SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

IGHMBP2, LRP5, MEN1, PTH, SBF2,
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
LRP5 {Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Hyperostosis, endosteal, 144750 (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)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
PTH Hypoparathyroidism, autosomal dominant, 146200 (3)
Hypoparathyroidism, autosomal recessive, 146200 (3)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (3)

Genes at Clinical Genomics Database

IGHMBP2, LRP5, MEN1, PTH, SBF2,
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
MEN1 Hyperparathyroidism, familial primary
Multiple endocrine neoplasia type I
PTH Hypoparathyroidism, familial isolated
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma

Genes at HGMD

Summary

Number of Variants: 51
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

IGHMBP2

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 m21 14_15b68a 11 rs622082
dbSNP Clinvar
68703959 6039.77 A G . 0/1 554 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24621 0.24620 0.24677 1.00 0.00 None None None None None None IGHMBP2|0.010106738|80.78%
View m21 14_15b68a 11 rs546382
dbSNP Clinvar
68704264 6299.77 C T . 0/1 611 SYNONYMOUS_CODING LOW SILENT 0.24621 0.24620 0.24761 None None None None None None IGHMBP2|0.010106738|80.78%
View m21 14_15b68a 11 rs1249463
dbSNP Clinvar
68671477 3097.77 T C . 0/1 341 SYNONYMOUS_CODING LOW SILENT 0.67512 0.67510 0.21239 None None None None None None IGHMBP2|0.010106738|80.78%
View m21 14_15b68a 11 rs560096
dbSNP Clinvar
68678962 4304.77 T C . 0/1 432 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68051 0.68050 0.22144 1.00 0.00 None None None None None None IGHMBP2|0.010106738|80.78%

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 m21 14_15b68a 11 rs3736228
dbSNP Clinvar
68201295 3337.77 C T . 0/1 412 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11601 0.11600 0.10923 0.22 0.01 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs2306862
dbSNP Clinvar
68177510 3291.77 C T . 0/1 417 SYNONYMOUS_CODING LOW SILENT 0.11022 0.11020 0.12165 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs2277268
dbSNP Clinvar
68174122 5907.77 G A . 0/1 622 SYNONYMOUS_CODING LOW SILENT 0.05591 0.05591 0.06953 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs545382
dbSNP Clinvar
68171013 13221.77 T C . 1/1 529 SYNONYMOUS_CODING LOW SILENT 0.84145 0.84150 0.18463 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs764663599
dbSNP Clinvar
68193570 4846.77 C A . 0/1 572 SYNONYMOUS_CODING LOW SILENT None None None None None None LRP5|0.688053439|8.86%

MEN1

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 m21 14_15b68a 11 rs2959656
dbSNP Clinvar
64572018 19288.77 T C . 1/1 769 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83447 0.83450 0.09157 0.76 0.00 None None None None None None MEN1|0.661753232|9.63%
View m21 14_15b68a 11 rs540012
dbSNP Clinvar
64572557 20347.77 A G . 1/1 787 SYNONYMOUS_CODING LOW SILENT 0.97604 0.97600 0.02385 None None None None None None MEN1|0.661753232|9.63%
View m21 14_15b68a 11 rs2071313
dbSNP Clinvar
64572602 19715.77 G A . 1/1 760 SYNONYMOUS_CODING LOW SILENT 0.30791 0.30790 0.30402 None None None None None None MEN1|0.661753232|9.63%

PTH

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 m21 14_15b68a 11 rs6256
dbSNP Clinvar
13514053 2910.77 G T . 0/1 305 SYNONYMOUS_CODING LOW SILENT 0.15136 0.15140 0.12350 None None None None None None PTH|0.977420728|1.54%

