SNP Links for Gene (Select 144486) - SNP

Links from Gene

Items: 1 to 20 of 1113

<< First< Prev

Page of 56

Next >Last >>

Select item 14909497761.

rs1490949776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:94459005 (GRCh38)
12:94852781 (GRCh37)
Canonical SPDI:: NC_000012.12:94459004:G:T
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.94459005G>T, NC_000012.11:g.94852781G>T, NG_051825.1:g.5984C>A

Select item 14905553782.

rs1490555378 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:94459596 (GRCh38)
12:94853373 (GRCh37)
Canonical SPDI:: NC_000012.12:94459596:TT:TTT
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.94459598dup, NC_000012.11:g.94853374dup, NG_051825.1:g.5392dup, NM_016122.3:c.-195dup, NM_016122.2:c.-195dup, NM_001042399.2:c.-142dup, NM_001042399.1:c.-142dup, NM_001346458.2:c.-308dup, NM_001346458.1:c.-308dup, NM_001346459.2:c.-255dup, NM_001346459.1:c.-255dup, NM_001346460.2:c.-195dup, NM_001346460.1:c.-195dup, NM_001346461.2:c.-142dup, NM_001346461.1:c.-142dup, NR_144441.2:n.271dup, NR_144441.1:n.392dup, NM_001346462.2:c.-255dup, NM_001346462.1:c.-255dup, NM_001346457.2:c.-142dup, NM_001346457.1:c.-142dup, NR_160432.1:n.271dup, NM_001368041.1:c.-142dup, NR_160431.1:n.271dup, XM_017019386.3:c.-195dup, XM_017019386.2:c.-195dup, XM_017019386.1:c.-195dup, XM_011538424.3:c.-246dup, XM_011538424.2:c.-246dup, XM_011538424.1:c.-246dup, XM_017019389.3:c.-442dup, XM_017019389.2:c.-442dup, XM_017019389.1:c.-442dup, XM_017019385.3:c.-195dup, XM_017019385.2:c.-195dup, XM_017019385.1:c.-195dup, XM_024449005.2:c.-630dup, XM_024449005.1:c.-630dup, XM_024449007.2:c.-913dup, XM_024449007.1:c.-913dup, XM_047428923.1:c.-142dup, XM_047428922.1:c.-142dup, XR_007063082.1:n.271dup, XM_047428925.1:c.-1599dup, XM_047428926.1:c.-1599dup, XR_007063080.1:n.271dup, XR_007063083.1:n.271dup, XR_007063081.1:n.271dup, XR_007063084.1:n.271dup, XM_047428928.1:c.-142dup, XM_047428930.1:c.-195dup, XM_047428929.1:c.-142dup

Select item 14901314093.

rs1490131409 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 12:94458497 (GRCh38)
12:94852273 (GRCh37)
Canonical SPDI:: NC_000012.12:94458496:GGG:GG
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000083/22 (TOPMED)
HGVS:: NC_000012.12:g.94458499del, NC_000012.11:g.94852275del, NG_051825.1:g.6492del

Select item 14896797644.

rs1489679764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:94459129 (GRCh38)
12:94852905 (GRCh37)
Canonical SPDI:: NC_000012.12:94459128:C:A
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.94459129C>A, NC_000012.11:g.94852905C>A, NG_051825.1:g.5860G>T

Select item 14888468815.

rs1488846881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:94460250 (GRCh38)
12:94854026 (GRCh37)
Canonical SPDI:: NC_000012.12:94460249:G:A
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.94460250G>A, NC_000012.11:g.94854026G>A, NG_051825.1:g.4739C>T, NM_001368037.1:c.-205C>T, NM_001368038.1:c.-152C>T, NM_001368039.1:c.-318C>T, NM_001368040.1:c.-265C>T, NM_001368042.1:c.-265C>T, NR_027035.1:n.248G>A

Select item 14866147576.

rs1486614757 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:94462385 (GRCh38)
12:94856161 (GRCh37)
Canonical SPDI:: NC_000012.12:94462384:A:T
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.94462385A>T, NC_000012.11:g.94856161A>T, NG_051825.1:g.2604T>A, NR_027035.1:n.2383A>T

Select item 14863098177.

rs1486309817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:94461506 (GRCh38)
12:94855282 (GRCh37)
Canonical SPDI:: NC_000012.12:94461505:A:G
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.94461506A>G, NC_000012.11:g.94855282A>G, NG_051825.1:g.3483T>C, NR_027035.1:n.1504A>G

Select item 14856676128.

