| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| ANKH-related disorder |
Likely pathogenic; Pathogenic |
rs121908410 |
RCV004734498 |
| Chondrocalcinosis 2 |
Pathogenic; Likely pathogenic |
rs121908405, rs28939080, rs121908407, rs121908409, rs121908410 |
RCV002247252 RCV000032998 RCV000005505 RCV000005508 RCV000005509 |
| CHONDROCALCINOSIS 2, SPORADIC |
Pathogenic |
rs121908408 |
RCV000005507 |
| Craniometaphyseal dysplasia, autosomal dominant |
Pathogenic; Likely pathogenic |
rs121908405, rs28939080, rs1579998709, rs121908406, rs267606656, rs267606658, rs267606657, rs2477420066 |
RCV000005501 RCV000005502 RCV000005503 RCV000005504 RCV000005510 RCV000005511 RCV000005512 RCV003389095 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Likely benign; Benign |
rs114851793, rs114529889 |
RCV005917868 RCV005898933 |
| Cervical cancer |
Benign |
rs114529889 |
RCV005898934 |
| Cholangiocarcinoma |
Benign |
rs153924, rs114529889 |
RCV005915324 RCV005898938 |
| Chondrocalcinosis |
Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs577325072, rs527918862, rs531980160, rs886060201, rs886060203, rs531421951, rs765143871, rs541644826, rs182073449, rs886060081, rs886060082, rs377752827, rs34294961, rs201158874, rs555469650, rs142033023, rs34917282, rs34717032, rs796083754, rs753413461, rs527743958, rs71603731, rs139106733, rs886060202 View all (9 more) |
RCV000350574 RCV000331602 RCV000270803 RCV000379550 RCV000373892 RCV000346435 RCV000352183 RCV000338249 RCV000397259 RCV000348637 RCV000342917 RCV000311314 RCV000390662 RCV000405624 RCV000364087 RCV000384980 RCV000307966 RCV000310258 RCV000407554 RCV000279222 RCV000403232 RCV000278653 RCV000299966 RCV000334888 RCV000335338 RCV000392917 RCV000265861 RCV000270060 RCV000264149 |
| Craniometadiaphyseal dysplasia wormian bone type |
Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs577325072, rs527918862, rs531980160, rs886060201, rs886060203, rs531421951, rs765143871, rs541644826, rs182073449, rs886060081, rs886060082, rs377752827, rs34294961, rs201158874, rs555469650, rs142033023, rs34917282, rs34717032, rs796083754, rs753413461, rs527743958, rs71603731, rs139106733, rs886060202 View all (9 more) |
RCV000307449 RCV000386125 RCV000360688 RCV000322863 RCV000281936 RCV000406131 RCV000294856 RCV000280826 RCV000311030 RCV000405870 RCV000285656 RCV000368291 RCV000309291 RCV000342015 RCV000307041 RCV000274179 RCV000403312 RCV000364886 RCV000293837 RCV000402881 RCV000346904 RCV000373210 RCV000359395 RCV000403694 RCV000373602 RCV000284867 RCV000323315 RCV000362286 RCV000321585 |
| Intellectual disability |
Uncertain significance |
rs1057521543, rs200410815 |
RCV001252405 RCV001252404 |
| Lung cancer |
Benign |
rs10039427, rs114529889 |
RCV005916869 RCV005898939 |
| Malignant tumor of esophagus |
Benign |
rs10039427 |
RCV005916868 |
| Ovarian cancer |
Benign; Likely benign |
rs576472902 |
RCV005898941 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs114529889 |
RCV005898936 |
| Sarcoma |
Likely benign; Benign |
rs114851793, rs114529889 |
RCV005917869 RCV005898935 |
| Uterine carcinosarcoma |
Benign |
rs153924, rs114529889 |
RCV005915323 RCV005898937 |
| Uterine corpus endometrial carcinoma |
Likely benign; Benign |
rs114851793, rs76025066, rs114529889 |
RCV005917870 RCV005922946 RCV005898940 |
|
| Disease Name |
Relationship Type |
References |
| Adamantinoma |
Associate |
29444796 |
| Alzheimer Disease |
Associate |
40542379 |
| Ankylosis |
Associate |
12297987, 20943778 |
| Bone Resorption |
Associate |
29056330 |
| Calcinosis |
Associate |
27142968 |
| Cartilage Diseases |
Associate |
27142968, 34737423 |
| Chondrocalcinosis |
Associate |
12297987, 12297989, 14558096, 15461680, 15818664, 20943778, 22647861, 24467728, 29578045, 32366894 |
| Chondrocalcinosis 2 |
Associate |
12297989, 13130483 |
| Congenital Abnormalities |
Associate |
36849876 |
| Craniometaphyseal Dysplasia Autosomal Dominant |
Associate |
14558096, 24219578 |
| Deafness |
Associate |
20943778 |
| Developmental Disabilities |
Associate |
36849876 |
| Epilepsy |
Associate |
15461680 |
| Hypertrophy |
Associate |
15818664 |
| Hypophosphatasia |
Associate |
22703652 |
| Hypophosphatemia |
Associate |
20943778 |
| Hypophosphatemia Familial |
Associate |
22647861 |
| Intellectual Disability |
Associate |
20943778 |
| Intervertebral Disc Degeneration |
Associate |
27142968 |
| Mental Retardation Autosomal Recessive 4 |
Associate |
20943778 |
| Metabolic Diseases |
Associate |
22647861 |
| Neoplasms |
Inhibit |
30846174 |
| Nerve Compression Syndromes |
Associate |
29444796 |
| Neurodegenerative Diseases |
Associate |
20943778 |
| Osteoarthritis |
Associate |
20109188, 20353559, 20943778 |
| Osteoblastoma |
Associate |
32108038 |
| Schwartz Lelek syndrome |
Associate |
20943778, 23951358, 24219578, 29056330, 29444796, 32366894 |
| Seizures |
Associate |
15461680 |
| Seizures Febrile |
Associate |
15461680 |
| Spondylitis Ankylosing |
Associate |
12632434, 15899038, 23612078, 33173993 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
30846174 |
| Uterine Cervical Neoplasms |
Associate |
17311676 |
|