MARVELD2, MARVEL domain containing 2, 153562

N. diseases: 26; N. variants: 4
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: rs118203957
rs118203957 		0.925 0.120 5 69433088 stop gained C/G;T snv 8.0E-06; 1.0E-04; 4.0E-06 9.1E-05
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2006 2015
dbSNP: rs118203957
rs118203957 		0.925 0.120 5 69433088 stop gained C/G;T snv 8.0E-06; 1.0E-04; 4.0E-06 9.1E-05
CUI: C4017220
Disease: DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49 		0.700 0
dbSNP: rs1561299289
rs1561299289 		5 69432566 frameshift variant -/A delins
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs200781822
rs200781822 		1.000 0.120 5 69432526 splice acceptor variant G/A snv 1.2E-05
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs762352115
rs762352115 		1.000 0.120 5 69432676 splice donor variant G/A snv 8.0E-06 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs762352115
rs762352115 		1.000 0.120 5 69432676 splice donor variant G/A snv 8.0E-06 1.4E-05
CUI: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0