Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0011334
Disease: Dental caries
Dental caries 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C4024881
Disease: Few cafe-au-lait spots
Few cafe-au-lait spots 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0544755
Disease: Genu varum
Genu varum 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0004096
Disease: Asthma
Asthma 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C4693704
Disease: SHWACHMAN-DIAMOND SYNDROME 2
SHWACHMAN-DIAMOND SYNDROME 2 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0018965
Disease: Hematuria
Hematuria 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.700 0