COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Lobstein Disease ×
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: rs72656363
rs72656363 		0.925 0.120 7 94404893 splice region variant AGTA/- delins
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs66612022
rs66612022 		0.763 0.240 7 94409768 missense variant G/A;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 4 1995 2012
dbSNP: rs1554396361
rs1554396361 		0.925 0.120 7 94411128 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 6 1993 2011
dbSNP: rs1554396679
rs1554396679 		0.925 0.120 7 94413092 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 6 1993 2009
dbSNP: rs67525025
rs67525025 		0.882 0.120 7 94408798 missense variant G/A;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 6 1993 2009
dbSNP: rs72658177
rs72658177 		0.882 0.120 7 94420613 missense variant G/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 6 1993 2009
dbSNP: rs72658194
rs72658194 		0.925 0.120 7 94423074 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 6 1993 2009
dbSNP: rs1410254723
rs1410254723 		0.925 0.120 7 94404574 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs1554396271
rs1554396271 		0.925 0.120 7 94410899 missense variant G/A;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs1554396680
rs1554396680 		0.925 0.120 7 94413093 missense variant G/C snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs1562899031
rs1562899031 		0.925 0.120 7 94404858 missense variant G/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs1562900513
rs1562900513 		0.925 0.120 7 94408780 missense variant G/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs67543427
rs67543427 		0.776 0.240 7 94410457 missense variant G/A;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs72658129
rs72658129 		0.925 0.120 7 94413708 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs72659325
rs72659325 		0.882 0.120 7 94427008 missense variant G/C;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1993 2009
dbSNP: rs72658193
rs72658193 		0.925 0.120 7 94423056 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 5 1991 2006
dbSNP: rs1131692167
rs1131692167 		1.000 0.120 7 94409404 missense variant G/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554395411
rs1554395411 		0.925 0.120 7 94404702 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554395470
rs1554395470 		1.000 0.120 7 94405196 splice region variant T/G snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554395970
rs1554395970 		0.925 0.120 7 94408815 missense variant G/C snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554396612
rs1554396612 		0.925 0.120 7 94412656 missense variant G/C snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554396615
rs1554396615 		0.925 0.120 7 94412683 splice donor variant G/C snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554396983
rs1554396983 		0.925 0.120 7 94415254 missense variant G/C snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554398251
rs1554398251 		0.925 0.120 7 94425162 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554398261
rs1554398261 		0.925 0.120 7 94425199 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0