SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS864622617 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS864622618 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622620 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS864622622 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622624 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622626 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS864622629 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS864622630 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS864622632 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS864622636 CDKN2A Health Risk Pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS864622639 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS864622640 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622644 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS864622646 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS864622647 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622651 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS864622654 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622655 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS864622656 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS864622658 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622662 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622663 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS864622664 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS864622666 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS864622669 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622671 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS864622672 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622674 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS864622676 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS864622678 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS864622685 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS864622686 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622687 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622689 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622695 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622696 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622704 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS864622707 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS864622717 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622722 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS864622723 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622730 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622731 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622732 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS864622735 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS864622739 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS864622740 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622745 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622748 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS864622754 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS864622757 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622760 ANK2 Health Risk Likely pathogenic See cases, See cases
RS864622762 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS864622766 POLE Health Risk Likely pathogenic —
RS864622771 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS864622772 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS864622773 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS864622774 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS864622775 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS864622776 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS864622777 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS864622778 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS864622779 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS864622780 LSS Health Risk Pathogenic Cataract 44, Cataract 44
RS864622781 HTRA1 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS864622782 HTRA1 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS864622783 HTRA1 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS864622784 TRAIP Health Risk Pathogenic Seckel syndrome 9, Seckel syndrome 9
RS864622785 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS865777690 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS865779742 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Inborn genetic diseases
RS865782015 VAV1 Health Risk Conflicting classifications of pathogenicity —
RS865784613 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS865809219 CFAP300 Health Risk Likely pathogenic —
RS865818297 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS865818494 ANKLE2 Health Risk Conflicting classifications of pathogenicity Microcephaly 16, primary
RS865825533 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS865838543 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS865842167 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked Alport syndrome
RS865850464 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS865856945 DMD Health Risk Pathogenic Becker muscular dystrophy, Dilated cardiomyopathy 3B
RS865858930 ADA2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Deficiency of adenosine deaminase 2
RS865866188 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS865866339 NCAPH Health Risk Likely pathogenic Microcephaly 23, primary
RS865866667 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS865867764 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Generalized epilepsy with febrile seizures plus
RS865870355 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS865873514 TAOK1 Health Risk Pathogenic —
RS865878627 FGF14 Health Risk Pathogenic Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A
RS865879286 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS865887222 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Muscular channelopathy
RS865888375 EEF1A2 Health Risk Pathogenic Intellectual disability, autosomal dominant 38
RS865890773 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS865899765 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS865901577 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS865903260 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS865903887 COL2A1 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1
RS865904271 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS865906227 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS865909396 ZNF292 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Neurodevelopmental disorder
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