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
RS2134611028 COL17A1 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS2134611494 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2134611976 PDE6C Health Risk Likely pathogenic Abnormality of the eye, Abnormality of the eye
RS2134612747 COL17A1 Health Risk Pathogenic —
RS2134613305 PAX6 Health Risk Pathogenic —
RS2134617509 PDE6C Health Risk Pathogenic —
RS2134623972 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2134626266 SLC37A4 Health Risk Pathogenic/Likely pathogenic Congenital disorder of glycosylation, type IIw
RS2134626765 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134628172 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134631019 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS2134631242 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134631556 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134631619 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134633522 DCHS1 Health Risk Pathogenic —
RS2134633746 DCHS1 Health Risk Pathogenic Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS2134633831 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134633858 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134633880 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134634960 DCHS1 Health Risk Pathogenic Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS2134635160 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134637643 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134638421 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134639714 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134640168 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134643885 DCHS1 Health Risk Pathogenic —
RS2134644045 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134644472 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2134654635 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2134655291 EBF3 Health Risk Pathogenic —
RS2134655427 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2134656843 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2134657107 PAX6 Health Risk Likely pathogenic See cases, See cases
RS2134658539 EBF3 Health Risk Pathogenic See cases, See cases
RS2134659091 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS2134659487 EBF3 Health Risk Pathogenic/Likely pathogenic Hypotonia, ataxia
RS2134659512 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2134662046 EBF3 Health Risk Pathogenic —
RS2134667452 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2134678958 NHLRC2 Health Risk Conflicting classifications of pathogenicity Fibrosis, neurodegeneration
RS2134689565 BSCL2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2134690008 BSCL2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2134691627 PEX16 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2134692559 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2134692847 PEX16 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2134693013 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2134694006 PEX16 Health Risk Likely pathogenic —
RS2134694075 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2134695130 BSCL2;HNRNPUL2-BSCL2 Health Risk Likely pathogenic Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2
RS2134695257 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder
RS2134695309 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2134698831 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS2134699162 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2134699707 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2134706153 NKX6-2 Health Risk Likely pathogenic Spastic ataxia 8, autosomal recessive
RS2134706311 NKX6-2 Health Risk Pathogenic Spastic ataxia 8, autosomal recessive
RS2134706418 NKX6-2 Health Risk Pathogenic Spastic ataxia 8, autosomal recessive
RS2134706667 NHLRC2 Health Risk Pathogenic Fibrosis, neurodegeneration
RS2134707034 NKX6-2 Health Risk Pathogenic —
RS2134707158 NKX6-2 Health Risk Pathogenic Spastic ataxia 8, autosomal recessive
RS2134714165 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS2134714388 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2134724901 SMC3 Health Risk Pathogenic —
RS2134734280 MPZL2 Health Risk Likely pathogenic Hearing loss, autosomal recessive 111
RS2134735270 VPS11 Health Risk Pathogenic Dystonia 32, Dystonia 32
RS2134735614 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2134735819 PACS1 Health Risk Pathogenic Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS2134740210 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2134745289 SMC3 Health Risk Likely pathogenic See cases, See cases
RS2134745322 SMC3 Health Risk Pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2134747667 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS2134748638 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS2134750930 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2134754195 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS2134761257 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134765690 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS2134766485 VPS11 Health Risk Pathogenic Hypomyelinating leukodystrophy 12, Hypomyelinating leukodystrophy 12
RS2134768525 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134768688 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134768866 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134770866 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2134771570 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS2134771631 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2134772571 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134773243 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134773913 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2134775125 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Cenani-Lenz syndactyly syndrome
RS2134780429 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS2134780623 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134783712 KLC2 Health Risk Pathogenic See cases, See cases
RS2134784600 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS2134791556 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134791667 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134791703 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134791752 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134792820 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2134797289 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2134797745 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2134797993 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2134823550 SORL1 Health Risk Pathogenic —
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