ZNF341, zinc finger protein 341, 84905

N. diseases: 17; N. variants: 8
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: rs746141726
rs746141726 		1.000 20 33757310 stop gained C/T snv 9.0E-06 7.0E-06
CUI: C4748969
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2018 2018
dbSNP: rs12625495
rs12625495 		20 33775731 intron variant G/A;C;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs12625495
rs12625495 		20 33775731 intron variant G/A;C;T snv
CUI: C0005910
Disease: Body Weight
Body Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs1568940507
rs1568940507 		1.000 20 33753265 stop gained C/T snv
CUI: C4748969
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2018 2018
dbSNP: rs376598954
rs376598954 		1.000 20 33781315 stop gained C/G;T snv 3.6E-05 7.0E-05
CUI: C4748969
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2018 2018
dbSNP: rs7274811
rs7274811 		20 33745375 intron variant G/T snv 0.23
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010
dbSNP: rs7274811
rs7274811 		20 33745375 intron variant G/T snv 0.23
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs78382342
rs78382342 		20 33772305 intron variant C/A snv 3.9E-02
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2018 2018
dbSNP: rs982121798
rs982121798 		1.000 20 33761989 stop gained C/T snv
CUI: C4748969
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2018 2018
dbSNP: rs1568945329
rs1568945329 		1.000 20 33761916 frameshift variant G/- del
CUI: C4748969
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE 		0.700 0