SBF2

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 m21 14_15b68a 11 rs7102464
dbSNP Clinvar
9879838 3777.77 C T . 0/1 389 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03275 0.03275 0.07852 0.82 0.00 None None None None None None SBF2|0.666536202|9.49%
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 m21 14_15b68a 11 rs10791978
dbSNP Clinvar
68131167 3917.77 A T . 1/1 157 None None None 1.00000 1.00000 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs878962750
dbSNP Clinvar
68131124 137.73 CA C . 0/1 79 None None None None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs643981
dbSNP Clinvar
68115764 7386.77 C T . 1/1 289 None None None 0.40435 0.40440 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs147319344,rs56167522
dbSNP Clinvar
63413962 7170.73 AAAAT A . 1/1 162 None None None 0.77236 0.77240 0.26202 None None None None None None ATL3|0.126031529|46.47%
View m21 14_15b68a 11 rs2850596
dbSNP Clinvar
62460066 3069.77 T C . 1/1 117 None None None 0.74720 0.74720 None None None None None None BSCL2|0.09973617|51.22%
View m21 14_15b68a 11 rs2850597
dbSNP Clinvar
62459994 2731.77 A G . 1/1 104 None None None 0.74940 0.74940 0.26950 None None None None None None BSCL2|0.09973617|51.22%
View m21 14_15b68a 11 rs177706
dbSNP Clinvar
13514505 593.77 C T . 0/1 55 None None None 0.49701 0.49700 None None None None None None PTH|0.977420728|1.54%
View m21 14_15b68a 11 rs694
dbSNP Clinvar
13514417 1137.77 C T . 0/1 151 None None None 0.41773 0.41770 0.48629 None None None None None None PTH|0.977420728|1.54%
View m21 14_15b68a 11 rs4910097
dbSNP Clinvar
10215598 978.77 C T . 0/1 93 None None None 0.36042 0.36040 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs10840344
dbSNP Clinvar
10050157 940.77 T A . 0/1 114 None None None 0.12021 0.12020 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs2403226
dbSNP Clinvar
9983737 1430.77 C T . 0/1 148 None None None 0.25320 0.25320 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs4910073
dbSNP Clinvar
9917620 988.77 G C . 0/1 107 None None None 0.36382 0.36380 0.35940 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs878888766,rs758560772
dbSNP Clinvar
9878332 1124.73 ATT A,AT . 1/2 88 None None None None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs375686
dbSNP Clinvar
9875353 2062.77 G T . 1/1 79 None None None 0.98802 0.98800 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs4424662
dbSNP Clinvar
9871849 1405.77 C T . 0/1 130 None None None 0.28634 0.28630 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs7483882
dbSNP Clinvar
9861009 5761.77 G A . 1/1 225 None None None 0.63558 0.63560 0.18499 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs116966215
dbSNP Clinvar
9838591 2744.77 G A . 0/1 280 None None None 0.00879 0.00879 0.02148 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs4910065
dbSNP Clinvar
9833988 1041.77 A G . 0/1 103 None None None 0.11721 0.11720 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs11042500
dbSNP Clinvar
9830595 1966.77 G A . 0/1 161 None None None 0.25479 0.25480 0.44950 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs2645029
dbSNP Clinvar
9812236 4481.77 G A . 1/1 173 None None None 0.80272 0.80270 0.11474 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs71453928,rs397775019
dbSNP Clinvar
9806914 7115.73 T TACTG . 1/1 159 None None None 0.41613 0.41610 0.42073 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs3763862
dbSNP Clinvar
9802952 1368.77 A C . 0/1 109 None None None 0.40974 0.40970 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs568862
dbSNP Clinvar
68706935 1609.77 A G . 0/1 182 None None None 0.39996 0.40000 None None None None None None IGHMBP2|0.010106738|80.78%
View m21 14_15b68a 11 rs3751000
dbSNP Clinvar
9801925 1395.77 T G . 0/1 139 None None None 0.32748 0.32750 0.27229 None None None None None None SBF2|0.666536202|9.49%
View m21 14_15b68a 11 rs2291466
dbSNP Clinvar
68207438 1520.77 C A . 0/1 195 None None None 0.05072 0.05072 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs901825
dbSNP Clinvar
68206197 1884.77 G C . 0/1 209 None None None 0.08506 0.08506 0.10419 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs901824
dbSNP Clinvar
68206173 2952.77 T C . 0/1 301 None None None 0.08526 0.08526 0.10606 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs12417014
dbSNP Clinvar
68201007 1522.77 C T . 0/1 136 None None None 0.08746 0.08746 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs607887
dbSNP Clinvar
68196961 5500.77 C T . 1/1 213 None None None 0.33606 0.33610 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs554734
dbSNP Clinvar
68192518 5429.77 T G . 1/1 214 None None None 0.31689 0.31690 0.34856 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs689179
dbSNP Clinvar
68179166 1740.77 A G . 0/1 191 None None None 0.70268 0.70270 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs2242339
dbSNP Clinvar
68179125 3243.77 C T . 0/1 358 None None None 0.04912 0.04912 0.06311 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs576118
dbSNP Clinvar
68177708 813.77 G A . 0/1 82 None None None 0.70248 0.70250 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs4988322
dbSNP Clinvar
68177614 2755.77 T C . 0/1 259 None None None 0.05591 0.05591 0.07023 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs4988319
dbSNP Clinvar
68154188 11713.77 G A . 1/1 457 None None None 0.11542 0.11540 0.15186 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs373782074
dbSNP Clinvar
68153765 4333.77 A G . 0/1 446 None None None 0.00008 None None None None None None LRP5|0.688053439|8.86%
View m21 14_15b68a 11 rs314776
dbSNP Clinvar
68133035 11483.77 T C . 1/1 454 None None None 0.40316 0.40320 0.49985 None None None None None None LRP5|0.688053439|8.86%
  • Page 1 of 1