Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554385203
rs1554385203
CAMK2B
1.000 7 44241751 missense variant T/A snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 2 2017 2018
dbSNP: rs1554386687
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 2 2017 2018
dbSNP: rs1554387293
rs1554387293
CAMK2B
1.000 7 44242618 missense variant G/A snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 2 2017 2018
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 2 2017 2018
dbSNP: rs1554402092
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 2 2017 2018
dbSNP: rs1554385111
rs1554385111
CAMK2B
1.000 7 44241702 missense variant T/C snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.700 1.000 2 2017 2018
dbSNP: rs555460132
rs555460132
CAMK2B
1.000 0.080 7 44228798 missense variant G/A snv 1.9E-04 2.0E-04
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0