SNP Links for Gene (Select 105378130) - SNP

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Items: 1 to 20 of 2401

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Select item 14913483901.

rs1491348390 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,CAA,CAAA,CAAAA [Show Flanks]
Chromosome:: 6:167571451 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167571451::CA,NC_000006.12:167571451::CAA,NC_000006.12:167571451::CAAA,NC_000006.12:167571451::CAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: CAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.167571451_167571452insCA, NC_000006.12:g.167571451_167571452insCAA, NC_000006.12:g.167571451_167571452insCAAA, NC_000006.12:g.167571451_167571452insCAAAA

Select item 14912548132.

rs1491254813 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:167571451 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167571450:CA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.167571451_167571452del

Select item 14911717423.

rs1491171742 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT,ATGT,ATGTGT,ATGTGTGT [Show Flanks]
Chromosome:: 6:167564236 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167564236::AT,NC_000006.12:167564236::ATGT,NC_000006.12:167564236::ATGTGT,NC_000006.12:167564236::ATGTGTGT
Gene:: LOC105378130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGT=0./0 (ALFA)
HGVS:: NC_000006.12:g.167564236_167564237insAT, NC_000006.12:g.167564236_167564237insATGT, NC_000006.12:g.167564236_167564237insATGTGT, NC_000006.12:g.167564236_167564237insATGTGTGT

Select item 14911522914.

rs1491152291 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 6:167564236 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167564235:CG:
Gene:: LOC105378130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.167564236_167564237del

Select item 14909224805.

rs1490922480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:167564311 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167564310:G:A
Gene:: LOC105378130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.167564311G>A

Select item 14908693006.

rs1490869300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:167563736 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167563735:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.167563736C>T

Select item 14908286247.

rs1490828624 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:167569881 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167569880:T:C
Gene:: LOC105378130 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.167569881T>C, XR_943270.3:n.1957T>C, XR_943270.2:n.2369T>C, XR_943270.1:n.2419T>C, XR_943271.3:n.1135T>C, XR_943271.2:n.1547T>C, XR_943271.1:n.1597T>C

Select item 14906805358.

rs1490680535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:167570649 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167570648:G:T
Gene:: LOC105378130 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.167570649G>T

Select item 14904310929.

rs1490431092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:167564105 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167564104:G:T
Gene:: LOC105378130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.167564105G>T

Select item 149006766410.

rs1490067664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:167563998 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167563997:C:A,NC_000006.12:167563997:C:T
Gene:: LOC105378130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.167563998C>A, NC_000006.12:g.167563998C>T

Select item 148999492511.

rs1489994925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:167570200 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167570199:G:A
Gene:: LOC105378130 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.167570200G>A, XR_943270.3:n.2276G>A, XR_943270.2:n.2688G>A, XR_943270.1:n.2738G>A, XR_943271.3:n.1454G>A, XR_943271.2:n.1866G>A, XR_943271.1:n.1916G>A

Select item 148988199712.

rs1489881997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:167571007 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167571006:G:A,NC_000006.12:167571006:G:T
Gene:: LOC105378130 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000006.12:g.167571007G>A, NC_000006.12:g.167571007G>T

Select item 148953916913.

rs1489539169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:167570982 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167570981:G:A,NC_000006.12:167570981:G:T
Gene:: LOC105378130 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000026/7 (TOPMED)
T=0.000035/1 (TOMMO)
A=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.167570982G>A, NC_000006.12:g.167570982G>T

Select item 148938643214.

rs1489386432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:167572412 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167572411:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.167572412A>G

Select item 148906946615.

rs1489069466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:167565789 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167565788:T:C
Gene:: LOC105378130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000006.12:g.167565789T>C

Select item 148899748816.

rs1488997488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:167564859 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167564858:G:A
Gene:: LOC105378130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.00006/16 (TOPMED)
A=0.000078/11 (GnomAD)
A=0.000142/4 (TOMMO)
HGVS:: NC_000006.12:g.167564859G>A

Select item 148894432517.

rs1488944325 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:167568301 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167568300:A:C
Gene:: LOC105378130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.167568301A>C

Select item 148879366718.

rs1488793667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:167573457 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167573456:A:G
Gene:: LOC105378131 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.167573457A>G

Select item 148855614119.

rs1488556141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:167570561 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167570560:C:A,NC_000006.12:167570560:C:T
Gene:: LOC105378130 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.167570561C>A, NC_000006.12:g.167570561C>T

Select item 148834722320.

rs1488347223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:167565688 (GRCh38)
6:-1 (GRCh37)
Canonical SPDI:: NC_000006.12:167565687:G:A
Gene:: LOC105378130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000053/14 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000006.12:g.167565688G>A

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