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
RS1064795519 CHD7 Health Risk Likely pathogenic —
RS1064795521 MPZ Health Risk Likely pathogenic —
RS1064795522 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS1064795525 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795530 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1064795531 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS1064795533 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1064795534 KIF1A Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory
RS1064795536 TRPV4 Health Risk Conflicting classifications of pathogenicity TRPV4-related disorder, Charcot-Marie-Tooth disease axonal type 2C
RS1064795538 DNM1 Health Risk Likely pathogenic —
RS1064795540 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1064795543 TBL1XR1 Health Risk Pathogenic —
RS1064795546 HSPG2 Health Risk Likely pathogenic —
RS1064795547 TAB2 Health Risk Pathogenic —
RS1064795548 GYG1 Health Risk Likely pathogenic —
RS1064795549 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1064795550 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1064795551 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1064795554 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064795556 ATM Health Risk Likely pathogenic —
RS1064795558 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1064795559 MORC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Z, MORC2-related developmental disorder
RS1064795562 ERCC6 Health Risk Likely pathogenic —
RS1064795563 DYRK1A Health Risk Pathogenic —
RS1064795567 PURA Health Risk Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1064795570 KIF11 Health Risk Likely pathogenic —
RS1064795576 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1064795577 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1064795578 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795579 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1064795580 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS1064795581 KIRREL3 Health Risk Likely pathogenic —
RS1064795585 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Pierpont syndrome
RS1064795586 MED13L Health Risk Likely pathogenic —
RS1064795587 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1064795588 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS1064795591 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064795593 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1064795596 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1064795597 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1064795599 SLC52A2 Health Risk Likely pathogenic —
RS1064795600 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795602 AKT3 Health Risk Likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
RS1064795603 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064795606 EPG5 Health Risk Likely pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS1064795607 EP300 Health Risk Likely pathogenic —
RS1064795608 USP9X Health Risk Likely pathogenic —
RS1064795610 ATP8A2 Health Risk Likely pathogenic —
RS1064795618 EEF1A2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 38
RS1064795620 SCN1A Health Risk Likely pathogenic —
RS1064795621 PURA Health Risk Likely pathogenic —
RS1064795622 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS1064795623 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064795624 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1064795626 LARP7 Health Risk Likely pathogenic —
RS1064795628 CREBBP Health Risk Likely pathogenic —
RS1064795629 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS1064795630 AGL Health Risk Likely pathogenic —
RS1064795631 TH Health Risk Likely pathogenic —
RS1064795632 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS1064795634 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1064795635 MEN1 Health Risk Likely pathogenic —
RS1064795636 ENG Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS1064795637 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1064795638 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1064795639 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1064795640 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064795641 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064795642 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1064795645 SYNGAP1 Health Risk Likely pathogenic —
RS1064795647 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1064795648 KAT6A Health Risk Likely pathogenic —
RS1064795649 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ovarian Cancers
RS1064795651 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064795652 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1064795653 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1064795654 BMPR1A Health Risk Likely pathogenic —
RS1064795655 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Autism spectrum disorder
RS1064795657 JAK3 Health Risk Likely pathogenic —
RS1064795660 FOXN1 Health Risk Likely pathogenic T-cell immunodeficiency, congenital alopecia
RS1064795661 SETD2 Health Risk Likely pathogenic —
RS1064795662 SLC6A1 Health Risk Likely pathogenic —
RS1064795664 AARS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1064795665 SPTBN2 Health Risk Likely pathogenic —
RS1064795667 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064795668 CACNA1G Health Risk Likely pathogenic —
RS1064795672 CDKL5 Health Risk Pathogenic/Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1064795675 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1064795677 DYNC1H1 Health Risk Likely pathogenic —
RS1064795679 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1064795680 ZC4H2 Health Risk Pathogenic —
RS1064795682 ARID1A Health Risk Likely pathogenic —
RS1064795683 PQBP1 Health Risk Likely pathogenic —
RS1064795684 SLC20A2 Health Risk Likely pathogenic —
RS1064795685 COL6A2 Health Risk Likely pathogenic —
RS1064795686 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS1064795687 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1064795688 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1064795689 ADAR Health Risk Likely pathogenic —
RS1064795691 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
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