DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs120074163
rs120074163 		1.000 0.280 18 49257065 missense variant T/A snv 8.0E-06
CUI: C0265286
Disease: Dyggve-Melchior-Clausen syndrome
Dyggve-Melchior-Clausen syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2003 2009
dbSNP: rs120074165
rs120074165 		1.000 0.080 18 49118866 missense variant A/G snv
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 3 2003 2009
dbSNP: rs120074164
rs120074164 		1.000 0.080 18 49379693 missense variant C/T snv 4.0E-06
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 3 2003 2009
dbSNP: rs1787200
rs1787200 		18 49061284 intron variant G/A snv 0.71
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2011 2019
dbSNP: rs16950303
rs16950303 		18 49055989 intron variant A/G snv 0.12
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2015 2019
dbSNP: rs1787200
rs1787200 		18 49061284 intron variant G/A snv 0.71
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2011 2012
dbSNP: rs9967417
rs9967417 		18 49433130 intron variant G/C;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2010 2013
dbSNP: rs9967417
rs9967417 		18 49433130 intron variant G/C;T snv
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2010 2013
dbSNP: rs11659570
rs11659570 		18 49320739 intron variant C/T snv 0.31
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs11664336
rs11664336 		18 49078481 intron variant A/T snv 0.32
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs117406288
rs117406288 		18 49250518 intron variant C/T snv 1.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12458127
rs12458127 		18 49130988 intron variant C/T snv 0.10
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs141793746
rs141793746 		18 49311208 intron variant G/C;T snv
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		0.700 1.000 1 2017 2017
dbSNP: rs192446476
rs192446476 		18 49362269 intron variant G/C snv 5.5E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs2282546
rs2282546 		18 49041414 intron variant A/G snv 0.12
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs2878902
rs2878902 		18 49124067 intron variant G/T snv 0.67
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs357897
rs357897 		18 49057814 intron variant C/T snv 0.68
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2011 2011
dbSNP: rs3809924
rs3809924 		18 49363568 intron variant A/G snv 0.59
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs494752
rs494752 		18 49326900 intron variant G/C;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs71355378
rs71355378 		18 49292340 intron variant A/G snv 3.8E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs7236575
rs7236575 		18 49127010 intron variant G/A snv 0.24
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs7239949
rs7239949 		18 49092458 intron variant T/G snv 0.16
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2012 2012
dbSNP: rs7242873
rs7242873 		18 49358655 intron variant A/G snv 0.11
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018
dbSNP: rs72923818
rs72923818 		18 49157384 intron variant A/C snv 4.0E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs72923818
rs72923818 		18 49157384 intron variant A/C snv 4.0E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015