RARB, retinoic acid receptor beta, 5915

N. diseases: 254; N. variants: 34
Disease: MICROPHTHALMIA, SYNDROMIC 12 ×
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: rs397518483
rs397518483 		0.851 0.120 3 25596428 missense variant C/A;T snv
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 1.000 1 2013 2013
dbSNP: rs869025222
rs869025222 		0.827 0.240 3 25580574 missense variant T/C snv
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 1.000 1 2016 2016
dbSNP: rs1553637470
rs1553637470 		1.000 3 25593588 missense variant A/T snv
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 0
dbSNP: rs397518481
rs397518481 		0.925 0.120 3 25501230 stop gained C/G;T snv
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 0
dbSNP: rs397518482
rs397518482 		1.000 3 25596470 frameshift variant -/TC delins
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 0
dbSNP: rs869025221
rs869025221 		0.925 0.080 3 25593603 missense variant G/C snv
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 0