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: rs1006994885
rs1006994885
ABCC6
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C1867453
Disease: Peau d'orange retinal changes
Peau d'orange retinal changes 		0.700 0
dbSNP: rs1006994885
rs1006994885
ABCC6
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C0332563
Disease: Papule
Papule 		0.700 0
dbSNP: rs1006994885
rs1006994885
ABCC6
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque 		0.700 0
dbSNP: rs1006994885
rs1006994885
ABCC6
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.700 0
dbSNP: rs1007338250
rs1007338250
HEXB
1.000 0.120 5 74685558 stop gained C/G;T snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		0.700 0
dbSNP: rs1007345781
rs1007345781
TTC14 ; CCDC39
3 180616604 frameshift variant GT/- delins 8.7E-06 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2013 2013
dbSNP: rs1007534611
rs1007534611
CRMP1 ; EVC
1.000 0.120 4 5809612 splice donor variant G/T snv 4.0E-06 2.1E-05
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.700 0
dbSNP: rs1007812513
rs1007812513
GTPBP2
1.000 6 43622692 stop gained G/A snv
CUI: C4693848
Disease: JABERI-ELAHI SYNDROME
JABERI-ELAHI SYNDROME 		0.700 0
dbSNP: rs1008088032
rs1008088032
NKX6-2
1.000 10 132785151 missense variant C/G;T snv 4.1E-06
CUI: C4479653
Disease: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 		0.700 0
dbSNP: rs1008240677
rs1008240677
TTPA
1.000 0.120 8 63086009 stop gained G/A snv
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		0.700 0
dbSNP: rs1008438
rs1008438
HSPA1A ; HSPA1L
0.807 0.120 6 31815431 upstream gene variant A/C;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.710 1.000 0 2019 2019
dbSNP: rs1008642
rs1008642
CAV3 ; SSUH2
0.882 0.120 3 8733975 missense variant C/A;G;T snv 0.29
CUI: C3280443
Disease: MYOPATHY, DISTAL, TATEYAMA TYPE
MYOPATHY, DISTAL, TATEYAMA TYPE 		0.700 0
dbSNP: rs1008745697
rs1008745697
MAN2B1
1.000 0.080 19 12649341 splice region variant C/T snv 4.0E-06
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		0.700 1.000 1 2012 2012
dbSNP: rs1008834111
rs1008834111
GCDH
1.000 0.120 19 12896320 stop gained C/T snv
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		0.700 0
dbSNP: rs1008906426
rs1008906426
ABCC8
1.000 0.120 11 17394412 intron variant C/G;T snv 4.0E-06; 4.0E-06; 2.0E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 1.000 2 2013 2013
dbSNP: rs10090787
rs10090787
SNTB1 ; LOC107986874
1.000 0.080 8 120798309 intron variant C/T snv 0.34
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.710 1.000 0 2017 2017
dbSNP: rs10090787
rs10090787
SNTB1 ; LOC107986874
1.000 0.080 8 120798309 intron variant C/T snv 0.34
CUI: C0149744
Disease: Oral lesion
Oral lesion 		0.700 0
dbSNP: rs1009131948
rs1009131948
TTN ; TTN-AS1
1.000 0.120 2 178527548 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C0973461
Disease: Dysphasia
Dysphasia 		0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.700 0