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: rs281875281
rs281875281 		1.000 0.120 9 14792753 missense variant A/C snv 1.3E-04 1.6E-04
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
Marles Greenberg Persaud syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.800 1.000 4 2007 2017
dbSNP: rs121912609
rs121912609 		1.000 0.120 9 14824929 missense variant G/A snv
CUI: C2750433
Disease: Bifid Nose With Or Without Anorectal And Renal Anomalies
Bifid Nose With Or Without Anorectal And Renal Anomalies 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2009 2009
dbSNP: rs121912610
rs121912610 		1.000 0.120 9 14784494 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C2750433
Disease: Bifid Nose With Or Without Anorectal And Renal Anomalies
Bifid Nose With Or Without Anorectal And Renal Anomalies 		Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2009 2009
dbSNP: rs184394424
rs184394424 		1.000 9 14842561 missense variant C/G;T snv 3.4E-04
CUI: C3280974
Disease: TRIGONOCEPHALY 2
TRIGONOCEPHALY 2 		0.800 1.000 1 2011 2011
dbSNP: rs281875280
rs281875280 		1.000 9 14776147 missense variant T/A;C snv 2.9E-05; 9.7E-06
CUI: C3280974
Disease: TRIGONOCEPHALY 2
TRIGONOCEPHALY 2 		0.800 1.000 1 2011 2011
dbSNP: rs281875282
rs281875282 		1.000 0.120 9 14740218 missense variant C/G;T snv 4.0E-06
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
Marles Greenberg Persaud syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 2 2011 2017
dbSNP: rs1048070
rs1048070 		9 14735055 3 prime UTR variant T/C snv 0.46
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10733289
rs10733289 		9 14775861 synonymous variant G/A;C snv 0.51
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs200861231
rs200861231 		9 14859403 missense variant C/A;T snv 5.2E-05 2.8E-05
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2013 2013
dbSNP: rs200861231
rs200861231 		9 14859403 missense variant C/A;T snv 5.2E-05 2.8E-05
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2013 2013
dbSNP: rs1338652795
rs1338652795 		1.000 0.120 9 14863833 missense variant T/C snv 4.0E-06
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
Marles Greenberg Persaud syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1552896
rs1552896 		9 14841389 intron variant C/A;G snv
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.010 1.000 1 2012 2012