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
RS1938661102 COL2A1 Health Risk Pathogenic —
RS1938666838 KRT5 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS1938667202 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS1938679596 KRT5 Health Risk Likely pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS1938686073 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS1938688718 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS1938701120 ARCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1938702028 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Seizures
RS1938703307 SCN8A Health Risk Conflicting classifications of pathogenicity Seizure, Autosomal recessive inheritance
RS1938703803 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1938705533 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1938712776 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1938712937 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1938713472 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1938714598 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1938716355 COL2A1 Health Risk Pathogenic —
RS1938718512 COL2A1 Health Risk Likely pathogenic —
RS1938718648 COL2A1 Health Risk Pathogenic/Likely pathogenic COL2A1-related skeletal dysplasia, Spondyloepiphyseal dysplasia congenita
RS1938719104 COL2A1 Health Risk Likely pathogenic Type 2 collagenopathy, Type 2 collagenopathy
RS1938721157 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1938725748 SCN8A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1938732355 COL2A1 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia congenita, 8 conditions
RS1938733899 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1938737050 COL2A1 Health Risk Likely pathogenic —
RS1938737244 COL2A1 Health Risk Likely pathogenic —
RS1938739577 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1938751649 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1938761666 HPS1 Health Risk Pathogenic —
RS1938789249 UBA5 Health Risk Likely pathogenic —
RS1938789358 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1938797743 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1938818395 COL2A1 Health Risk Likely pathogenic Type 2 collagenopathy, Type 2 collagenopathy
RS1938819381 UBA5 Health Risk Pathogenic —
RS1938845386 COL2A1 Health Risk Pathogenic —
RS1938845595 COL2A1 Health Risk Pathogenic —
RS1938864270 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS1938871701 COL2A1 Health Risk Likely pathogenic —
RS1938872900 COL2A1 Health Risk Pathogenic —
RS1938940159 ARCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Short stature
RS1938958532 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1938981293 EI24 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1939004215 COL2A1 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS1939028166 PCDH15 Health Risk Likely pathogenic —
RS1939031863 COL2A1 Health Risk Likely pathogenic —
RS1939038006 COL2A1 Health Risk Likely pathogenic —
RS1939045407 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1939060948 ARCN1 Health Risk Likely pathogenic Short stature, rhizomelic
RS1939108031 COL2A1 Health Risk Likely pathogenic —
RS1939111919 NPHP3 Health Risk Likely pathogenic Nephronophthisis 3, Nephronophthisis 3
RS1939124946 COL2A1 Health Risk Pathogenic Achondrogenesis type II, Achondrogenesis type II
RS1939127867 COL2A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1939173389 COL2A1 Health Risk Likely pathogenic Type 2 collagenopathy, Spondyloepiphyseal dysplasia
RS1939183391 NPHP3 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1939189846 COL2A1 Health Risk Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia with metatarsal shortening, Stickler syndrome type 1
RS193919333 MYO3A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS193919334 PRODH Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS193919335 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS193919336 POMGNT1 Health Risk Likely pathogenic Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS193919337 POMGNT1 Health Risk Pathogenic Retinitis pigmentosa 76, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS193919338 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS193919339 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS193919340 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS193919341 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4B
RS1939205327 COL2A1 Health Risk Pathogenic/Likely pathogenic Connective tissue disorder, Spondyloepiphyseal dysplasia congenita
RS193920774 TP53 Health Risk Conflicting classifications of pathogenicity Prostate cancer, Squamous cell carcinoma of the head and neck
RS193920789 TP53 Health Risk Pathogenic Prostate cancer, Li-Fraumeni syndrome
RS193920817 TP53 Health Risk Pathogenic/Likely pathogenic Prostate cancer, Hereditary cancer-predisposing syndrome
RS193920894 SPOP Health Risk Conflicting classifications of pathogenicity Prostate cancer, Neoplasm
RS193920927 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS193921045 NOTCH3 Health Risk Pathogenic Prostate cancer, Cerebral arteriopathy
RS193921082 CASR Health Risk Conflicting classifications of pathogenicity Prostate cancer, Familial hypocalciuric hypercalcemia
RS193921097 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS193921146 EZH2 Health Risk Pathogenic Weaver syndrome, Weaver syndrome
RS193921147 EZH2 Health Risk Pathogenic Weaver syndrome, Weaver syndrome
RS193921148 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS193921256 FBN1 Health Risk Pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome
RS193921338 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS193921400 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS193922093 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS193922097 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS193922098 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, History of neurodevelopmental disorder
RS193922100 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS193922102 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, ATP7B-related disorder
RS193922103 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS193922104 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS193922107 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS193922109 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS193922110 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS193922111 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS193922112 AVPR2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922113 AVPR2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922114 AVPR2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922115 AVPR2 Health Risk Pathogenic/Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922116 AVPR2 Health Risk Pathogenic/Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922117 AVPR2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922118 AVPR2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic syndrome of inappropriate antidiuresis
RS193922119 AVPR2 Health Risk Pathogenic Nephrogenic diabetes insipidus, Diabetes insipidus
RS193922120 AVPR2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922121 AVPR2 Health Risk Pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922122 AVPR2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
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