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
RS121912534 LHCGR Health Risk Pathogenic Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
RS121912535 LHCGR Health Risk Pathogenic Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
RS121912536 LHCGR Health Risk Pathogenic Leydig cell agenesis, Leydig cell agenesis
RS121912537 LHCGR Health Risk Pathogenic Leydig cell agenesis, Leydig cell agenesis
RS121912538 LHCGR Health Risk Pathogenic Leydig cell agenesis, Leydig cell agenesis
RS121912539 LHCGR Health Risk Conflicting classifications of pathogenicity Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
RS121912540 LHCGR Health Risk Pathogenic Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
RS121912541 HOXD13 Health Risk Pathogenic Synpolydactyly type 1, Synpolydactyly type 1
RS121912542 HOXA13 Health Risk Pathogenic Hand-foot-genital syndrome, Hand-foot-genital syndrome
RS121912543 VSX2 Health Risk Pathogenic/Likely pathogenic Microphthalmia, cataracts
RS121912545 VSX2 Health Risk Pathogenic/Likely pathogenic Isolated microphthalmia 2, Microphthalmia
RS121912546 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS121912547 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS121912548 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS121912549 MNX1 Health Risk Pathogenic Currarino triad, Currarino triad
RS121912550 IMPDH1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 10, Retinal dystrophy
RS121912552 IMPDH1 Health Risk Likely pathogenic Retinitis pigmentosa 10, Retinal dystrophy
RS121912553 IMPDH1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 11, Retinal dystrophy
RS121912554 IMPDH1 Health Risk Pathogenic Leber congenital amaurosis 11, Leber congenital amaurosis 11
RS121912555 INSL3 Health Risk Pathogenic Cryptorchidism, Cryptorchidism
RS121912556 INSL3 Health Risk Conflicting classifications of pathogenicity Cryptorchidism, Cryptorchidism
RS121912557 MYO6 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22
RS121912558 MYO6 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37
RS121912559 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS121912560 MYO6 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
RS121912561 MYO6 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 22, Rare genetic deafness
RS121912562 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autism spectrum disorder
RS121912563 NR3C2 Health Risk Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912564 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912565 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912566 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912567 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912568 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912569 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2
RS121912570 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912571 NR3C2 Health Risk Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912572 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912573 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912574 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS121912575 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS121912576 SMAD4 Health Risk Pathogenic Carcinoma of pancreas, Carcinoma of pancreas
RS121912577 SMAD4 Health Risk Pathogenic Carcinoma of pancreas, Carcinoma of pancreas
RS121912578 SMAD4 Health Risk Pathogenic Carcinoma of pancreas, Carcinoma of pancreas
RS121912579 SMAD4 Health Risk Pathogenic Carcinoma of pancreas, Carcinoma of pancreas
RS121912580 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS121912581 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis syndrome
RS121912582 EPHB2 Health Risk Pathogenic Prostate cancer/brain cancer susceptibility, Prostate cancer/brain cancer susceptibility
RS121912583 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS121912584 SLC29A3 Health Risk Pathogenic H syndrome, Pigmentary skin disorders
RS121912585 KIF21A Health Risk Pathogenic Congenital fibrosis of extraocular muscles type 1, Fibrosis of extraocular muscles
RS121912586 KIF21A Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS121912587 KIF21A Health Risk Pathogenic Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1
RS121912588 KIF21A Health Risk Pathogenic Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1
RS121912589 KIF21A Health Risk Pathogenic Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1
RS121912590 KIF21A Health Risk Likely pathogenic Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases
RS121912591 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS121912592 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS121912593 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS121912595 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS121912596 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS121912597 SLC9A9 Health Risk risk factor Autism, susceptibility to
RS121912598 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS121912599 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome
RS121912600 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome
RS121912601 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS121912602 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS121912603 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS121912604 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS121912605 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS121912606 ARL13B Health Risk Pathogenic Joubert syndrome 8, Joubert syndrome 8
RS121912607 ARL13B Health Risk Pathogenic Joubert syndrome 8, Joubert syndrome 8
RS121912608 ARL13B Health Risk Pathogenic/Likely pathogenic Joubert syndrome 8, Joubert syndrome and related disorders
RS121912612 SI Health Risk Pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS121912613 SI Health Risk Pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS121912614 SI Health Risk Pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS121912615 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder
RS121912616 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Inborn genetic diseases
RS121912618 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1
RS121912619 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS121912620 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS121912621 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS121912622 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS121912623 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS121912624 TRPM6 Health Risk Pathogenic/Likely pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS121912625 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS121912626 CRELD1 Health Risk risk factor Atrioventricular septal defect, susceptibility to
RS121912627 CRELD1 Health Risk risk factor Atrioventricular septal defect, susceptibility to
RS121912628 RAD50 Health Risk Pathogenic Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome
RS121912629 RAD50 Health Risk Conflicting classifications of pathogenicity Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome
RS121912630 IRAK3 Health Risk risk factor Asthma-related traits, susceptibility to
RS121912631 NR2E3 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 37, Retinitis pigmentosa
RS121912632 TRPV4 Health Risk Pathogenic Brachyrachia (short spine dysplasia), Skeletal dysplasia
RS121912633 TRPV4 Health Risk Pathogenic/Likely pathogenic Brachyrachia (short spine dysplasia), Skeletal dysplasia
RS121912634 TRPV4 Health Risk Pathogenic Spondylometaphyseal dysplasia, Kozlowski type
RS121912635 TRPV4 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS121912636 TRPV4 Health Risk Pathogenic Metatropic dysplasia, Skeletal dysplasia
RS121912637 TRPV4 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Maroteaux type
RS121912638 NDUFS8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 2
RS121912639 NDUFS8 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 2
RS121912641 LHX4 Health Risk Pathogenic Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
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