HOMER2, homer scaffold protein 2, 9455

N. diseases: 29; 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: rs864309524
rs864309524 		1.000 15 82854741 missense variant C/G;T snv 4.0E-06
CUI: C4225240
Disease: DEAFNESS, AUTOSOMAL DOMINANT 68
DEAFNESS, AUTOSOMAL DOMINANT 68 		0.800 1.000 1 2015 2015
dbSNP: rs2046071
rs2046071 		1.000 0.040 15 82838299 3 prime UTR variant G/A snv 0.47
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7182990
rs7182990 		15 82845847 3 prime UTR variant A/G snv 0.48
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1256429
rs1256429 		1.000 0.080 15 82852284 non coding transcript exon variant C/T snv 0.79 0.83
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015