ANTXR2, ANTXR cell adhesion molecule 2, 118429

N. diseases: 143; N. variants: 27
Disease: Hyalinosis, Systemic ×
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: rs137852902
rs137852902 		1.000 0.080 4 80055996 missense variant C/T snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 3 2003 2005
dbSNP: rs137852901
rs137852901 		1.000 0.080 4 79983915 missense variant T/A;C snv 8.1E-06
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 2003 2005
dbSNP: rs137852903
rs137852903 		1.000 0.080 4 80008576 missense variant A/C snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 2003 2005
dbSNP: rs137852905
rs137852905 		1.000 0.080 4 80054342 missense variant A/G snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 3 2003 2005
dbSNP: rs781637328
rs781637328 		1.000 0.080 4 80036017 missense variant A/G snv 2.3E-05
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 2003 2005
dbSNP: rs886041401
rs886041401 		1.000 0.080 4 80072427 missense variant A/C;G snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 2003 2005
dbSNP: rs1560998734
rs1560998734 		1.000 0.080 4 80018898 frameshift variant ACATTCTGTGGCTGTGACAATTAATGATCCTGAAATGACAGATTTTCCTCCATTAAAGCTCACTGAAACATCAAGAGTT/- del
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs797045028
rs797045028 		1.000 0.080 4 79978049 frameshift variant G/- delins
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs797045029
rs797045029 		1.000 0.080 4 80069491 missense variant A/G snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs137852904
rs137852904 		1.000 0.080 4 80036011 stop gained C/A;T snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553933367
rs1553933367 		1.000 0.080 4 80018939 frameshift variant -/T delins
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs312262690
rs312262690 		0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs546102223
rs546102223 		1.000 0.080 4 79983878 splice region variant C/T snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886039907
rs886039907 		0.925 0.120 4 79983909 missense variant C/T snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1173040945
rs1173040945 		1.000 0.080 4 80055957 missense variant G/T snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008