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
RS2483563364 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS2483565897 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8
RS2483587351 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483588824 AHI1 Health Risk Likely pathogenic Joubert syndrome 3, Joubert syndrome 3
RS2483588910 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483589449 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2483590050 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483591737 RARS2 Health Risk Pathogenic —
RS2483596451 RARS2 Health Risk Pathogenic —
RS2483598094 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483598377 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483604684 TNXB Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2483669672 CDK13 Health Risk Pathogenic —
RS2483670958 CDK13 Health Risk Conflicting classifications of pathogenicity CDK13-related disorder, CDK13-related disorder
RS2483675511 CDK13 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2483675974 CDK13 Health Risk Pathogenic —
RS2483692133 SFRP4 Health Risk Likely pathogenic —
RS2483700484 PDE10A Health Risk Likely pathogenic Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement
RS2483701960 TNXB Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2483708247 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2483753979 CDK13 Health Risk Likely pathogenic CDK13-related disorder, CDK13-related disorder
RS2483771537 CDK13 Health Risk Conflicting classifications of pathogenicity —
RS2483771746 CDK13 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2483772174 TNXB Health Risk Likely pathogenic Vesicoureteral reflux 8, Vesicoureteral reflux 8
RS2483776146 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS2483783437 CDK13 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2483876525 PKD1L1 Health Risk Pathogenic —
RS2483878852 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2483878861 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2483884719 PKD1L1 Health Risk Likely pathogenic Heterotaxy, visceral
RS2483930312 GRM1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 13, Autosomal recessive spinocerebellar ataxia 13
RS2483940673 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS2483942654 PKD1L1 Health Risk Likely pathogenic Heterotaxy, visceral
RS2483963312 PRKN Health Risk Pathogenic —
RS2483987048 CDK13 Health Risk Pathogenic Congenital heart defects, dysmorphic facial features
RS2484001104 GRM1 Health Risk Pathogenic Cerebellar ataxia, Cerebellar ataxia
RS2484006186 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2484009005 PKD1L1 Health Risk Likely pathogenic —
RS2484009393 PKD1L1 Health Risk Likely pathogenic —
RS2484020419 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484021103 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS2484023860 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2484024185 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2484026671 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484029614 CDK13 Health Risk Pathogenic —
RS2484034993 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS2484035743 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484036120 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484056741 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2484059424 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2484066893 CDK13 Health Risk Likely pathogenic —
RS2484097162 PKD1L1 Health Risk Likely pathogenic PKD1L1-related disorder, PKD1L1-related disorder
RS2484101705 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2484119129 SAR1B Health Risk Likely pathogenic Chylomicron retention disease, Chylomicron retention disease
RS2484133876 MPLKIP Health Risk Likely pathogenic Trichothiodystrophy 4, nonphotosensitive
RS2484134094 MPLKIP Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 4, nonphotosensitive
RS2484141220 MPLKIP Health Risk Pathogenic —
RS2484142427 MPLKIP Health Risk Pathogenic —
RS2484143490 SAR1B Health Risk Pathogenic —
RS2484163618 GRM1 Health Risk Likely pathogenic —
RS2484177690 GRIK2 Health Risk Likely pathogenic Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
RS2484185240 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484185872 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484186373 RARS2 Health Risk Pathogenic —
RS2484189983 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484190981 RARS2 Health Risk Pathogenic —
RS2484191788 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484202485 PCLO Health Risk Pathogenic —
RS2484204512 DNAAF5 Health Risk Pathogenic/Likely pathogenic DNAAF5-related disorder, Primary ciliary dyskinesia 18
RS2484210332 PGAM2 Health Risk Pathogenic Glycogen storage disease type X, Glycogen storage disease type X
RS2484210663 PGAM2 Health Risk Pathogenic Glycogen storage disease type X, Glycogen storage disease type X
RS2484210705 PGAM2 Health Risk Pathogenic Glycogen storage disease type X, Glycogen storage disease type X
RS2484266469 AK9 Health Risk Pathogenic Spermatogenic failure 89, Spermatogenic failure 89
RS2484269420 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484272408 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2484304425 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2484305794 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS2484306377 RARS2 Health Risk Pathogenic —
RS2484309410 RARS2 Health Risk Pathogenic —
RS2484309526 RARS2 Health Risk Likely pathogenic —
RS2484309736 RARS2 Health Risk Likely pathogenic —
RS2484324739 PLG Health Risk Likely pathogenic —
RS2484341342 AEBP1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic-like
RS2484351488 AEBP1 Health Risk Pathogenic —
RS2484355096 AEBP1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic-like
RS2484356584 AEBP1 Health Risk Pathogenic —
RS2484356955 AEBP1 Health Risk Pathogenic —
RS2484357529 AEBP1 Health Risk Likely pathogenic —
RS2484359175 AEBP1 Health Risk Pathogenic —
RS2484360667 AEBP1 Health Risk Pathogenic —
RS2484361638 GLI3 Health Risk Likely pathogenic GLI3-related disorder, GLI3-related disorder
RS2484361735 AEBP1 Health Risk Pathogenic —
RS2484363262 GLI3 Health Risk Likely pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS2484364138 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2484364434 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS2484364568 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS2484365220 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS2484366559 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS2484367143 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2484367171 GLI3 Health Risk Pathogenic/Likely pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
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