ARHGAP6, Rho GTPase activating protein 6, 395

N. diseases: 17; N. variants: 20
Disease: MICROPHTHALMIA, SYNDROMIC 7 ×
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: rs121917889
rs121917889 		1.000 0.120 X 11121652 missense variant C/T snv
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 1 2006 2006
dbSNP: rs121917888
rs121917888 		1.000 0.120 X 11120974 stop gained C/T snv
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs193929392
rs193929392 		0.851 0.120 X 11118574 missense variant G/A snv
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0