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
RS2476804042 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476805306 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476807378 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476807479 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476807498 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
RS2476807656 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476807665 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476809264 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
RS2476819449 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
RS2476829947 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2476841436 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476845907 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476846152 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476846231 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476847103 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2476855886 FRAS1 Health Risk Pathogenic —
RS2476855991 FRAS1 Health Risk Pathogenic —
RS2476857633 FRAS1 Health Risk Pathogenic —
RS2476858091 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476862111 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2476862496 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476862731 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476867333 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476867533 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476870839 AGA Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2476870897 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476875909 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476876691 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2476884261 FRAS1 Health Risk Pathogenic —
RS2476886466 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476887072 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476887316 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2476897618 FRAS1 Health Risk Pathogenic —
RS2476898160 FRAS1 Health Risk Pathogenic —
RS2476899075 COL4A4 Health Risk Pathogenic —
RS2476899667 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2476902451 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2476903185 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2476904924 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476905568 KLKB1 Health Risk Pathogenic Inherited prekallikrein deficiency, Inherited prekallikrein deficiency
RS2476908784 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476909407 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476918631 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2476919187 MANBA Health Risk Likely pathogenic MANBA-related disorder, Beta-D-mannosidosis
RS2476930946 FRAS1 Health Risk Pathogenic —
RS2476932079 FRAS1 Health Risk Pathogenic —
RS2476948265 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2476948907 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2476952905 CYP2U1 Health Risk Pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS2476963629 FRAS1 Health Risk Pathogenic —
RS2476965820 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Ovarian serous cystadenocarcinoma
RS2477000006 TBCK Health Risk Pathogenic Hypotonia, infantile
RS2477001736 TBCK Health Risk Likely pathogenic —
RS2477019094 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS2477021453 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS2477022028 CYP2U1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2477022034 FRAS1 Health Risk Pathogenic —
RS2477022232 FRAS1 Health Risk Pathogenic —
RS2477023952 CYP2U1 Health Risk Pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS2477024261 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS2477025279 CYP2U1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2477033725 CYP2U1 Health Risk Pathogenic —
RS2477036536 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS2477039677 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2477040195 KLKB1 Health Risk Likely pathogenic Inherited prekallikrein deficiency, Inherited prekallikrein deficiency
RS2477042297 KLKB1 Health Risk Likely pathogenic KLKB1-related disorder, KLKB1-related disorder
RS2477043490 CYP2U1 Health Risk Likely pathogenic —
RS2477049390 CYP2U1 Health Risk Conflicting classifications of pathogenicity CYP2U1-related disorder, CYP2U1-related disorder
RS2477052695 FRAS1 Health Risk Pathogenic —
RS2477057679 PRDM5 Health Risk Pathogenic —
RS2477060004 CLCN3 Health Risk Likely pathogenic —
RS2477068133 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2477083128 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2477083166 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2477088364 BRCA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2477098867 FRAS1 Health Risk Pathogenic —
RS2477113430 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2477120199 CLCN3 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental disorder with hypotonia and brain abnormalities
RS2477132619 COL25A1 Health Risk Pathogenic —
RS2477134410 PPA2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2477137510 HADH Health Risk Pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2477138010 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2477142367 FRAS1 Health Risk Pathogenic —
RS2477143504 FRAS1 Health Risk Likely pathogenic —
RS2477147529 PRDM5 Health Risk Likely pathogenic —
RS2477147706 F11 Health Risk Pathogenic —
RS2477149062 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS2477149824 FRAS1 Health Risk Likely pathogenic —
RS2477154326 PRDM5 Health Risk Pathogenic —
RS2477159465 FRAS1 Health Risk Pathogenic —
RS2477162429 COL4A4 Health Risk Pathogenic —
RS2477162674 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2477166095 SLC25A4 Health Risk Pathogenic —
RS2477168490 SLC25A4 Health Risk Pathogenic —
RS2477172867 NAF1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related
RS2477182856 FRAS1 Health Risk Likely pathogenic —
RS2477192770 FLNB Health Risk Pathogenic —
RS2477194446 FRAS1 Health Risk Pathogenic —
RS2477194940 FLNB Health Risk Likely pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS2477195648 FLNB Health Risk Likely pathogenic —
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