ADAM19, ADAM metallopeptidase domain 19, 8728

N. diseases: 45; N. variants: 27
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 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: rs370356566
rs370356566 		1.000 5 157471733 missense variant G/A snv 2.1E-05 7.0E-06
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.800 1.000 3 2004 2016
dbSNP: rs199422217
rs199422217 		1.000 5 157468728 missense variant C/A;G snv 6.5E-04
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 1.000 7 2004 2016
dbSNP: rs775903553
rs775903553 		1.000 5 157463295 missense variant G/A;T snv 4.0E-06; 3.2E-05
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 1.000 3 2004 2016
dbSNP: rs1561831582
rs1561831582 		1.000 5 157471818 splice donor variant G/A snv
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 1.000 1 2007 2007
dbSNP: rs199422216
rs199422216 		1.000 5 157463303 stop gained C/A;T snv 4.0E-06; 3.6E-05
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 1.000 1 2004 2004
dbSNP: rs1561831443
rs1561831443 		1.000 5 157471749 frameshift variant ATACATG/- delins
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 0
dbSNP: rs373501601
rs373501601 		1.000 5 157472642 stop gained C/A;T snv 2.8E-05 2.8E-05
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 0
dbSNP: rs375688767
rs375688767 		1.000 5 157472448 missense variant G/A;C snv 2.0E-05; 4.0E-06
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 0
dbSNP: rs376803325
rs376803325 		1.000 5 157463275 missense variant C/A;T snv 1.2E-04
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 0