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
RS1846929742 TSC1 Health Risk Pathogenic —
RS1846937833 LDB3 Health Risk Pathogenic Dilated cardiomyopathy 1C, Dilated cardiomyopathy 1C
RS1846942056 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS1846942383 LDB3 Health Risk Pathogenic Dilated cardiomyopathy 1C, Dilated cardiomyopathy 1C
RS184697035 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1846978970 CWF19L1 Health Risk Likely pathogenic —
RS1846980272 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS184700656 MSX1 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome
RS1847031671 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS184703595 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS184704952 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS1847078623 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS184708484 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS1847094674 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS184709736 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1847100683 SETX Health Risk Likely pathogenic Ataxia, early-onset
RS1847126002 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1847126581 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1847128695 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS184713215 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS184715593 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1847160690 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1847161579 BAG3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1847165958 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1847169064 BAG3 Health Risk Pathogenic —
RS1847174277 FGFR2 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1847180082 TNNI2 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS1847181948 TNNI2 Health Risk Likely pathogenic Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS1847186675 POLR3A Health Risk Likely pathogenic —
RS1847187823 GLE1 Health Risk Pathogenic —
RS1847193508 GLE1 Health Risk Likely pathogenic —
RS184719603 FBN1 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia, Stiff skin syndrome
RS1847196520 WDR11 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 14 with or without anosmia, Hypogonadotropic hypogonadism 14 with or without anosmia
RS1847218494 GLE1 Health Risk Pathogenic —
RS1847221082 GLE1 Health Risk Pathogenic —
RS1847222071 PNLIP Health Risk Likely pathogenic —
RS184722374 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS184722381 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS184723350 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1847236072 BAG3 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1847236575 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS184723737 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1847237761 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1847238300 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1847242923 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1847246944 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1847274393 GLE1 Health Risk Pathogenic —
RS1847288716 PNLIP Health Risk Pathogenic —
RS184730597 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS1847315177 PNLIP Health Risk Pathogenic —
RS1847324956 GLE1 Health Risk Pathogenic —
RS1847325791 GLE1 Health Risk Pathogenic —
RS184732617 GFM2 Health Risk Conflicting classifications of pathogenicity —
RS1847337857 GLE1 Health Risk Pathogenic —
RS1847342207 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS1847352468 POLR3A Health Risk Pathogenic —
RS184735364 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS1847364209 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS184739336 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, SOS2-related disorder
RS1847395828 POLR3A Health Risk Conflicting classifications of pathogenicity POLR3A-related disorder, POLR3A-related disorder
RS1847424990 POLR3A Health Risk Likely pathogenic —
RS1847443896 POLR3A Health Risk Pathogenic —
RS184745027 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS184745422 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS184746130 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Proteinuria
RS184748520 PCLO Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 3, PCLO-related disorder
RS1847510893 FGFR2 Health Risk Pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS1847513733 HBB Health Risk Pathogenic Beta-thalassemia major, Inborn genetic diseases
RS1847516043 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847517857 HBB Health Risk Pathogenic —
RS1847518799 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847520793 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847521496 HBB Health Risk Pathogenic —
RS1847523960 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847527770 HBB Health Risk Likely pathogenic —
RS1847534399 HBB Health Risk Conflicting classifications of pathogenicity —
RS1847534434 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847534694 HBB Health Risk Conflicting classifications of pathogenicity —
RS1847536038 HBB Health Risk Conflicting classifications of pathogenicity —
RS1847537515 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847537565 HBB Health Risk Conflicting classifications of pathogenicity —
RS184754468 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Malignant tumor of urinary bladder
RS1847551520 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847552371 HBB Health Risk Pathogenic —
RS1847552816 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847553344 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847553498 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847553585 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847553982 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847554171 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847554565 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847555115 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847556466 HBB Health Risk Likely pathogenic —
RS1847557333 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847557422 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847557540 HBB Health Risk Pathogenic/Likely pathogenic beta Thalassemia, beta Thalassemia
RS1847558511 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS184755865 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1847559573 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847560327 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
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