Source: CLINVAR

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: rs769677823
rs769677823
HERC1
1.000 15 63623777 missense variant C/G;T snv 4.0E-06
CUI: C4310766
Disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 		0.800 1.000 0 2015 2015
dbSNP: rs797045141
rs797045141
HERC1
0.882 0.160 15 63696341 splice acceptor variant T/G snv
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.700 1.000 1 2016 2016
dbSNP: rs797045141
rs797045141
HERC1
0.882 0.160 15 63696341 splice acceptor variant T/G snv
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		0.700 1.000 1 2016 2016
dbSNP: rs797045141
rs797045141
HERC1
0.882 0.160 15 63696341 splice acceptor variant T/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 1 2016 2016
dbSNP: rs797045141
rs797045141
HERC1
0.882 0.160 15 63696341 splice acceptor variant T/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2016 2016
dbSNP: rs753780877
rs753780877
HERC1
1.000 15 63656210 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C4310766
Disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 		0.700 0
dbSNP: rs797045141
rs797045141
HERC1
0.882 0.160 15 63696341 splice acceptor variant T/G snv
CUI: C4310766
Disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 		0.700 0
dbSNP: rs879253786
rs879253786
HERC1
1.000 15 63734745 stop gained C/T snv
CUI: C4310766
Disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 		0.700 0