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
RS1786516110 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786518484 EGFR Health Risk Likely pathogenic Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS1786532924 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786558070 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786558148 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786558577 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786631768 KCTD7 Health Risk Pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS1786667696 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786669549 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786673966 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786674391 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1786675239 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786713307 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786714587 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786746301 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786750679 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786770612 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786823829 ARID1B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1786833331 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1786839596 PGM3 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1786845541 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, Inborn genetic diseases
RS1786848141 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1786857910 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786860270 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1786864520 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS1786877657 PKD1L1 Health Risk Likely pathogenic Heterotaxy, visceral
RS1786879628 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1786880122 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786894242 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1786959370 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1787002281 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS1787039042 SEC63 Health Risk Pathogenic/Likely pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS1787041288 SEC63 Health Risk Likely pathogenic Polycystic liver disease 2, Autosomal dominant polycystic liver disease
RS1787058325 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1787059737 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1787098071 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS1787109472 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS1787127981 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1787131313 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1787139771 GLI3 Health Risk Likely pathogenic —
RS1787146494 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1787147374 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS1787147868 GLI3 Health Risk Pathogenic polysyndactyly, polysyndactyly
RS1787150198 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1787156507 PKD1L1 Health Risk Likely pathogenic PKD1L1-related disorder, PKD1L1-related disorder
RS1787180396 GLI3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1787181000 GLI3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1787182897 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1787185991 GLI3 Health Risk Pathogenic/Likely pathogenic —
RS1787228771 CDK13 Health Risk Pathogenic —
RS1787294032 CPLANE1 Health Risk Likely pathogenic Median cleft lip and palate, Dysgenesis of the cerebellar vermis
RS1787347907 AHI1 Health Risk Pathogenic Joubert syndrome with ocular defect, Joubert syndrome with ocular defect
RS1787388036 GNAI1 Health Risk Likely pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS1787394130 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS1787407031 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Ovarian cancer
RS1787407972 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS1787409872 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS1787457978 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1787541407 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1787601205 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS17876032 F12 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, Factor XII deficiency disease
RS1787715929 PKD1L1 Health Risk Likely pathogenic PKD1L1-related disorder, PKD1L1-related disorder
RS1787740370 BLTP1 Health Risk Pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1787750092 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS1787768161 PKD1L1 Health Risk Likely pathogenic —
RS1787819788 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1787830570 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS17878522 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1787859607 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS1787861114 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1787862380 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1787875866 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS17878854 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS17879189 PHOX2B Health Risk Pathogenic Neuroblastoma, susceptibility to
RS17879961 CHEK2 Health Risk Conflicting classifications of pathogenicity CHEK2-related cancer predisposition, Hereditary cancer-predisposing syndrome
RS17880082 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS1788056577 PGM3 Health Risk Likely pathogenic Immunodeficiency 23, Immunodeficiency 23
RS1788069498 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1788074933 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1788076877 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1788078377 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1788083949 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1788086604 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS17881753 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS17881780 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS1788192479 PGM3 Health Risk Likely pathogenic Immunodeficiency 23, Immunodeficiency 23
RS1788219551 RARS2 Health Risk Pathogenic/Likely pathogenic —
RS17882252 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS17882922 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS17882942 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS17883172 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS17883283 CAPN1 Health Risk Conflicting classifications of pathogenicity Uveal melanoma, Uveal melanoma
RS1788331355 BMPER Health Risk Pathogenic —
RS17883400 FGFR3 Health Risk Conflicting classifications of pathogenicity Achondroplasia, Inborn genetic diseases
RS17883862 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1788391157 SNX10 Health Risk Pathogenic —
RS17884050 FCSK Health Risk Conflicting classifications of pathogenicity FCSK-related disorder, FCSK-related disorder
RS17884120 MMP1 Health Risk Conflicting classifications of pathogenicity —
RS1788434297 GNAI1 Health Risk Likely pathogenic Seizure, Seizure
RS1788434338 GNAI1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia
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