rs1485667612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:94459458 (GRCh38)
12:94853234 (GRCh37)
Canonical SPDI:: NC_000012.12:94459457:G:A
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00031/5 (ALFA)
A=0.00112/5 (Estonian)
HGVS:: NC_000012.12:g.94459458G>A, NC_000012.11:g.94853234G>A, NG_051825.1:g.5531C>T

Select item 14851486919.

rs1485148691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:94462813 (GRCh38)
12:94856589 (GRCh37)
Canonical SPDI:: NC_000012.12:94462812:G:T
Gene:: CEP83-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.94462813G>T, NC_000012.11:g.94856589G>T, NG_051825.1:g.2176C>A

Select item 148512350810.

rs1485123508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:94461463 (GRCh38)
12:94855239 (GRCh37)
Canonical SPDI:: NC_000012.12:94461462:C:A,NC_000012.12:94461462:C:G
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.94461463C>A, NC_000012.12:g.94461463C>G, NC_000012.11:g.94855239C>A, NC_000012.11:g.94855239C>G, NG_051825.1:g.3526G>T, NG_051825.1:g.3526G>C, NR_027035.1:n.1461C>A, NR_027035.1:n.1461C>G

Select item 148511832111.

rs1485118321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:94461550 (GRCh38)
12:94855326 (GRCh37)
Canonical SPDI:: NC_000012.12:94461549:C:A,NC_000012.12:94461549:C:T
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.94461550C>A, NC_000012.12:g.94461550C>T, NC_000012.11:g.94855326C>A, NC_000012.11:g.94855326C>T, NG_051825.1:g.3439G>T, NG_051825.1:g.3439G>A, NR_027035.1:n.1548C>A, NR_027035.1:n.1548C>T

Select item 148466567212.

rs1484665672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:94462650 (GRCh38)
12:94856426 (GRCh37)
Canonical SPDI:: NC_000012.12:94462649:C:T
Gene:: CEP83-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.94462650C>T, NC_000012.11:g.94856426C>T, NG_051825.1:g.2339G>A

Select item 148378763413.

rs1483787634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:94459441 (GRCh38)
12:94853217 (GRCh37)
Canonical SPDI:: NC_000012.12:94459440:C:T
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.94459441C>T, NC_000012.11:g.94853217C>T, NG_051825.1:g.5548G>A

Select item 148318360214.

rs1483183602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:94461664 (GRCh38)
12:94855440 (GRCh37)
Canonical SPDI:: NC_000012.12:94461663:T:G
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.94461664T>G, NC_000012.11:g.94855440T>G, NG_051825.1:g.3325A>C, NR_027035.1:n.1662T>G

Select item 148315198115.

rs1483151981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:94460586 (GRCh38)
12:94854362 (GRCh37)
Canonical SPDI:: NC_000012.12:94460585:G:A,NC_000012.12:94460585:G:T
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.94460586G>A, NC_000012.12:g.94460586G>T, NC_000012.11:g.94854362G>A, NC_000012.11:g.94854362G>T, NG_051825.1:g.4403C>T, NG_051825.1:g.4403C>A, NR_027035.1:n.584G>A, NR_027035.1:n.584G>T

Select item 148205439516.

rs1482054395 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:94463051 (GRCh38)
12:94856828 (GRCh37)
Canonical SPDI:: NC_000012.12:94463051::A
Gene:: CEP83-DT (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00006/1 (ALFA)
A=0.00023/1 (Estonian)
HGVS:: NC_000012.12:g.94463051_94463052insA, NC_000012.11:g.94856827_94856828insA, NG_051825.1:g.1937_1938insT

Select item 148163990017.

rs1481639900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:94459943 (GRCh38)
12:94853719 (GRCh37)
Canonical SPDI:: NC_000012.12:94459942:G:T
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.94459943G>T, NC_000012.11:g.94853719G>T, NG_051825.1:g.5046C>A, NM_016122.2:c.-541C>A, NM_001042399.1:c.-488C>A, NM_001346460.1:c.-541C>A, NM_001346461.1:c.-488C>A, NR_144441.1:n.46C>A, NM_001346458.1:c.-654C>A, NM_001346459.1:c.-601C>A, NM_001346462.1:c.-601C>A, NM_001346457.1:c.-488C>A

Select item 148118818118.

