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
RS1794873824 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1794873983 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1794878769 TSPAN12 Health Risk Pathogenic —
RS1794879475 CUX1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1794880739 ELN Health Risk Pathogenic Williams syndrome, Williams syndrome
RS179489 KCNQ1 Health Risk Pathogenic Long QT syndrome, Congenital long QT syndrome
RS1794916576 CNTNAP2 Health Risk Pathogenic/Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1794918929 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS1794924933 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS1794951633 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1795015022 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1795029901 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1795069423 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1795110728 AASS Health Risk Pathogenic Hyperlysinemia, Hyperlysinemia
RS1795183662 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1795205877 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1795220933 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1795316019 CPLANE1 Health Risk Pathogenic —
RS1795316757 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1795353084 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1795356111 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1795413179 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1795430058 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1795435288 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1795437460 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1795441247 MMP21 Health Risk Likely pathogenic Heterotaxy, visceral
RS1795515981 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1795518054 PCLO Health Risk Pathogenic —
RS1795541254 CCM2 Health Risk Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1795596096 C19orf12 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43
RS1795637153 TRAF3IP2 Health Risk Pathogenic Candidiasis, familial
RS1795644961 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1795645080 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1795652293 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1795654181 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1795752214 PCLO Health Risk Pathogenic —
RS1795765698 PCLO Health Risk Conflicting classifications of pathogenicity —
RS1795851272 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1795852638 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1795853533 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1795856406 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1795923815 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1795936426 TRIO Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1796033726 CPLANE1 Health Risk Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1796054104 AP4M1 Health Risk Likely pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS1796061500 CPLANE1 Health Risk Pathogenic —
RS1796087833 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1796090545 KRIT1 Health Risk Pathogenic —
RS1796107143 TRAF3IP2 Health Risk Pathogenic Candidiasis, familial
RS1796176171 AP4M1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1796247872 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1796279189 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS1796355377 EYA4 Health Risk Pathogenic —
RS1796390308 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1796390355 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1796390486 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1796391959 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1796406634 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1796431541 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1796448992 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1796449608 CPA1 Health Risk Likely pathogenic —
RS1796506869 CPLANE1 Health Risk Pathogenic —
RS1796511665 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1796511689 CPLANE1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS1796575397 CPLANE1 Health Risk Pathogenic —
RS1796678879 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS1796684525 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrin deficiency
RS1796684604 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS1796703260 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS1796729286 PDE8B Health Risk Likely pathogenic —
RS1796899754 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS1796939367 KEL Health Risk Pathogenic Kell blood group system, Kell blood group system
RS1796956272 CEP41 Health Risk Likely pathogenic Joubert syndrome 15, Joubert syndrome 15
RS1797012961 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1797063858 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1797182637 SLC4A2 Health Risk Pathogenic Osteopetrosis, autosomal recessive 9
RS1797218441 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1797225811 ELN Health Risk Pathogenic Cutis laxa, autosomal dominant 1
RS1797324598 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1797327591 CCM2 Health Risk Likely pathogenic Cerebral cavernous angioma, Subcutaneous venous lacunae
RS1797356889 CEP41 Health Risk Likely pathogenic Joubert syndrome 15, Joubert syndrome 15
RS1797490749 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1797560612 AGK Health Risk Pathogenic Sengers syndrome, Cataract 38
RS1797572218 KMT2E Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1797574932 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS1797607693 GIMAP5 Health Risk Pathogenic/Likely pathogenic Portal hypertension, noncirrhotic
RS1797714974 CEP41 Health Risk Pathogenic Joubert syndrome 15, Joubert syndrome 15
RS1797725670 MDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1797769314 KMT2E Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1797770708 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1797772026 RP1L1 Health Risk Likely pathogenic Occult macular dystrophy, Occult macular dystrophy
RS1797825562 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Occult macular dystrophy
RS1797840556 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1797868307 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1797899160 RP1L1 Health Risk Likely pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS1797910388 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1797913431 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS1797973431 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1797999551 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1798067945 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
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