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
RS35103459 HBG2 Health Risk Pathogenic Cyanosis, transient neonatal
RS35107951 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS35110529 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS35111108 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS35116188 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS35117167 HBB Health Risk Pathogenic HEMOGLOBIN RAINIER, Erythrocytosis
RS35118109 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS35121792 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS35122256 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS35128702 IGFALS Health Risk Conflicting classifications of pathogenicity Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases
RS35128811 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS35129409 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS35129734 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS35130237 SGCA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Sarcoglycanopathy
RS35132058 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS35133315 HBB Health Risk Pathogenic beta Thalassemia, Hemoglobinopathy
RS35134774 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35135063 IRAG1 Health Risk Conflicting classifications of pathogenicity —
RS35135520 TIMM50 Health Risk Pathogenic Mitochondrial encephalopathy, 3-methylglutaconic aciduria type 9
RS35138315 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS35140429 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder
RS35141355 CFAP418 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 16
RS35142632 RIN2 Health Risk Conflicting classifications of pathogenicity —
RS35143882 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS35144639 HAL Health Risk Conflicting classifications of pathogenicity Histidinemia, Histidinemia
RS35151472 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS35152573 KIRREL3 Health Risk Conflicting classifications of pathogenicity —
RS35152987 HBD Health Risk Conflicting classifications of pathogenicity delta Thalassemia, HEMOGLOBIN A(2) YIALOUSA
RS35155575 PAX4 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, ketosis-prone
RS35156360 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS35157799 DUOX2;DUOXA2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS35159176 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS35163653 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS35164771 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS35165357 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS35171933 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS35173587 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS35175081 MSR1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS35176378 MYH11 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Aortic aneurysm
RS35184530 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS351855 FGFR4 Health Risk Conflicting classifications of pathogenicity Cancer progression and tumor cell motility, See cases
RS35186791 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS35187177 SGK2 Health Risk Likely pathogenic Colorectal cancer, Colorectal cancer
RS35189056 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS35189619 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS35190376 SYT10 Health Risk Conflicting classifications of pathogenicity —
RS35192504 CNOT2 Health Risk Conflicting classifications of pathogenicity —
RS35193202 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS35193230 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS35194393 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS35201073 PARS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 75
RS35201683 HFE Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 1
RS35203200 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS35204299 SLC36A1 Health Risk Conflicting classifications of pathogenicity —
RS35209591 HBB Health Risk Pathogenic; other HEMOGLOBIN POTOMAC, Erythrocytosis
RS35214083 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS35219594 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS35219874 RNF43 Health Risk Conflicting classifications of pathogenicity RNF43-related disorder, Hyperplastic polyposis syndrome
RS35222761 NRAP Health Risk Conflicting classifications of pathogenicity NRAP-related disorder, Cardiovascular phenotype
RS35222922 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder
RS35224686 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS35225141 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS35225190 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS35225938 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS35229491 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS35232579 PLK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35233375 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, See cases
RS35234349 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 1, Inborn genetic diseases
RS35237014 MAG Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 75, MAG-related disorder
RS35238397 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Inborn genetic diseases
RS35238405 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis
RS35238500 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS35239216 PNPT1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 70, Autosomal recessive nonsyndromic hearing loss 70
RS35239527 HBA1 Health Risk Pathogenic; other HEMOGLOBIN LOIRE, Erythrocytosis
RS35240460 PYCR2 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS35240811 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS35245209 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS35249554 POC1A Health Risk Conflicting classifications of pathogenicity —
RS35252762 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS35252978 MYO18B Health Risk Conflicting classifications of pathogenicity Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS35256065 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS35256489 HBB Health Risk Pathogenic HEMOGLOBIN SHOWA-YAKUSHIJI, BETA-PLUS-THALASSEMIA
RS35256655 GPD1 Health Risk Conflicting classifications of pathogenicity Melanoma, Malignant tumor of urinary bladder
RS35258467 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS35258567 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-related disorder
RS35258749 CLCNKB Health Risk Conflicting classifications of pathogenicity Bartter disease type 3, Bartter disease type 4B
RS35262412 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN G (TEXAS), HEMOGLOBIN G (GALVESTON)
RS35262978 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS35263902 NDUFA9 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 26
RS35264875 TPCN2 Health Risk association SKIN/HAIR/EYE PIGMENTATION, VARIATION IN
RS35267264 WASHC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, WASHC4-related disorder
RS35269064 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS35269563 AGK Health Risk Conflicting classifications of pathogenicity Sengers syndrome, Cataract 38
RS35281104 HSD17B4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bifunctional peroxisomal enzyme deficiency
RS35282525 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS35282988 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS35284335 DNAL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Primary ciliary dyskinesia 16
RS35284565 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS35285441 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS35287646 TCN1 Health Risk Conflicting classifications of pathogenicity Transcobalamin I deficiency, Transcobalamin I deficiency
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