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
RS1564509503 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1564515829 KAT6B Health Risk Pathogenic —
RS1564516087 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS1564516701 CUBN Health Risk Pathogenic —
RS1564524282 TMC1 Health Risk Likely pathogenic —
RS1564526396 ODAD2 Health Risk Likely pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS1564532120 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS1564532377 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS1564537266 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1564538809 PCDH15 Health Risk Pathogenic —
RS1564540455 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1564540693 PCDH15 Health Risk Pathogenic —
RS1564544199 MYO3A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1564544348 MYO3A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1564545929 DOLK Health Risk Pathogenic DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation
RS1564546510 DOLK Health Risk Pathogenic DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation
RS1564554148 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS1564554255 TMC1 Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1564555089 SYNE1 Health Risk Likely pathogenic —
RS1564555185 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS1564555240 TMC1 Health Risk Pathogenic Deafness, Hearing loss
RS1564556995 TMC1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 7, Hearing loss
RS1564557037 HK1 Health Risk Likely pathogenic Neurodevelopmental disorder with visual defects and brain anomalies, Neurodevelopmental abnormality
RS1564564688 GSN Health Risk Pathogenic Finnish type amyloidosis, Finnish type amyloidosis
RS1564566706 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1564566774 PTEN Health Risk Pathogenic Thyroid cancer, nonmedullary
RS1564566801 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1564566861 PTEN Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1564566998 PTEN Health Risk Likely pathogenic PTEN-related disorder, Hereditary cancer-predisposing syndrome
RS1564568216 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1564568265 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1564568303 PTEN Health Risk Likely pathogenic Macrocephaly-autism syndrome, Macrocephaly-autism syndrome
RS1564568350 PTEN Health Risk Pathogenic/Likely pathogenic Global developmental delay, Cowden syndrome 1
RS1564568473 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1564568546 SLC16A12 Health Risk Likely pathogenic —
RS1564568660 PTEN Health Risk Pathogenic Endometrial carcinoma, Cowden syndrome 1
RS1564568689 PTEN Health Risk Likely pathogenic Cowden syndrome, Cowden syndrome
RS1564568719 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1564568849 MYO3A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1564570283 PTEN Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1564573788 MYO3A Health Risk Pathogenic Nonsyndromic genetic hearing loss, nonsyndromic sensorineural hearing loss
RS1564574359 ACBD5 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1564576117 LRMDA Health Risk Pathogenic —
RS1564576546 COL27A1 Health Risk Pathogenic/Likely pathogenic Steel syndrome, Steel syndrome
RS1564578862 COL27A1 Health Risk Pathogenic —
RS1564583413 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS1564591135 ZMIZ1 Health Risk Likely pathogenic —
RS1564596167 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1564602202 MYO3A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1564606246 KAT6B Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1564612961 POLR3A Health Risk Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome
RS1564613755 POLR3A Health Risk Pathogenic/Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS1564617848 POLR3A Health Risk Pathogenic/Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome
RS1564617866 POLR3A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 4, Hypomyelinating leukodystrophy 4
RS1564618717 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1564620047 POLR3A Health Risk Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome
RS1564622701 SGPL1 Health Risk Likely pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS1564623280 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS1564623882 POLR3A Health Risk Pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Neonatal pseudo-hydrocephalic progeroid syndrome
RS1564624254 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1564625942 KAT6B Health Risk Pathogenic —
RS1564626392 KAT6B Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1564628151 PDZD7 Health Risk Pathogenic —
RS1564628365 KAT6B Health Risk Pathogenic Genitopatellar syndrome, KAT6B-realted disoder
RS1564631871 DGAT1 Health Risk Pathogenic —
RS1564632292 KAT6B Health Risk Conflicting classifications of pathogenicity Developmental disorder, KAT6B-related multiple congenital anomalies syndrome
RS1564632652 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS1564634581 PDZD7 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1564639645 PCDH15 Health Risk Pathogenic —
RS1564641128 ACTA2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1564641485 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS1564645568 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1564645686 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS1564653469 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS1564653965 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS1564654588 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS1564657077 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1564657463 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS1564663863 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1564663888 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1564664312 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1564666557 CDHR1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy 15
RS1564667078 NODAL Health Risk Likely pathogenic Heterotaxy, visceral
RS1564667180 NODAL Health Risk Likely pathogenic Heterotaxy, visceral
RS1564667617 NODAL Health Risk Likely pathogenic Heterotaxy, visceral
RS1564667865 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1564673127 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS1564673185 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS1564673999 BMPR1A Health Risk Pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli
RS1564674618 ABCC2 Health Risk Pathogenic —
RS1564676479 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS1564677437 COL17A1 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 4
RS1564678441 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1564678996 FANCC Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1564679226 COL17A1 Health Risk Likely pathogenic —
RS1564684815 COL17A1 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS1564685400 COL17A1 Health Risk Pathogenic Epithelial recurrent erosion dystrophy, Amelogenesis imperfecta type 1A
RS1564686301 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1564687941 ABCC2 Health Risk Pathogenic ABCC2-related disorder, ABCC2-related disorder
RS1564688595 ABCC2 Health Risk Pathogenic —
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