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
RS1562651617 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1562653663 PEX3 Health Risk Pathogenic —
RS1562654527 PEX3 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger)
RS1562654984 PEX3 Health Risk Pathogenic —
RS1562656759 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1562656975 GLI3 Health Risk Likely pathogenic GLI3-related disorder, GLI3-related disorder
RS1562657370 GLI3 Health Risk Likely pathogenic —
RS1562657560 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1562658303 GLI3 Health Risk Likely pathogenic —
RS1562659544 SKIC2 Health Risk Pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS1562660214 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1562664845 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1562664890 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1562664935 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1562667078 GLI3 Health Risk Conflicting classifications of pathogenicity 8 conditions, Greig cephalopolysyndactyly syndrome
RS1562668233 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1562669585 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1562671039 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1562677687 PMS2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1562677770 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1562678257 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1562678869 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1562684798 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1562685713 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4
RS1562686929 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1562687295 GSDME Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS1562687726 GSDME Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS1562688519 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1562689635 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1562690271 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1562690527 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS1562691736 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Situs inversus
RS1562695294 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1562700083 HOXA1 Health Risk Pathogenic Bosley-Salih-Alorainy syndrome, Bosley-Salih-Alorainy syndrome
RS1562711587 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1562711915 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1562713041 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1562715296 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1562715426 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 2
RS1562715574 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1562715620 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1562715657 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1562717053 GCK Health Risk Pathogenic Permanent neonatal diabetes mellitus 1, Maturity-onset diabetes of the young type 2
RS1562717232 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1562718043 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1562718649 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome, Baraitser-Winter syndrome 1
RS1562718846 ACTB Health Risk Likely pathogenic —
RS1562719029 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1562719316 ACTB Health Risk Likely pathogenic —
RS1562719705 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS1562719786 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1562719872 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1562720119 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Intellectual disability
RS1562722163 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1562737230 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1562742141 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1562747728 AUTS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1562753388 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1562767666 CDK13 Health Risk Pathogenic/Likely pathogenic —
RS1562774655 SLC25A13 Health Risk Pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS1562774778 SLC25A13 Health Risk Pathogenic —
RS1562775040 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1562782355 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1562782419 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS1562787582 ESR1 Health Risk risk factor Estrogen resistance syndrome, Estrogen resistance syndrome
RS1562789302 SAMD9L Health Risk Conflicting classifications of pathogenicity Ataxia-pancytopenia syndrome, Spinocerebellar ataxia 49
RS1562795586 SAMD9L Health Risk Likely pathogenic —
RS1562800908 RMND1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 11, Abnormality of the nervous system
RS1562805960 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1562806242 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1562806273 SGCE Health Risk Pathogenic —
RS1562811414 SGCE Health Risk Pathogenic/Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1562811734 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS1562811980 SGCE Health Risk Pathogenic —
RS1562812136 SGCE Health Risk Pathogenic —
RS1562812370 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1562817048 ASNS Health Risk Pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1562817224 SLC26A4 Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1562817529 SLC26A4 Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1562818383 PUS7 Health Risk Pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS1562818685 SLC26A4 Health Risk Pathogenic —
RS1562822565 SLC26A4 Health Risk Pathogenic Deafness, Hearing loss
RS1562822698 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1562823061 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia, type II
RS1562823624 ASNS Health Risk Pathogenic —
RS1562831563 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrullinemia, type II
RS1562831765 SLC25A13 Health Risk Pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency
RS1562831788 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS1562835391 SLC26A4 Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1562835480 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1562835515 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1562837305 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS1562837561 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS1562837669 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS1562838535 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS1562839439 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS1562840744 FKBP14 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS1562842409 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1562842708 PEX1 Health Risk Likely pathogenic Heimler syndrome 1, Peroxisome biogenesis disorder 1B
RS1562844289 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
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