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
RS2136132894 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136134076 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136136946 IPO8 Health Risk Likely pathogenic IPO8 related Connective tissue disorder, VISS syndrome
RS2136138396 MDM2 Health Risk Conflicting classifications of pathogenicity Accelerated tumor formation, susceptibility to
RS2136138688 RDH5 Health Risk Pathogenic —
RS2136139535 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2136139920 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136141104 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136141530 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136142116 RDH5 Health Risk Pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS2136142315 RDH5 Health Risk Pathogenic —
RS2136142487 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136143369 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS2136144177 IPO8 Health Risk Likely pathogenic VISS syndrome, VISS syndrome
RS2136148225 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136148702 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136148788 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136150891 IPO8 Health Risk Pathogenic IPO8 related Connective tissue disorder, IPO8 related Connective tissue disorder
RS2136151586 PEX5 Health Risk Pathogenic/Likely pathogenic Abnormality of metabolism/homeostasis, Peroxisome biogenesis disorder 2B
RS2136151708 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136152576 IPO8 Health Risk Pathogenic IPO8-related aortopathy, VISS syndrome
RS2136153237 MAPKAPK5 Health Risk Pathogenic Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome
RS2136153753 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136154117 HPS1 Health Risk Pathogenic —
RS2136154163 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136154449 HPS1 Health Risk Likely pathogenic —
RS2136154587 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136154828 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2136156268 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136156603 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome with pulmonary fibrosis, Hermansky-Pudlak syndrome with pulmonary fibrosis
RS2136156789 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS2136158237 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136158689 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2136158725 ATP2B1 Health Risk Likely pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS2136158926 IPO8 Health Risk Pathogenic IPO8-related aortopathy, IPO8-related aortopathy
RS2136159431 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2136163112 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2136163711 IPO8 Health Risk Pathogenic IPO8-related aortopathy, IPO8-related aortopathy
RS2136163716 IPO8 Health Risk Pathogenic IPO8-related aortopathy, VISS syndrome
RS2136164671 MIP Health Risk Likely pathogenic —
RS2136164699 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136165507 IPO8 Health Risk Pathogenic IPO8 related Connective tissue disorder, IPO8 related Connective tissue disorder
RS2136166539 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136167830 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2136167939 ATM Health Risk Pathogenic —
RS2136169465 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136170176 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2136171586 TCTN1 Health Risk Pathogenic Joubert syndrome 13, Joubert syndrome
RS2136172776 TCTN1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2136176386 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2136176644 DENND5A Health Risk Pathogenic —
RS2136178004 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2136178143 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136181049 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136184555 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136186060 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136186754 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136187018 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136187161 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136188216 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136188431 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136189816 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136192267 ATP2B1 Health Risk Likely pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS2136192590 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136192612 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136192730 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136192749 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2136192884 HPS1 Health Risk Pathogenic —
RS2136193574 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136193860 ATP2B1 Health Risk Likely pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS2136194342 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2136194414 MEN1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2136195113 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136195903 TCTN1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2136197089 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2136197117 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2136198139 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS2136198351 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136198361 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136198918 GRIA4 Health Risk Likely pathogenic Neurodevelopmental disorder with or without seizures and gait abnormalities, See cases
RS2136199221 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136199270 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136199292 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136199436 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS2136199734 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS2136203174 CHD4 Health Risk Likely pathogenic —
RS2136203848 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136203888 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136205876 HPS1 Health Risk Likely pathogenic —
RS2136208238 TENM4 Health Risk Pathogenic Tremor, hereditary essential
RS2136208377 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS2136209158 CHD4 Health Risk Pathogenic/Likely pathogenic Sifrim-Hitz-Weiss syndrome, Inborn genetic diseases
RS2136209181 CHD4 Health Risk Pathogenic/Likely pathogenic —
RS2136209186 CHD4 Health Risk Pathogenic/Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS2136209729 CHD4 Health Risk Pathogenic —
RS2136211819 ST14 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11
RS2136211948 SYT1 Health Risk Likely pathogenic —
RS2136212739 HPS1 Health Risk Pathogenic —
RS2136213384 CHD4 Health Risk Pathogenic/Likely pathogenic CHD4-related disorder, CHD4-related disorder
RS2136213423 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
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