PRSS56, serine protease 56, 646960

N. diseases: 19; N. variants: 11
Disease: MICROPHTHALMIA, ISOLATED 6 ×
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: rs387907095
rs387907095 		0.925 0.080 2 232523492 missense variant G/C snv
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.800 1.000 3 2011 2011
dbSNP: rs387907096
rs387907096 		1.000 2 232522594 missense variant C/G;T snv
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.800 1.000 3 2011 2011
dbSNP: rs730882158
rs730882158 		1.000 2 232523524 missense variant G/A snv 7.6E-06 7.0E-06
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.800 0
dbSNP: rs730882160
rs730882160 		1.000 2 232523062 missense variant G/A;C snv 7.5E-06
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.800 0
dbSNP: rs730882161
rs730882161 		1.000 2 232523942 missense variant T/C snv 9.5E-06
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.800 0
dbSNP: rs61744404
rs61744404 		1.000 2 232525489 missense variant C/A;G snv 1.9E-05; 5.0E-02
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.700 1.000 3 2011 2011
dbSNP: rs730882064
rs730882064 		1.000 2 232523818 frameshift variant C/-;CC delins
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.700 0
dbSNP: rs730882159
rs730882159 		1.000 2 232523180 frameshift variant -/G delins
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.700 0
dbSNP: rs730882162
rs730882162 		1.000 2 232525249 missense variant G/A;C snv 2.6E-05
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.700 0
dbSNP: rs74703359
rs74703359 		1.000 2 232523470 missense variant G/T snv 1.0E-03 1.3E-03
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		0.700 0