SMC3, structural maintenance of chromosomes 3, 9126

N. diseases: 193; N. variants: 21
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: rs886041239
rs886041239 		1.000 0.160 10 110593202 missense variant A/G snv
CUI: C0025160
Disease: Megacolon
Megacolon 		Digestive System Diseases 0.700 0
dbSNP: rs886041239
rs886041239 		1.000 0.160 10 110593202 missense variant A/G snv
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs901512521
rs901512521 		1.000 0.080 10 110602900 missense variant C/A;G;T snv
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1564792181
rs1564792181 		1.000 0.080 10 110589931 inframe deletion GCT/- delins
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1564794233
rs1564794233 		1.000 0.080 10 110596545 missense variant T/C snv
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1564796294
rs1564796294 		1.000 0.080 10 110602889 missense variant C/T snv
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs797045070
rs797045070 		1.000 0.080 10 110581962 missense variant T/C snv
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016