant -/GAAGATCCGCAAGATCA delins
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554996130
rs1554996130 		1.000 0.040 11 68044245 frameshift variant C/- delins
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554997884
rs1554997884 		1.000 0.040 11 68047646 splice acceptor variant G/A snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554997997
rs1554997997 		1.000 0.040 11 68047724 frameshift variant -/A delins
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554998061
rs1554998061 		1.000 0.040 11 68047774 frameshift variant -/GCCG delins
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554999205
rs1554999205 		1.000 0.040 11 68049295 splice donor variant G/C snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554999516
rs1554999516 		1.000 0.040 11 68049662 frameshift variant -/AG delins
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1555000376
rs1555000376 		1.000 0.040 11 68050739 splice acceptor variant A/G snv
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs369264588
rs369264588 		1.000 0.040 11 68047967 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs745971874
rs745971874 		1.000 0.040 11 68049081 splice region variant G/A snv 8.0E-06
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs758977199
rs758977199 		1.000 0.040 11 68048877 splice acceptor variant A/C;T snv 1.6E-05
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs886048594
rs886048594 		1.000 0.040 11 68042748 frameshift variant GGAGCGC/- delins
CUI: C1850127
Disease: Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 1 		Musculoskeletal Diseases 0.700 0
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: 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