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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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Genes at Omim

ALPL, BMP1, CLCN7, COL1A1, COL1A2, DMP1, ENPP1, FKBP10, GORAB, LRP4, LRP5, PLEKHM1, SERPINF1, SLC34A3, TGFB1, TNFRSF11B, WNK1,
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
BMP1 Osteogenesis imperfecta, type XIII, 614856 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
COL1A1 Caffey disease, 114000 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)
Osteogenesis imperfecta, type I, 166200 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
{Bone mineral density variation QTL, osteoporosis}, 166710 (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)
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)
FKBP10 Bruck syndrome 1, 259450 (3)
Osteogenesis imperfecta, type XI, 610968 (3)
GORAB Geroderma osteodysplasticum, 231070 (3)
LRP4 Cenani-Lenz syndactyly syndrome, 212780 (3)
?Myasthenic syndrome, congenital, 17, 616304 (3)
Sclerosteosis 2, 614305 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
PLEKHM1 Osteopetrosis, autosomal dominant 3, 618107 (3)
?Osteopetrosis, autosomal recessive 6, 611497 (3)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (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

ALPL, BMP1, CLCN7, COL1A1, COL1A2, DMP1, ENPP1, FKBP10, GORAB, LRP4, LRP5, PLEKHM1, SERPINF1, SLC34A3, TGFB1, TNFRSF11B, WNK1,
ALPL Hypophosphatasia, infantile
Odontohypophosphatasia
BMP1 Osteogenesis imperfecta, type XIII
CLCN7 Osteopetrosis, autosomal dominant 2
Osteopetrosis, autosomal recessive 4
COL1A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VII, autosomal dominant
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form
DMP1 Hypophosphatemic rickets, autosomal recessive 1
ENPP1 Hypophosphatemic rickets, autosomal recessive 2
Arterial calcification, generalized, of infancy, 1
FKBP10 Osteogenesis imperfecta, type XI
Bruck syndrome 1
GORAB Geroderma osteodysplasticum
LRP4 Cenani-Lenz syndactyly syndrome
Myasthenic syndrome, congenital 17
Sclerosteosis 2
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
PLEKHM1 Osteopetrosis, autosomal recessive 6
SERPINF1 Osteogenesis imperfecta, type VI
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
TGFB1 Camurati-Engelmann disease
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: 22
Number of Genes: 17

Export to: CSV
  • Page 1 of 1

ALPL

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 kemikp79 1 rs3200254
dbSNP Clinvar
21894735 200.0 T C . 0/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26697 0.26700 0.15877 1.00 0.00 None None None None None None ALPL|0.999977593|0.11%

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 kemikp79 8 rs11996036
dbSNP Clinvar
22059363 200.0 G A . 0/1 246 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05032 0.05032 0.07675 0.45 0.05 None None None None None None BMP1|0.631090407|10.73%

CLCN7

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 kemikp79 16 rs12926089
dbSNP Clinvar
1502857 200.0 C T . 1/1 431 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07887 0.07887 0.12405 0.96 0.01 None None None None None None CLCN7|0.061996172|59.31%

COL1A1

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 kemikp79 17 rs1800215
dbSNP Clinvar
48265495 200.0 T C . 1/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97883 0.97880 0.02905 0.00 None None None None None None COL1A1|0.749779298|7.09%

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 kemikp79 7 rs42524
dbSNP Clinvar
94043239 200.0 C G . 0/1 163 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82169 0.82170 0.20567 1.00 0.00 None None None None None None COL1A2|0.875156049|4.09%

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 kemikp79 4 rs34661425
dbSNP Clinvar
88584318 200.0 A G . 0/1 274 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01777 0.01777 0.01276 0.15 0.09 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 kemikp79 6 rs1044498
dbSNP Clinvar
132172368 200.0 A C . 0/1 439 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%

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 kemikp79 17 rs34764749
dbSNP Clinvar
39974642 200.0 A G . 1/1 110 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%

GORAB

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 kemikp79 1 rs913257
dbSNP Clinvar
170521376 200.0 G A . 1/1 414 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59265 0.59270 0.48585 0.01 0.11 None None None None None None GORAB|0.070011609|57.49%

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 kemikp79 11 rs2306029
dbSNP Clinvar
46893108 200.0 T C . 0/1 149 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36761 0.36760 0.42531 0.37 0.30 None None None None None None LRP4|0.507499481|15.5%
View kemikp79 11 rs6485702
dbSNP Clinvar
46898771 200.0 T C . 1/1 171 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44589 0.44590 0.48385 0.91 0.00 None None None None None None LRP4|0.507499481|15.5%
View kemikp79 11 rs3816614
dbSNP Clinvar
46890165 200.0 C T . 1/1 307 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57967 0.57970 0.33992 0.24 0.01 None None None None None None LRP4|0.507499481|15.5%

LRP5

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 kemikp79 11 rs564221347
dbSNP Clinvar
68080214 200.0 C CGCT . 0/1 86 CODON_INSERTION MODERATE 0.07109 0.07109 None None None None None None LRP5|0.688053439|8.86%

PLEKHM1

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 kemikp79 17 rs2684501
dbSNP Clinvar
43531297 200.0 G A . 0/1 188 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.10 None None None None None None PLEKHM1|0.084387205|54.34%

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 kemikp79 17 rs1136287
dbSNP Clinvar
1673276 200.0 C T . 0/1 255 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62620 0.62620 0.28818 0.21 0.01 None None None None None None SERPINF1|0.235212244|32.9%

SLC34A3

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 kemikp79 9 rs28542318
dbSNP Clinvar
140130606 200.0 A T . 1/1 196 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94609 0.94610 0.11308 1.00 0.00 None None None None None None SLC34A3|0.007501446|83.07%
View kemikp79 9 rs34372115
dbSNP Clinvar
140127051 200.0 G A . 0/1 171 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10104 0.10100 0.06468 0.51 0.00 None None None None None None SLC34A3|0.007501446|83.07%

TGFB1

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 kemikp79 19 rs1800470
dbSNP Clinvar
41858921 200.0 G A . 0/1 248 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54533 0.54530 0.72 0.00 None None None None None None TGFB1|0.999969362|0.12%,TMEM91|0.011320437|79.75%

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 kemikp79 8 rs2073618
dbSNP Clinvar
119964052 200.0 G C . 0/1 249 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 kemikp79 12 rs7955371
dbSNP Clinvar
994487 200.0 G C . 1/1 240 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98682 0.98680 0.01392 1.00 0.00 None None None None None None WNK1|0.318010561|26.23%
View kemikp79 12 rs12828016
dbSNP Clinvar
998365 200.0 G T . 0/1 817 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 kemikp79 12 rs956868
dbSNP Clinvar
990912 200.0 A C . 1/1 536 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85284 0.85280 0.14739 1.00 0.00 None None None None None None WNK1|0.318010561|26.23%
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