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
RS2517574850 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517575259 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517575718 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517575875 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517576039 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517576148 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517577085 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517578279 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517578591 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517578772 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517578834 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517579169 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517579439 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517579694 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517579917 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517580522 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517580853 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517581052 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517581250 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517582025 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517582422 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517583431 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517583520 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517583529 MYO18B Health Risk Pathogenic —
RS2517583657 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517583664 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517585923 ZNRF3 Health Risk Pathogenic ZNRF3-related disorder, ZNRF3-related disorder
RS2517588823 MORC2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS2517589745 ZNRF3 Health Risk Conflicting classifications of pathogenicity ZNRF3-related disorder, ZNRF3-related disorder
RS2517589753 ZNRF3 Health Risk Pathogenic ZNRF3-related disorder, ZNRF3-related disorder
RS2517589889 MORC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS2517590778 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517591012 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2517591405 ZNRF3 Health Risk Pathogenic ZNRF3-related disorder, ZNRF3-related disorder
RS2517591470 ZNRF3 Health Risk Pathogenic ZNRF3-related disorder, ZNRF3-related disorder
RS2517591496 ZNRF3 Health Risk Pathogenic ZNRF3-related disorder, ZNRF3-related disorder
RS2517591567 ZNRF3 Health Risk Pathogenic ZNRF3-related disorder, ZNRF3-related disorder
RS2517595954 CNOT3 Health Risk Pathogenic —
RS2517601712 MORC2 Health Risk Likely pathogenic Developmental delay, impaired growth
RS2517605174 COL18A1 Health Risk Pathogenic —
RS2517607780 COL18A1 Health Risk Pathogenic —
RS2517608676 COL18A1 Health Risk Pathogenic —
RS2517609684 TRAPPC10 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, short stature
RS2517611666 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS2517612562 MYO18B Health Risk Pathogenic —
RS2517618157 SYNJ1 Health Risk Likely pathogenic —
RS2517619244 SYNJ1 Health Risk Pathogenic/Likely pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2517621673 MORC2 Health Risk Likely pathogenic Developmental delay, impaired growth
RS2517621695 CHCHD10 Health Risk Conflicting classifications of pathogenicity Autosomal dominant mitochondrial myopathy with exercise intolerance, Lower motor neuron syndrome with late-adult onset
RS2517622850 MYO18B Health Risk Pathogenic —
RS2517627198 COL18A1 Health Risk Pathogenic —
RS2517639832 PRPF6 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2517649919 MYO18B Health Risk Pathogenic —
RS2517652434 SMARCB1 Health Risk Likely pathogenic SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis
RS2517652550 MYO18B Health Risk Pathogenic —
RS2517652605 SMARCB1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517653620 CDC45 Health Risk Pathogenic —
RS2517655700 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2517655719 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2517658835 CDC45 Health Risk Pathogenic —
RS2517660427 SMARCB1 Health Risk Pathogenic —
RS2517660810 SMARCB1 Health Risk Pathogenic Developmental disorder, Hereditary cancer-predisposing syndrome
RS2517661534 COL18A1 Health Risk Pathogenic —
RS2517662048 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS2517662992 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517663296 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517663308 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517663841 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517663914 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517664271 MYO18B Health Risk Pathogenic —
RS2517664783 SMARCB1 Health Risk Pathogenic SMARCB1-related schwannomatosis, SMARCB1-related schwannomatosis
RS2517666052 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517666120 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517666229 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517666301 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517670720 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517670730 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517670734 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517670768 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517670770 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517670893 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517671009 COL18A1 Health Risk Pathogenic —
RS2517673366 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517673461 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2517673510 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS2517673596 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517675398 MYO18B Health Risk Pathogenic —
RS2517676428 COL18A1 Health Risk Likely pathogenic —
RS2517676690 CDC45 Health Risk Pathogenic —
RS2517677261 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS2517679712 SMARCB1 Health Risk Pathogenic —
RS2517679862 SMARCB1 Health Risk Pathogenic —
RS2517683028 COL18A1 Health Risk Likely pathogenic —
RS2517683432 COL18A1 Health Risk Pathogenic —
RS2517684135 SMARCB1 Health Risk Pathogenic —
RS2517684307 SMARCB1 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 1, Rhabdoid tumor predisposition syndrome 1
RS2517684309 KREMEN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2517690574 COL18A1 Health Risk Likely pathogenic —
RS2517690624 COL18A1 Health Risk Pathogenic —
RS2517693412 KCTD17 Health Risk Pathogenic Myoclonic dystonia 26, Myoclonic dystonia 26
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