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: rs1562907190
rs1562907190 		0.925 0.120 7 94425858 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 1.000 5 1984 2017
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: rs72656370
rs72656370 		0.882 0.120 7 94406286 missense variant G/A snv 4.0E-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 2006 2015
dbSNP: rs72656375
rs72656375 		0.925 0.120 7 94407845 splice acceptor variant A/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 1.000 5 1984 2017
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: 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: 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: 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: rs1114167416
rs1114167416 		1.000 0.120 7 94404694 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 1 2015 2015
dbSNP: rs1114167417
rs1114167417 		1.000 0.120 7 94409322 missense variant G/A;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 1 2015 2015
dbSNP: rs1114167418
rs1114167418 		1.000 0.120 7 94409385 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 1 2015 2015
dbSNP: rs67768540
rs67768540 		0.925 0.120 7 94427663 missense variant G/A;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 1 2015 2015
dbSNP: rs68132885
rs68132885 		1.000 0.120 7 94410532 splice region variant G/A;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 1 2015 2015
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: rs72658143
rs72658143 		1.000 0.120 7 94416441 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 1 2015 2015
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
dbSNP: rs1562900123
rs1562900123 		0.925 0.120 7 94407890 splice donor variant CAGTAAGT/- del
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0