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
RS104894086 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS104894087 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS104894089 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Syndactyly-telecanthus-anogenital and renal malformations syndrome
RS104894090 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS104894091 TNFRSF11B Health Risk Pathogenic Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
RS104894093 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS104894094 CDKN2A Health Risk Pathogenic Melanoma, cutaneous malignant
RS104894095 CDKN2A Health Risk Pathogenic/Likely pathogenic Melanoma, cutaneous malignant
RS104894097 CDKN2A Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS104894098 CDKN2A Health Risk Pathogenic Melanoma, cutaneous malignant
RS104894099 CDKN2A Health Risk Pathogenic/Likely pathogenic Melanoma, cutaneous malignant
RS104894100 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS104894101 AK1 Health Risk Pathogenic Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
RS104894102 AK1 Health Risk Likely pathogenic Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to adenylate kinase deficiency
RS104894103 APTX Health Risk Pathogenic Ataxia, early-onset
RS104894105 FXN Health Risk Pathogenic Friedreich ataxia, Friedreich ataxia
RS104894106 FXN Health Risk Pathogenic Friedreich ataxia, Friedreich ataxia 1
RS104894107 FXN Health Risk Conflicting classifications of pathogenicity Friedreich ataxia, Friedreich ataxia 1
RS104894108 FXN Health Risk Pathogenic Friedreich ataxia, Friedreich ataxia 1
RS104894109 CDKN2A Health Risk Pathogenic/Likely pathogenic Melanoma, cutaneous malignant
RS104894110 FOXE1 Health Risk Pathogenic Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome
RS104894111 FOXE1 Health Risk Pathogenic Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome
RS104894113 KCNV2 Health Risk Pathogenic/Likely pathogenic Cone dystrophy with supernormal rod response, KCNV2-related disorder
RS104894117 LHX3 Health Risk Pathogenic Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS104894119 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS104894120 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS104894121 ROR2 Health Risk Pathogenic Brachydactyly type B1, Brachydactyly type B1
RS104894122 ROR2 Health Risk Pathogenic Brachydactyly type B1, Brachydactyly type B1
RS104894123 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS104894124 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS104894125 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS104894126 NR5A1 Health Risk Likely pathogenic 46, XY sex reversal 3
RS104894127 TPM2 Health Risk Pathogenic Arthrogryposis, distal
RS104894129 TPM2 Health Risk Pathogenic/Likely pathogenic Congenital myopathy 23, Arthrogryposis
RS104894130 TYRP1 Health Risk Pathogenic Oculocutaneous albinism type 3, ALBINISM
RS104894131 XPA Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS104894132 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS104894133 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS104894134 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS104894135 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894136 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894137 CYP17A1 Health Risk Likely pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894138 CYP17A1 Health Risk Pathogenic/Likely pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894139 CYP17A1 Health Risk Pathogenic/Likely pathogenic 17, 20-lyase deficiency
RS104894141 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894142 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894143 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894144 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894145 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894146 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894147 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894148 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894149 CYP17A1 Health Risk Likely pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894151 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894152 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894153 CYP17A1 Health Risk Likely pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894154 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894155 CYP17A1 Health Risk Pathogenic/Likely pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS104894158 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1D
RS104894159 EGR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease
RS104894161 EGR2 Health Risk Conflicting classifications of pathogenicity Dejerine-sottas neuropathy, autosomal dominant
RS104894162 GATA3 Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism, deafness
RS104894163 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS104894164 GATA3 Health Risk Pathogenic/Likely pathogenic Hypoparathyroidism, deafness
RS104894165 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS104894166 LGI1 Health Risk Pathogenic Epilepsy, familial temporal lobe
RS104894167 LGI1 Health Risk Pathogenic Epilepsy, familial temporal lobe
RS104894169 NODAL Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS104894170 PAX2 Health Risk Likely pathogenic Papillorenal syndrome with macular abnormalities, Focal segmental glomerulosclerosis 7
RS104894171 MINPP1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS104894172 PCBD1 Health Risk Pathogenic/Likely pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS104894173 PHYH Health Risk Likely pathogenic REFSUM DISEASE, ADULT
RS104894174 PHYH Health Risk Pathogenic/Likely pathogenic REFSUM DISEASE, ADULT
RS104894175 PITX3 Health Risk Likely pathogenic Cataract 11 multiple types, Cataract 11 multiple types
RS104894176 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS104894177 PCBD1 Health Risk Likely pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS104894178 PHYH Health Risk Pathogenic/Likely pathogenic REFSUM DISEASE, ADULT
RS104894179 PHYH Health Risk Pathogenic REFSUM DISEASE, ADULT
RS104894180 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS104894182 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS104894183 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS104894186 PTF1A Health Risk Pathogenic Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
RS104894187 RGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 44, Cone dystrophy
RS104894188 RPS24 Health Risk Pathogenic Diamond-Blackfan anemia 3, Diamond-Blackfan anemia 3
RS104894189 RPS24 Health Risk Pathogenic Diamond-Blackfan anemia 3, Diamond-Blackfan anemia
RS104894190 AIP Health Risk Conflicting classifications of pathogenicity Pituitary dependent hypercortisolism, Somatotroph adenoma
RS104894191 ALX4 Health Risk Pathogenic Parietal foramina 2, Parietal foramina 2
RS104894192 ALX4 Health Risk Pathogenic Parietal foramina 2, Parietal foramina 2
RS104894193 ALX4 Health Risk Pathogenic Parietal foramina 2, Parietal foramina 2
RS104894194 AIP Health Risk Pathogenic Pituitary adenoma predisposition, Somatotroph adenoma
RS104894195 AIP Health Risk Pathogenic Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS104894196 ALX4 Health Risk Pathogenic Parietal foramina 2, Parietal foramina 2
RS104894197 ALX4 Health Risk Pathogenic Parietal foramina 2, Parietal foramina 2
RS104894198 CLCF1 Health Risk Pathogenic Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2
RS104894199 CD3G Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS104894200 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS104894201 CRYAB Health Risk Pathogenic Myofibrillar myopathy 2, Myofibrillar myopathy 2
RS104894203 CLCF1 Health Risk Pathogenic Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2
RS104894204 CSRP3 Health Risk Pathogenic Hypertrophic cardiomyopathy 12, Cardiovascular phenotype
RS104894205 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
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