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
RS886039624 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS886039625 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS886039626 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886039627 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS886039628 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS886039629 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886039630 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS886039631 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886039632 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS886039633 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS886039634 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886039635 PALB2 Health Risk Likely pathogenic —
RS886039636 CHD7 Health Risk Pathogenic —
RS886039637 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS886039638 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS886039639 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS886039640 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS886039641 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS886039642 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS886039643 ATM Health Risk Likely pathogenic —
RS886039644 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS886039645 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS886039646 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS886039647 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS886039648 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS886039649 ADNP Health Risk Pathogenic —
RS886039650 ASXL3 Health Risk Pathogenic —
RS886039651 CASK Health Risk Pathogenic —
RS886039652 DYRK1A Health Risk Pathogenic —
RS886039653 WWOX Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 1
RS886039654 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS886039655 ZEB2 Health Risk Pathogenic —
RS886039656 TERC Health Risk Pathogenic —
RS886039657 BTK Health Risk Pathogenic —
RS886039658 KMT2A Health Risk Likely pathogenic Microcephaly, Microcephaly
RS886039659 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS886039660 DYRK1A Health Risk Pathogenic —
RS886039661 PHEX Health Risk Pathogenic —
RS886039662 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS886039663 DMD Health Risk Pathogenic —
RS886039664 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS886039665 PAFAH1B1 Health Risk Pathogenic —
RS886039666 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS886039667 GLI3 Health Risk Pathogenic —
RS886039668 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS886039669 TK2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
RS886039670 ASXL1 Health Risk Pathogenic —
RS886039671 TUBGCP4 Health Risk Pathogenic —
RS886039672 AMER1 Health Risk Pathogenic —
RS886039673 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS886039674 EYA1 Health Risk Pathogenic —
RS886039675 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS886039676 ARID1B Health Risk Pathogenic —
RS886039677 GNAS Health Risk Pathogenic —
RS886039678 PTCH1 Health Risk Pathogenic —
RS886039679 ARID1B Health Risk Pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS886039680 TSC2 Health Risk Pathogenic —
RS886039681 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886039682 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS886039683 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886039685 CDH1 Health Risk Conflicting classifications of pathogenicity Blepharocheilodontic syndrome 1, Hereditary diffuse gastric adenocarcinoma
RS886039686 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886039687 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS886039688 CHD7 Health Risk Pathogenic —
RS886039689 COL1A2 Health Risk Pathogenic —
RS886039690 PDHA1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS886039691 PIGL Health Risk Pathogenic —
RS886039692 CHD8 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS886039693 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS886039694 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS886039695 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS886039696 JAG1 Health Risk Pathogenic —
RS886039697 ATM Health Risk Pathogenic —
RS886039698 NFIX Health Risk Pathogenic —
RS886039699 ARID1B Health Risk Pathogenic —
RS886039700 SOX9 Health Risk Pathogenic —
RS886039701 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS886039702 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS886039703 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS886039704 DNM2 Health Risk Pathogenic —
RS886039705 SCN1A Health Risk Pathogenic —
RS886039706 HDAC8 Health Risk Pathogenic —
RS886039707 PCDH19 Health Risk Pathogenic —
RS886039708 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS886039709 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS886039710 SCN2A Health Risk Pathogenic —
RS886039711 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS886039712 SCN1A Health Risk Pathogenic —
RS886039713 ANKRD11 Health Risk Pathogenic —
RS886039714 NR2F1 Health Risk Pathogenic —
RS886039715 RAI1 Health Risk Pathogenic —
RS886039716 CDC73 Health Risk Pathogenic —
RS886039717 NSD1 Health Risk Pathogenic —
RS886039718 CUL4B Health Risk Pathogenic —
RS886039719 DDX3X Health Risk Pathogenic —
RS886039720 COL7A1 Health Risk Pathogenic —
RS886039721 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Thyroid cancer
RS886039722 ASXL1 Health Risk Pathogenic —
RS886039724 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS886039725 CHD8 Health Risk Pathogenic —
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