rs1481188181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:94459816 (GRCh38)
12:94853592 (GRCh37)
Canonical SPDI:: NC_000012.12:94459815:C:G
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.94459816C>G, NC_000012.11:g.94853592C>G, NG_051825.1:g.5173G>C, NM_016122.3:c.-414G>C, NM_016122.2:c.-414G>C, NM_001042399.2:c.-361G>C, NM_001042399.1:c.-361G>C, NM_001346458.2:c.-527G>C, NM_001346458.1:c.-527G>C, NM_001346459.2:c.-474G>C, NM_001346459.1:c.-474G>C, NM_001346460.2:c.-414G>C, NM_001346460.1:c.-414G>C, NM_001346461.2:c.-361G>C, NM_001346461.1:c.-361G>C, NR_144441.2:n.52G>C, NR_144441.1:n.173G>C, NM_001346462.2:c.-474G>C, NM_001346462.1:c.-474G>C, NM_001346457.2:c.-361G>C, NM_001346457.1:c.-361G>C, NR_160432.1:n.52G>C, NM_001368041.1:c.-361G>C, NR_160431.1:n.52G>C, XM_017019386.3:c.-414G>C, XM_017019386.2:c.-414G>C, XM_017019386.1:c.-414G>C, XM_011538424.3:c.-465G>C, XM_011538424.2:c.-465G>C, XM_011538424.1:c.-465G>C, XM_017019389.3:c.-661G>C, XM_017019389.2:c.-661G>C, XM_017019389.1:c.-661G>C, XM_017019385.3:c.-414G>C, XM_017019385.2:c.-414G>C, XM_017019385.1:c.-414G>C, XM_024449005.2:c.-849G>C, XM_024449005.1:c.-849G>C, XM_024449007.2:c.-1132G>C, XM_024449007.1:c.-1132G>C, XM_047428923.1:c.-361G>C, XM_047428922.1:c.-361G>C, XR_007063082.1:n.52G>C, XM_047428925.1:c.-1818G>C, XM_047428926.1:c.-1818G>C, XR_007063080.1:n.52G>C, XR_007063083.1:n.52G>C, XR_007063081.1:n.52G>C, XR_007063084.1:n.52G>C, XM_047428928.1:c.-361G>C, XM_047428930.1:c.-414G>C, XM_047428929.1:c.-361G>C

Select item 148043372319.

rs1480433723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:94461255 (GRCh38)
12:94855031 (GRCh37)
Canonical SPDI:: NC_000012.12:94461254:T:C
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.94461255T>C, NC_000012.11:g.94855031T>C, NG_051825.1:g.3734A>G, NR_027035.1:n.1253T>C

Select item 148000054720.

rs1480000547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:94459673 (GRCh38)
12:94853449 (GRCh37)
Canonical SPDI:: NC_000012.12:94459672:C:T
Gene:: CEP83 (Varview), CEP83-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.94459673C>T, NC_000012.11:g.94853449C>T, NG_051825.1:g.5316G>A, NM_016122.3:c.-271G>A, NM_016122.2:c.-271G>A, NM_001042399.2:c.-218G>A, NM_001042399.1:c.-218G>A, NM_001346458.2:c.-384G>A, NM_001346458.1:c.-384G>A, NM_001346459.2:c.-331G>A, NM_001346459.1:c.-331G>A, NM_001346460.2:c.-271G>A, NM_001346460.1:c.-271G>A, NM_001346461.2:c.-218G>A, NM_001346461.1:c.-218G>A, NR_144441.2:n.195G>A, NR_144441.1:n.316G>A, NM_001346462.2:c.-331G>A, NM_001346462.1:c.-331G>A, NM_001346457.2:c.-218G>A, NM_001346457.1:c.-218G>A, NR_160432.1:n.195G>A, NM_001368041.1:c.-218G>A, NR_160431.1:n.195G>A, XM_017019386.3:c.-271G>A, XM_017019386.2:c.-271G>A, XM_017019386.1:c.-271G>A, XM_011538424.3:c.-322G>A, XM_011538424.2:c.-322G>A, XM_011538424.1:c.-322G>A, XM_017019389.3:c.-518G>A, XM_017019389.2:c.-518G>A, XM_017019389.1:c.-518G>A, XM_017019385.3:c.-271G>A, XM_017019385.2:c.-271G>A, XM_017019385.1:c.-271G>A, XM_024449005.2:c.-706G>A, XM_024449005.1:c.-706G>A, XM_024449007.2:c.-989G>A, XM_024449007.1:c.-989G>A, XM_047428923.1:c.-218G>A, XM_047428922.1:c.-218G>A, XR_007063082.1:n.195G>A, XM_047428925.1:c.-1675G>A, XM_047428926.1:c.-1675G>A, XR_007063080.1:n.195G>A, XR_007063083.1:n.195G>A, XR_007063081.1:n.195G>A, XR_007063084.1:n.195G>A, XM_047428928.1:c.-218G>A, XM_047428930.1:c.-271G>A, XM_047428929.1:c.-218G>A

<< First< Prev

Page of 56

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1113

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity