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Genes at Omim

BMP1, CA2, COL1A2, CRTAP, DLX3, DMP1, ENPP1, EXT1, FKBP10, GNAS, LEMD3, LRP4, MMP2, SERPINF1, SERPINH1, SH3BP2, SLC34A1, TNFRSF11A, TNFRSF11B, WNK1,
BMP1 Osteogenesis imperfecta, type XIII, 614856 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
COL1A2 {Osteoporosis, postmenopausal}, 166710 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3)
Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
CRTAP Osteogenesis imperfecta, type VII, 610682 (3)
DLX3 Amelogenesis imperfecta, type IV, 104510 (3)
Trichodontoosseous syndrome, 190320 (3)
DMP1 Hypophosphatemic rickets, AR, 241520 (3)
ENPP1 Arterial calcification, generalized, of infancy, 1, 208000 (3)
Cole disease, 615522 (3)
Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
{Obesity, susceptibility to}, 601665 (3)
{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)
EXT1 Chondrosarcoma, 215300 (3)
Exostoses, multiple, type 1, 133700 (3)
FKBP10 Bruck syndrome 1, 259450 (3)
Osteogenesis imperfecta, type XI, 610968 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
LEMD3 Buschke-Ollendorff syndrome, 166700 (3)
Osteopoikilosis with or without melorheostosis, 166700 (3)
LRP4 Cenani-Lenz syndactyly syndrome, 212780 (3)
?Myasthenic syndrome, congenital, 17, 616304 (3)
Sclerosteosis 2, 614305 (3)
MMP2 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SH3BP2 Cherubism, 118400 (3)
SLC34A1 Hypercalcemia, infantile, 2, 616963 (3)
?Fanconi renotubular syndrome 2, 613388 (3)
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)
TNFRSF11A {Paget disease of bone 2, early-onset}, 602080 (3)
Osteolysis, familial expansile, 174810 (3)
Osteopetrosis, autosomal recessive 7, 612301 (3)
TNFRSF11B Paget disease of bone 5, juvenile-onset, 239000 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

BMP1, CA2, COL1A2, CRTAP, DLX3, DMP1, ENPP1, EXT1, FKBP10, GNAS, LEMD3, LRP4, MMP2, SERPINF1, SERPINH1, SH3BP2, SLC34A1, TNFRSF11A, TNFRSF11B, WNK1,
BMP1 Osteogenesis imperfecta, type XIII
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form
CRTAP Osteogenesis imperfecta, type VII
DLX3 Trichodontoosseous syndrome
Amelogenesis imperfecta, type IV
DMP1 Hypophosphatemic rickets, autosomal recessive 1
ENPP1 Hypophosphatemic rickets, autosomal recessive 2
Arterial calcification, generalized, of infancy, 1
EXT1 Exostoses, multiple, type 1
FKBP10 Osteogenesis imperfecta, type XI
Bruck syndrome 1
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
LEMD3 Buschke-Ollendorff syndrome
Osteopoikilosis
LRP4 Cenani-Lenz syndactyly syndrome
Myasthenic syndrome, congenital 17
Sclerosteosis 2
MMP2 Torg-Winchester syndrome
Multicentric osteolysis, nodulosis, and arthropathy
SERPINF1 Osteogenesis imperfecta, type VI
SERPINH1 Osteogenesis imperfecta, type X
SH3BP2 Cherubism
SLC34A1 Fanconi renotubular syndrome 2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
TNFRSF11A Familial expansile osteolysis
Paget disease of bone 2, early-onset
Osteopetrosis, autosomal recessive 7
TNFRSF11B Paget disease of bone 5, juvenile
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA

Genes at HGMD

Summary

Number of Variants: 41
Number of Genes: 20

Export to: CSV
  • Page 1 of 1

BMP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 8 rs61729094
dbSNP Clinvar
22059323 200.0 C T . 0/1 238 SYNONYMOUS_CODING LOW SILENT 0.03554 0.03554 0.01768 None None None None None None BMP1|0.631090407|10.73%

CA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 8 rs703
dbSNP Clinvar
86389403 200.0 T C . 0/1 424 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

COL1A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 7 rs412777
dbSNP Clinvar
94041937 200.0 A C . 0/1 361 SYNONYMOUS_CODING LOW SILENT 0.32728 0.32730 0.36106 None None None None None None COL1A2|0.875156049|4.09%
View kemik154 7 rs1800248
dbSNP Clinvar
94056349 200.0 C T . 0/1 247 SYNONYMOUS_CODING LOW SILENT 0.09944 0.09944 0.10134 None None None None None None COL1A2|0.875156049|4.09%

CRTAP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 3 rs1135128
dbSNP Clinvar
33174168 200.0 G A . 0/1 231 SYNONYMOUS_CODING LOW SILENT 0.29353 0.29350 0.38428 None None None None None None CRTAP|0.141701199|44.18%

DLX3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 17 rs2303466
dbSNP Clinvar
48070878 200.0 C T . 0/1 352 SYNONYMOUS_CODING LOW SILENT 0.22644 0.22640 0.16469 None None None None None None DLX3|0.167828753|40.58%

DMP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 4 rs2615498
dbSNP Clinvar
88584148 200.0 C T . 0/1 373 SYNONYMOUS_CODING LOW SILENT 0.17572 0.17570 0.15132 None None None None None None DMP1|0.009519189|81.24%
View kemik154 4 rs2615497
dbSNP Clinvar
88584160 200.0 G A . 0/1 394 SYNONYMOUS_CODING LOW SILENT 0.32129 0.32130 0.28310 None None None None None None DMP1|0.009519189|81.24%

ENPP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 6 rs1044498
dbSNP Clinvar
132172368 200.0 A C . 0/1 569 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34225 0.34230 0.35022 0.12 0.07 None None None None None None ENPP1|0.410372092|20.17%

EXT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 8 rs11546829
dbSNP Clinvar
118847782 200.0 G A . 0/1 306 SYNONYMOUS_CODING LOW SILENT 0.17392 0.17390 0.24604 None None None None None None EXT1|0.978905939|1.49%
View kemik154 8 rs7837891
dbSNP Clinvar
118819578 200.0 C T . 0/1 223 SYNONYMOUS_CODING LOW SILENT 0.33846 0.33850 0.35107 None None None None None None EXT1|0.978905939|1.49%

FKBP10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 17 rs34764749
dbSNP Clinvar
39974642 200.0 A G . 0/1 202 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07428 0.07428 0.06305 1.00 0.00 None None None None None None FKBP10|0.218625245|34.52%

GNAS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 20 rs7121
dbSNP Clinvar
57478807 200.0 C T . 0/1 378 SYNONYMOUS_CODING LOW SILENT None None None None None None GNAS|0.689085503|8.83%

LEMD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 12 rs61736594
dbSNP Clinvar
65563712 200.0 C T . 0/1 179 SYNONYMOUS_CODING LOW SILENT 0.08327 0.08327 None None None None None None LEMD3|0.197854532|36.92%

LRP4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 11 rs72897663
dbSNP Clinvar
46916179 200.0 T G . 0/1 274 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02077 0.02077 0.03154 0.09 0.27 None None None None None None LRP4|0.507499481|15.5%

MMP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 16 rs14070
dbSNP Clinvar
55536727 200.0 C T . 0/1 265 SYNONYMOUS_CODING LOW SILENT 0.30391 0.30390 0.36642 None None None None None None MMP2|0.959393779|2%
View kemik154 16 rs2287074
dbSNP Clinvar
55527113 200.0 G A . 0/1 344 SYNONYMOUS_CODING LOW SILENT 0.32488 0.32490 0.35919 None None None None None None MMP2|0.959393779|2%
View kemik154 16 rs1132896
dbSNP Clinvar
55519535 200.0 G C . 0/1 206 SYNONYMOUS_CODING LOW SILENT 0.20008 0.20010 0.25677 None None None None None None MMP2|0.959393779|2%

SERPINF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 17 rs6828
dbSNP Clinvar
1680002 200.0 T C . 0/1 249 SYNONYMOUS_CODING LOW SILENT 0.77676 0.77680 0.22989 None None None None None None SERPINF1|0.235212244|32.9%

SERPINH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 11 rs585821
dbSNP Clinvar
75282882 200.0 G A . 0/1 491 SYNONYMOUS_CODING LOW SILENT 0.37680 0.37680 0.35030 None None None None None None SERPINH1|0.421887911|19.52%
View kemik154 11 rs651581
dbSNP Clinvar
75277992 200.0 C T . 0/1 196 SYNONYMOUS_CODING LOW SILENT 0.29932 0.29930 0.42570 None None None None None None SERPINH1|0.421887911|19.52%
View kemik154 11 rs650241
dbSNP Clinvar
75277757 200.0 C G . 0/1 288 SYNONYMOUS_CODING LOW SILENT 0.37300 0.37300 0.34559 None None None None None None SERPINH1|0.421887911|19.52%
View kemik154 11 rs649257
dbSNP Clinvar
75279846 200.0 C T . 0/1 495 SYNONYMOUS_CODING LOW SILENT 0.37700 0.37700 0.35192 None None None None None None SERPINH1|0.421887911|19.52%

