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: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C4225267
Disease: HEIMLER SYNDROME 2
HEIMLER SYNDROME 2
0.800 1.000 0 2009 2016
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 8 1996 2016
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 8 1996 2016
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B
0.700 1.000 3 2004 2013
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
0.700 1.000 3 2004 2013
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s)
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0239137
Disease: Coxa valga
Coxa valga
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
Decreased CSF 5-hydroxyindolacetic acid
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0042798
Disease: Low Vision
Low Vision
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.700 0
dbSNP: rs61753219
rs61753219
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
Increased susceptibility to fractures
0.700 0