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
RS137853082 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS137853083 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS137853084 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS137853085 TALDO1 Health Risk Pathogenic Deficiency of transaldolase, Deficiency of transaldolase
RS137853086 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS137853087 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS137853088 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS137853089 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS137853090 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS137853091 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS137853092 WNK4 Health Risk Pathogenic Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS137853093 WNK4 Health Risk Likely pathogenic Pseudohypoaldosteronism type 2B, Renal tubulopathies
RS137853094 WNK4 Health Risk Pathogenic Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS137853095 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS137853096 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS137853097 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS137853098 RFXAP Health Risk Pathogenic MHC class II deficiency 4, MHC class II deficiency 4
RS137853100 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS137853101 HADH Health Risk Likely risk allele Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS137853102 HADH Health Risk Uncertain significance/Uncertain risk allele Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS137853103 HADH Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS137853104 AMHR2 Health Risk Likely pathogenic Persistent mullerian duct syndrome, type II
RS137853105 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel syndrome
RS137853106 TMEM67 Health Risk Pathogenic Meckel syndrome, type 3
RS137853107 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 6, COACH syndrome 1
RS137853108 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Meckel syndrome
RS137853109 DOLK Health Risk Pathogenic DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation
RS137853110 DOLK Health Risk Pathogenic DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation
RS137853111 SLC35D1 Health Risk Likely pathogenic Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS137853112 KLHL7 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 42, Retinitis pigmentosa 42
RS137853113 KLHL7 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 42, Retinitis pigmentosa
RS137853114 KLHL7 Health Risk Pathogenic Retinitis pigmentosa 42, Retinal dystrophy
RS137853115 IFT80 Health Risk Pathogenic Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2
RS137853116 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS137853117 MPLKIP Health Risk Pathogenic/Likely pathogenic Trichothiodystrophy 4, nonphotosensitive
RS137853119 TMPRSS6 Health Risk Pathogenic/Likely pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS137853120 TMPRSS6 Health Risk Likely pathogenic Microcytic anemia, Iron-refractory iron deficiency anemia
RS137853121 TMPRSS6 Health Risk Likely pathogenic Iron-refractory iron deficiency anemia, TMPRSS6-related disorder
RS137853122 TMPRSS6 Health Risk Pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS137853123 TMPRSS6 Health Risk Pathogenic/Likely pathogenic Microcytic anemia, Iron-refractory iron deficiency anemia
RS137853124 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis
RS137853125 SAR1B Health Risk Pathogenic Chylomicron retention disease, Chylomicron retention disease
RS137853126 SAR1B Health Risk Pathogenic Chylomicron retention disease, Chylomicron retention disease
RS137853127 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Intellectual disability
RS137853128 SOX9 Health Risk Pathogenic ACAMPOMELIC CAMPOMELIC DYSPLASIA, Inborn genetic diseases
RS137853129 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS137853130 SOX9 Health Risk Pathogenic CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, Camptomelic dysplasia
RS137853131 SLC27A4 Health Risk Pathogenic/Likely pathogenic Ichthyosis prematurity syndrome, Autosomal recessive congenital ichthyosis
RS137853132 SLC27A4 Health Risk Pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS137853134 SLC27A4 Health Risk Pathogenic/Likely pathogenic Ichthyosis prematurity syndrome, Lamellar ichthyosis
RS137853136 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS137853137 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS137853138 CRB1 Health Risk Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy, Retinitis pigmentosa
RS137853139 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation
RS137853140 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation
RS137853141 SLC34A2 Health Risk Pathogenic PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
RS137853142 SLC34A2 Health Risk Likely pathogenic PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
RS137853143 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS137853144 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS137853145 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS137853146 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS137853147 ADAMTS2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS137853148 PDGFRL Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS137853149 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS137853150 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Osteopetrosis
RS137853151 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS137853153 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS137853154 MKKS Health Risk Pathogenic BARDET-BIEDL SYNDROME 2/6, DIGENIC
RS137853156 MKKS Health Risk risk factor Bardet-Biedl syndrome 1, modifier of
RS137853158 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS137853159 SLC12A1 Health Risk Pathogenic Bartter disease type 1, SLC12A1-related disorder
RS137853160 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS137853161 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS137853162 THRA Health Risk Pathogenic Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
RS137853163 THRA Health Risk Pathogenic Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
RS137853165 STS Health Risk Pathogenic X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
RS137853166 STS Health Risk Pathogenic X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
RS137853167 STS Health Risk Conflicting classifications of pathogenicity X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
RS137853169 STS Health Risk Pathogenic X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
RS137853184 NDUFAF6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 17
RS137853185 LRTOMT Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 63, Rare genetic deafness
RS137853186 LRTOMT Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS137853187 LRTOMT Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS137853188 LRTOMT Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS137853189 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS137853190 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS137853191 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia 10, Kartagener syndrome
RS137853192 SDHAF1 Health Risk Pathogenic Mitochondrial complex 2 deficiency, nuclear type 2
RS137853193 SDHAF1 Health Risk Pathogenic Mitochondrial complex 2 deficiency, nuclear type 2
RS137853194 TUBB2B Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS137853195 TUBB2B Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS137853196 TUBB2B Health Risk Pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS137853197 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Primary dilated cardiomyopathy
RS137853199 EPHA2 Health Risk Pathogenic Cataract 6 multiple types, Cataract 6 multiple types
RS137853200 EPHA2 Health Risk Pathogenic Cataract 6 multiple types, Cataract 6 multiple types
RS137853202 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS137853203 AK1 Health Risk Pathogenic Hemolytic anemia due to adenylate kinase deficiency, Hepatocellular carcinoma
RS137853204 AK1 Health Risk Pathogenic Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
RS137853205 AK1 Health Risk Pathogenic Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
RS137853206 AK2 Health Risk Pathogenic Reticular dysgenesis, Severe combined immunodeficiency disease
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