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
RS1554334872 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554334886 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554334894 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 2
RS1554334905 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1554335093 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1554335109 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335111 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1554335128 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335132 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1554335135 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335141 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335164 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 2
RS1554335391 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554335400 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335417 GCK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Maturity-onset diabetes of the young
RS1554335418 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335421 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554335441 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554335444 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335461 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS1554335482 CDK13 Health Risk Likely pathogenic —
RS1554335512 CDK13 Health Risk Pathogenic Inborn genetic diseases, Syndromic intellectual disability
RS1554335560 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335564 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554335566 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554335567 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335570 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS1554335573 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1554335585 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335596 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335598 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335616 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554335741 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1554335751 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS1554335752 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554335758 GCK Health Risk Uncertain risk allele Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554335761 GCK Health Risk Likely pathogenic —
RS1554335913 GCK Health Risk Pathogenic —
RS1554335926 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1554335937 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1554335954 GCK Health Risk Likely risk allele Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1554335966 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1554336974 SAMD9 Health Risk Pathogenic/Likely pathogenic MIRAGE syndrome, MIRAGE syndrome
RS1554336981 SAMD9 Health Risk Pathogenic Inborn genetic diseases, MIRAGE syndrome
RS1554337067 SAMD9 Health Risk Conflicting classifications of pathogenicity SAMD9-related disorder, SAMD9-related disorder
RS1554337369 GARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1554337424 SAMD9 Health Risk Likely pathogenic Normophosphatemic familial tumoral calcinosis, Normophosphatemic familial tumoral calcinosis
RS1554337974 GARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1554338016 AHI1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1554338260 GARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1554338262 GARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Spinal muscular atrophy
RS1554338264 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1554338272 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1554338641 GARS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1554340243 RMND1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554341061 SBDS Health Risk Likely pathogenic —
RS1554341158 SAMD9L Health Risk Conflicting classifications of pathogenicity Ataxia-pancytopenia syndrome, Monosomy 7 myelodysplasia and leukemia syndrome 1
RS1554341277 SAMD9L Health Risk Pathogenic Ataxia-pancytopenia syndrome, Ataxia-pancytopenia syndrome
RS1554341671 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia 49
RS1554343985 SGCE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Myoclonic dystonia 11
RS1554345052 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554345077 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554345124 SGCE Health Risk Pathogenic —
RS1554345162 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554345170 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554345179 SGCE Health Risk Likely pathogenic —
RS1554345208 SGCE Health Risk Likely pathogenic —
RS1554347012 AHI1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1554350366 EGFR Health Risk Likely pathogenic Non-small cell lung carcinoma, Non-small cell lung carcinoma
RS1554350382 EGFR Health Risk Likely pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS1554350503 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1554350554 ASNS Health Risk Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1554350586 ASNS Health Risk Likely pathogenic —
RS1554352234 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1554352240 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1554352676 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1554352718 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1554352819 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554352906 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554352952 SGCE Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554353106 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554353948 SLC25A13 Health Risk Likely pathogenic —
RS1554354787 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1554354801 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1554355011 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1554355416 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554357206 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1554357231 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1554358639 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554358720 SLC26A4 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive
RS1554358727 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1554359569 CFAP69 Health Risk Pathogenic Spermatogenic failure 24, Spermatogenic failure 24
RS1554359670 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1554359685 CFAP69 Health Risk Pathogenic Spermatogenic failure 24, Spermatogenic failure 24
RS1554359693 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1554360358 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1554360678 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1554360707 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1554360816 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1554360841 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
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