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
RS1644246627 C8A Health Risk Pathogenic —
RS1644247121 ISG15 Health Risk Pathogenic/Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
RS1644248738 HPDL Health Risk Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia
RS1644248782 HPDL Health Risk Pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS1644253428 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1644253602 HPDL Health Risk Pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS1644256586 MTHFR Health Risk Likely pathogenic Generalized cerebral atrophy/hypoplasia, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644259400 HPDL Health Risk Pathogenic —
RS1644265859 HPDL Health Risk Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS1644321851 PUM1 Health Risk Likely pathogenic Spinocerebellar ataxia 47, Spinocerebellar ataxia 47
RS1644340673 MUTYH Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1644345586 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1644347782 MTOR Health Risk Pathogenic Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II
RS1644348291 MTOR Health Risk Likely pathogenic CEBALID syndrome, CEBALID syndrome
RS1644348992 BSND Health Risk Pathogenic —
RS1644350830 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1644354028 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644355976 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644366950 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS1644368705 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644370527 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644375837 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644381879 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS1644394677 BSND Health Risk Pathogenic —
RS1644395880 BSND Health Risk Pathogenic —
RS1644429362 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1644468733 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644468935 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644471991 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS1644472852 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS1644478213 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS1644478359 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS1644478533 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS1644480834 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644480895 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644486654 MYSM1 Health Risk Pathogenic Bone marrow failure syndrome 4, Bone marrow failure syndrome 4
RS1644488970 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1644489808 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644492796 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644493041 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644493063 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644506661 PLEKHG5 Health Risk Likely pathogenic Juvenile amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis
RS1644509908 ALPL Health Risk Pathogenic Hypophosphatasia, Hypophosphatasia
RS1644509963 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Hypophosphatasia
RS1644511209 ALPL Health Risk Conflicting classifications of pathogenicity ALPL-related disorder, Hypophosphatasia
RS1644512630 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS1644514822 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644514998 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644515876 C8A Health Risk Pathogenic —
RS1644516691 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1644525008 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1644527306 ALPL Health Risk Pathogenic Inborn genetic diseases, Hypophosphataemia or rickets
RS1644529037 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS1644529451 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS1644529717 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS1644530053 RPL11 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia 7, Diamond-Blackfan anemia
RS1644530448 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644540599 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PLEKHG5-related disorder
RS1644543791 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644543906 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644544168 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644545351 PLEKHG5 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1644549927 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1644550472 PLEKHG5 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1644562014 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644562145 DOCK7 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 23
RS1644591704 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1644592603 ALPL Health Risk Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS1644593994 ALPL Health Risk Pathogenic —
RS1644602877 MACF1 Health Risk Likely pathogenic Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation
RS1644621336 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644624908 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1644626732 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1644629056 ALPL Health Risk Likely pathogenic —
RS1644631015 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644631895 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-related disorder, ALG6-congenital disorder of glycosylation 1C
RS1644631921 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644651573 PLEKHG5 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1644680378 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1644681544 PCSK9 Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS1644681692 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1644684403 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS1644685487 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS1644686464 ALPL Health Risk Likely pathogenic —
RS1644687066 ALPL Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Adult hypophosphatasia
RS1644719271 ALPL Health Risk Likely pathogenic —
RS1644719715 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, ALPL-related disorder
RS1644722615 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1644722881 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS1644722925 ALPL Health Risk Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS1644729088 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS1644739549 ALPL Health Risk Pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS1644740176 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS1644740557 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS1644741201 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS1644743243 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1644752699 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Hypophosphatasia
RS1644753808 ALPL Health Risk Pathogenic Hypophosphatasia, Hypophosphatasia
RS1644754641 ALPL Health Risk Likely pathogenic —
RS1644755133 ALPL Health Risk Likely pathogenic Hypophosphatasia, Childhood hypophosphatasia
« Prev 1 ... 1158 1159 1160 1161 1162 1163 1164 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →