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
RS2476585049 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476585170 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476589439 NFKB1 Health Risk Pathogenic —
RS2476589597 NFKB1 Health Risk Pathogenic —
RS2476590806 NFKB1 Health Risk Pathogenic —
RS2476592492 FRAS1 Health Risk Pathogenic —
RS2476607124 NFKB1 Health Risk Pathogenic —
RS2476607527 NFKB1 Health Risk Pathogenic —
RS2476623170 TET2 Health Risk Pathogenic —
RS2476623405 TET2 Health Risk Likely pathogenic —
RS2476623472 TET2 Health Risk Pathogenic —
RS2476633187 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476633959 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476638607 TET2 Health Risk Pathogenic —
RS2476649405 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476650016 PITX2 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face
RS2476650692 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476650732 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476651963 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476656556 PITX2 Health Risk Likely pathogenic —
RS2476656626 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476657038 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476657179 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
RS2476657335 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476657637 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
RS2476658099 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476658147 PITX2 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476658161 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476658214 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS2476675975 PPM1K Health Risk Pathogenic Maple syrup urine disease, mild variant
RS2476695032 TET2 Health Risk Pathogenic —
RS2476717919 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476720848 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476721130 TET2 Health Risk Pathogenic —
RS2476721217 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476721403 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476721416 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476721458 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476721592 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476721648 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476721663 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476721678 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476721748 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476721955 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476722357 TET2 Health Risk Pathogenic —
RS2476723585 TET2 Health Risk Pathogenic —
RS2476724648 TET2 Health Risk Pathogenic —
RS2476726335 TET2 Health Risk Pathogenic —
RS2476731972 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476732154 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476732191 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476732226 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476732632 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476732949 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476733074 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476733094 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476733100 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476734756 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476734760 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476735533 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476735540 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS2476735862 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476735985 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476735987 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476736046 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476736065 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476741089 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476741210 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476741382 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476741563 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476741684 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476741877 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476741902 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2476746244 FRAS1 Health Risk Pathogenic —
RS2476750584 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2476757946 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476758160 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476761119 EXOSC9 Health Risk Pathogenic —
RS2476761256 EXOSC9 Health Risk Pathogenic —
RS2476761978 FRAS1 Health Risk Pathogenic —
RS2476765770 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476765995 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476766159 MANBA Health Risk Pathogenic —
RS2476767867 FRAS1 Health Risk Pathogenic —
RS2476773637 EXOSC9 Health Risk Pathogenic —
RS2476774436 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476774466 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476774517 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476779375 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476782303 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476782313 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476786433 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476797711 FRAS1 Health Risk Pathogenic —
RS2476797839 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2476801673 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476801952 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476802503 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476802894 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476803278 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476804031 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
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