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
RS1590262288 HPS6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS1590262450 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6
RS1590263662 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS1590263807 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS1590263820 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS1590266227 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1590266513 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia
RS1590275695 DENND5A Health Risk Likely pathogenic —
RS1590300702 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1590302115 CAT Health Risk Pathogenic Acatalasemia, japanese type
RS1590326226 WT1 Health Risk Pathogenic Frasier syndrome, Drash syndrome
RS1590331573 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1590332435 WT1 Health Risk Likely pathogenic Drash syndrome, Drash syndrome
RS1590338659 WT1 Health Risk Conflicting classifications of pathogenicity Male infertility with azoospermia or oligozoospermia due to single gene mutation, Inborn genetic diseases
RS1590405627 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Cockayne syndrome
RS1590406503 ERCC6 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Cockayne syndrome
RS1590409377 WT1 Health Risk Likely pathogenic Drash syndrome, Drash syndrome
RS1590410578 WT1 Health Risk Pathogenic Nephrotic syndrome, type 4
RS1590410967 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS1590411426 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Wilms tumor 1
RS1590413260 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1
RS1590414630 PGAP2 Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
RS1590416370 PGAP2 Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
RS1590463470 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1590474873 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1590492448 ERCC6 Health Risk Pathogenic —
RS1590540654 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group F
RS1590547374 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS1590548183 EXT2 Health Risk Pathogenic —
RS1590548336 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1590555709 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS1590556378 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1590556722 SMC3 Health Risk Pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1590563617 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1590570665 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1590570953 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1590571077 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1590572104 SMC3 Health Risk Likely pathogenic De Lange syndrome, De Lange syndrome
RS1590575116 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1590576560 CHAT Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4C, Familial infantile myasthenia
RS1590578831 TKFC Health Risk Likely pathogenic Triokinase and FMN cyclase deficiency syndrome, TKFC deficiency
RS1590594352 ZP1 Health Risk Likely pathogenic Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
RS1590594990 ZP1 Health Risk Pathogenic Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
RS1590612392 ANO3 Health Risk Pathogenic/Likely pathogenic Dystonic disorder, Dystonia 24
RS1590618771 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1590618958 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1590647371 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1590658782 ANO3 Health Risk Pathogenic/Likely pathogenic Dystonic disorder, Dystonia 24
RS1590667793 EXT2 Health Risk Likely pathogenic Seizures-scoliosis-macrocephaly syndrome, Exostoses
RS1590674994 CST6 Health Risk Pathogenic Ectodermal dysplasia 15, hypohidrotic/hair type
RS1590677685 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1590681805 RIMS1 Health Risk Likely pathogenic Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS1590688717 STIM1 Health Risk Pathogenic Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome
RS1590691343 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1590691724 ANK3 Health Risk Pathogenic Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS1590696621 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1590701881 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS1590702629 RAG1 Health Risk Pathogenic —
RS1590702729 RAG1 Health Risk Pathogenic —
RS1590702874 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1590703275 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS1590703740 RAG1 Health Risk Likely pathogenic —
RS1590713653 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1590715754 RAG2 Health Risk Pathogenic Common variable immunodeficiency, Common variable immunodeficiency
RS1590716645 RAG2 Health Risk Likely pathogenic —
RS1590729541 PHOX2A Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS1590735238 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1590735307 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1590738506 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1590738910 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1590739350 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS1590740858 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS1590743683 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS1590746439 BBIP1 Health Risk Pathogenic 10 conditions, 10 conditions
RS1590747902 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1590753221 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS1590753968 BBS1 Health Risk Pathogenic —
RS1590762360 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1590764751 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1590764849 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1590764868 SDHAF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1590764905 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1590765063 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1590765145 SDHAF2 Health Risk Likely pathogenic —
RS1590766771 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1590772920 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1590786345 CLPB Health Risk Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS1590789370 GANAB Health Risk Pathogenic POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE, POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE
RS1590793006 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8B
RS1590797444 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1590798080 PEX16 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1590803008 TCIRG1 Health Risk Likely pathogenic —
RS1590804397 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1590807544 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1590815040 VPS51 Health Risk Pathogenic Pontocerebellar hypoplasia, type 13
RS1590817956 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Osteopetrosis
RS1590819770 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1590819834 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1590820792 SYNE1 Health Risk Likely pathogenic —
RS1590821401 SERPING1 Health Risk Likely pathogenic Angioedema, Angioedema
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