CLDN14, claudin 14, 23562

N. diseases: 36; N. variants: 17
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29 ×
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: rs368027306
rs368027306 		1.000 21 36461454 missense variant C/A;T snv 1.6E-05
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.800 1.000 3 2001 2013
dbSNP: rs74315437
rs74315437 		1.000 21 36461442 missense variant A/G;T snv 4.0E-06; 2.0E-05
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.800 1.000 3 2001 2013
dbSNP: rs786204841
rs786204841 		1.000 21 36461002 missense variant C/T snv
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.800 0
dbSNP: rs143797113
rs143797113 		1.000 21 36461208 missense variant G/A snv 2.9E-04 4.5E-04
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.700 1.000 2 2016 2017
dbSNP: rs1568839335
rs1568839335 		1.000 21 36461505 missense variant C/T snv
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.700 0
dbSNP: rs371100799
rs371100799 		1.000 21 36461529 stop gained C/T snv 2.4E-05 2.8E-05
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.700 0
dbSNP: rs74315438
rs74315438 		1.000 21 36461395 missense variant C/T snv 4.0E-05 3.5E-05
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.700 0
dbSNP: rs786200885
rs786200885 		1.000 21 36461298 frameshift variant A/- del 4.1E-06
CUI: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		0.700 0