JAGN1, jagunal homolog 1, 84522

N. diseases: 10; N. variants: 8
Disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE ×
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: rs587777728
rs587777728 		1.000 3 9892955 missense variant C/T snv
CUI: C4014954
Disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs587777729
rs587777729 		1.000 3 9890785 missense variant G/T snv
CUI: C4014954
Disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs587777730
rs587777730 		1.000 3 9893310 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C4014954
Disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs777966677
rs777966677 		1.000 3 9890781 missense variant G/A snv 7.0E-06
CUI: C4014954
Disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs587777727
rs587777727 		1.000 3 9890725 start lost G/A snv 3.8E-05 2.8E-05
CUI: C4014954
Disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs587777731
rs587777731 		1.000 3 9890752 inframe deletion CCGACGGCA/- delins
CUI: C4014954
Disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs786205704
rs786205704 		1.000 3 9890762 missense variant G/A;T snv
CUI: C4014954
Disease: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE 		0.700 0