SH3BP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 4 rs231402
dbSNP Clinvar
2822467 200.0 G T . 0/1 210 SYNONYMOUS_CODING LOW SILENT 0.37201 0.37200 0.34974 None None None None None None SH3BP2|0.045893952|63.94%
View kemik154 4 rs1709004
dbSNP Clinvar
2814148 200.0 A G . 0/1 530 None None None 0.10583 0.10580 0.08433 None None None None None None SH3BP2|0.045893952|63.94%
View kemik154 4 rs16843413
dbSNP Clinvar
2826912 200.0 C G . 0/1 186 SYNONYMOUS_CODING LOW SILENT 0.14677 0.14680 0.11887 None None None None None None SH3BP2|0.045893952|63.94%
View kemik154 4 rs231399
dbSNP Clinvar
2831383 200.0 T G . 0/1 164 SYNONYMOUS_CODING LOW SILENT 0.46625 0.46630 0.45433 None None None None None None SH3BP2|0.045893952|63.94%

SLC34A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 5 rs5030873
dbSNP Clinvar
176815124 200.0 T C . 0/1 202 SYNONYMOUS_CODING LOW SILENT 0.21286 0.21290 0.24220 None None None None None None SLC34A1|0.079884626|55.22%

TNFRSF11A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 18 rs1805034
dbSNP Clinvar
60027241 200.0 C T . 0/1 631 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59425 0.59420 0.44772 1.00 0.01 None None None None None None TNFRSF11A|0.301687463|27.52%

TNFRSF11B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 8 rs2073618
dbSNP Clinvar
119964052 200.0 G C . 0/1 246 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66673 0.66670 0.41108 1.00 0.00 None None None None None None TNFRSF11B|0.546209058|13.92%

WNK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 12 rs12828016
dbSNP Clinvar
998365 200.0 G T . 0/1 705 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41753 0.41750 0.43142 0.06 0.00 None None None None None None WNK1|0.318010561|26.23%
View kemik154 12 rs7300444
dbSNP Clinvar
993930 200.0 C T . 0/1 230 SYNONYMOUS_CODING LOW SILENT 0.39896 0.39900 0.39167 None None None None None None WNK1|0.318010561|26.23%
View kemik154 12 rs9804992
dbSNP Clinvar
988894 200.0 G A . 0/1 332 SYNONYMOUS_CODING LOW SILENT 0.14577 0.14580 0.14778 None None None None None None WNK1|0.318010561|26.23%
View kemik154 12 rs11611231
dbSNP Clinvar
974326 200.0 G C . 0/1 338 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14097 0.14100 0.00 None None None None None None WNK1|0.318010561|26.23%
View kemik154 12 rs141823469
dbSNP Clinvar
974308 200.0 T TC . 0/1 296 FRAME_SHIFT HIGH None None None None None None WNK1|0.318010561|26.23%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View kemik154 4 rs231331
dbSNP Clinvar
2798170 200.0 G A . 0/1 545 None None None 0.36741 0.36740 None None None None None None SH3BP2|0.045893952|63.94%
View kemik154 11 rs314776
dbSNP Clinvar
68133035 200.0 T C . 0/1 222 None None None 0.40316 0.40320 0.49985 None None None None None None LRP5|0.688053439|8.86%
View kemik154 12 rs34032084
dbSNP Clinvar
992229 200.0 C T . 0/1 224 None None None 0.10104 0.10100 0.10780 None None None None None None WNK1|0.318010561|26.23%
View kemik154 5 rs78431233
dbSNP Clinvar
14871560 200.0 C T . 0/1 160 None None None 0.02157 0.02157 0.05414 None None None None None None ANKH|0.170147079|40.3%
View kemik154 16 rs243834
dbSNP Clinvar
55536687 200.0 A G . 0/1 213 None None None 0.48762 0.48760 0.44321 None None None None None None MMP2|0.959393779|2%
View kemik154 11 rs775707952
dbSNP Clinvar
65770848 66.61 T G . 0/1 122 None None None None None None None None None BANF1|0.937323136|2.58%
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