SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2469025705 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469025786 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469027059 TTN Health Risk Pathogenic —
RS2469032266 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469032860 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469033264 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469033918 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2469034035 SATB2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2469034343 SATB2 Health Risk Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2469036249 WNT10A Health Risk Likely pathogenic Tooth agenesis, selective
RS2469036788 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469036894 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469037067 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2469037138 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2469037164 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2469037169 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2469037358 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS2469037478 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS2469037540 WNT10A Health Risk Likely pathogenic Odonto-onycho-dermal dysplasia, Odonto-onycho-dermal dysplasia
RS2469040078 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469040081 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469040102 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469040241 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469047745 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469051194 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469051879 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469051900 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469059412 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469059697 TTN Health Risk Likely pathogenic —
RS2469060867 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469061178 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2469061573 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469062080 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2469062184 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469062693 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469065049 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469065148 OBSL1 Health Risk Pathogenic —
RS2469065314 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS2469065805 OBSL1 Health Risk Pathogenic 3M syndrome 2, 3M syndrome 2
RS2469068787 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469069253 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469069452 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469069672 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2469069712 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2469077866 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469077959 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469078183 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469078388 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469080679 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469080713 SATB2 Health Risk Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2469080944 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469082011 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469083896 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469084389 TTN Health Risk Likely pathogenic Titinopathy, Dilated cardiomyopathy 1G
RS2469084903 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469085084 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469085285 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469085589 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469086767 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469088130 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469088141 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469091008 OBSL1 Health Risk Likely pathogenic 3M syndrome 2, 3M syndrome 2
RS2469091823 PGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 42
RS2469094152 PGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2469095187 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469096925 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469097290 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469098192 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469098389 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS2469098814 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469100063 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469100170 TTN Health Risk Likely pathogenic —
RS2469101147 OBSL1 Health Risk Likely pathogenic OBSL1-related disorder, OBSL1-related disorder
RS2469101483 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469102307 ABCA12 Health Risk Likely pathogenic —
RS2469105576 OBSL1 Health Risk Likely pathogenic OBSL1-related disorder, OBSL1-related disorder
RS2469105624 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469105653 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469106192 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469107889 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469107932 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469108370 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469108377 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469109067 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469111242 CRYGD Health Risk Likely pathogenic Aculeiform cataract, Aculeiform cataract
RS2469111254 CRYGD Health Risk Likely pathogenic Aculeiform cataract, Aculeiform cataract
RS2469111486 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469112296 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2469112532 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469112567 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2469112664 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2469112687 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2469113266 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469113424 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS2469113459 COL3A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2469113465 COL3A1 Health Risk Pathogenic See cases, See cases
RS2469114073 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469114085 CXCR2 Health Risk Pathogenic —
RS2469116583 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS2469117990 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
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