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: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0521525
Disease: Short neck
Short neck
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding)
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1839797
Disease: Deep philtrum
Deep philtrum
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1854114
Disease: Short nose
Short nose
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs397517148
rs397517148
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
0.700 0