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: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.800 1.000 1 2016 2017
dbSNP: rs878853160
rs878853160
0.882 0.120 7 40046007 missense variant A/G snv
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
0.800 1.000 0 2016 2017
dbSNP: rs1057519632
rs1057519632
1.000 7 39999467 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 9 2009 2018
dbSNP: rs878853160
rs878853160
0.882 0.120 7 40046007 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 9 2009 2018
dbSNP: rs878853160
rs878853160
0.882 0.120 7 40046007 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 9 2009 2018
dbSNP: rs878853160
rs878853160
0.882 0.120 7 40046007 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 9 2009 2018
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
Small for gestational age (disorder)
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0239234
Disease: Low set ears
Low set ears
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1854114
Disease: Short nose
Short nose
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1853241
Disease: Flat face
Flat face
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C3808403
Disease: Large fleshy ears
Large fleshy ears
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
Absent proximal finger flexion creases
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0578531
Disease: Skin dimple
Skin dimple
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1836038
Disease: Poor head control
Poor head control
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles
0.700 1.000 1 2017 2017