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
RS1894614852 RAB27A Health Risk Likely pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS1894637828 UBR7 Health Risk Conflicting classifications of pathogenicity Li-Campeau syndrome, Li-Campeau syndrome
RS189472793 NPHP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome with renal defect, Nephronophthisis 1
RS189476639 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS189476787 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1894770954 CEP152 Health Risk Pathogenic —
RS189483688 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1894865880 UBR7 Health Risk Pathogenic Li-Campeau syndrome, Li-Campeau syndrome
RS1895001312 SIX1 Health Risk Likely pathogenic Branchiootic syndrome 3, Branchiootic syndrome 3
RS1895003578 SIX1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 23, Autosomal dominant nonsyndromic hearing loss 23
RS189500765 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1895013419 SIX1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
RS189501562 TNFSF11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
RS1895020933 NEK9 Health Risk Likely pathogenic —
RS189506473 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS1895105626 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS1895110802 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS189516672 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Gastric cancer
RS189522993 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS189525930 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1895259806 IFT81 Health Risk Pathogenic —
RS1895277023 CEP152 Health Risk Pathogenic —
RS189533535 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1895344007 CEP152 Health Risk Pathogenic —
RS1895345135 CEP152 Health Risk Likely pathogenic CEP152-related disorder, CEP152-related disorder
RS189535205 MED12L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS189538616 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS189541265 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS189545025 SEC61A1 Health Risk Conflicting classifications of pathogenicity SEC61A1-related disorder, SEC61A1-related disorder
RS189549129 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS189550119 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1895530875 RAD51 Health Risk Pathogenic Fanconi anemia complementation group R, Fanconi anemia complementation group R
RS1895534883 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS189553632 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS189554230 SYCE2 Health Risk Conflicting classifications of pathogenicity —
RS189556251 CRX Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 7
RS189556433 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Senior-Loken syndrome 6
RS189557655 COL1A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Osteogenesis imperfecta type I
RS189559257 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1895598333 NIPA1 Health Risk Pathogenic Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
RS189560910 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS189561105 PCLO Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 3, Inborn genetic diseases
RS1895612617 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS189561302 LOXHD1 Health Risk Pathogenic —
RS1895617043 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1895621783 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1895622909 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1895627520 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS189564026 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1895641246 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1895641581 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS189565793 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1895677481 SPRED1 Health Risk Pathogenic Legius syndrome, See cases
RS1895690125 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS1895691198 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS189569144 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1895692863 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1895693953 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1895696380 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Inborn genetic diseases
RS1895697384 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS189571036 EHHADH Health Risk Conflicting classifications of pathogenicity —
RS189574905 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS1895769400 COCH Health Risk Pathogenic Hearing loss, autosomal recessive 110
RS1895773215 COCH Health Risk Likely pathogenic Hearing loss, autosomal recessive 110
RS1895778737 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS189582508 CNNM2 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS1895894261 RPS26 Health Risk Likely pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia
RS1895903499 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS1895911610 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS1895912791 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS1895918140 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS1895931425 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1895946786 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS189595832 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1895965271 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1895977771 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1895978539 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1895978967 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Ovarian cancer
RS1895983324 RAB27A Health Risk Likely pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS189601972 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1896091563 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1896092339 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS189609282 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS189611501 PLN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
RS189612722 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, FRAS1-related disorder
RS1896146578 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS189616103 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS189617624 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1896185846 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS1896186645 RAB27A Health Risk Likely pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS1896235438 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS189623561 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS189623590 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS189623595 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS1896237929 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS189626540 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS189631769 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS1896318374 PTPRQ Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84A, Monogenic hearing loss
RS189638090 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS189640632 CHRDL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Colon adenocarcinoma
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