SNP Links for Gene (Select 782) - SNP

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Select item 14913419531.

rs1491341953 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:39183339 (GRCh38)
17:37339593 (GRCh37)
Canonical SPDI:: NC_000017.11:39183339:G:GG
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000017.11:g.39183340dup, NC_000017.10:g.37339593dup, NG_052811.1:g.19364dup

Select item 14912680152.

rs1491268015 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:39175158 (GRCh38)
17:37331411 (GRCh37)
Canonical SPDI:: NC_000017.11:39175157:CA:
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000005/1 (GnomAD_exomes)
-=0.000009/1 (ExAC)
HGVS:: NC_000017.11:g.39175158_39175159del, NC_000017.10:g.37331411_37331412del, NG_052811.1:g.27545_27546del, NM_000723.5:c.*34_*35del, NM_000723.4:c.*34_*35del, XM_005257645.3:c.*34_*35del, XM_005257645.2:c.*34_*35del, XM_005257645.1:c.*34_*35del, XM_006722072.3:c.*34_*35del, XM_006722072.2:c.*34_*35del, XM_006722072.1:c.*34_*35del, XM_017025024.2:c.*34_*35del, XM_017025024.1:c.*34_*35del, XM_017025025.2:c.*34_*35del, XM_017025025.1:c.*34_*35del, XM_047436675.1:c.*34_*35del

Select item 14912582653.

rs1491258265 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 17:39183340 (GRCh38)
17:37339593 (GRCh37)
Canonical SPDI:: NC_000017.11:39183338:AGA:A,NC_000017.11:39183338:AGA:AGAGA
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000169/2 (ALFA)
AG=0.000004/1 (TOPMED)
-=0.000057/6 (GnomAD)
HGVS:: NC_000017.11:g.39183340_39183341del, NC_000017.11:g.39183340_39183341dup, NC_000017.10:g.37339593_37339594del, NC_000017.10:g.37339593_37339594dup, NG_052811.1:g.19364_19365del, NG_052811.1:g.19364_19365dup

Select item 14908254884.

rs1490825488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39190334 (GRCh38)
17:37346587 (GRCh37)
Canonical SPDI:: NC_000017.11:39190333:C:T
Gene:: CACNB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.39190334C>T, NC_000017.10:g.37346587C>T, NG_052811.1:g.12370G>A

Select item 14908091255.

rs1490809125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39175951 (GRCh38)
17:37332204 (GRCh37)
Canonical SPDI:: NC_000017.11:39175950:T:C
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.39175951T>C, NC_000017.10:g.37332204T>C, NG_052811.1:g.26753A>G, XR_934743.3:n.178T>C, XR_934743.2:n.288T>C, XR_934743.1:n.185T>C, XR_001753099.2:n.178T>C, XR_001753099.1:n.288T>C

Select item 14907332566.

rs1490733256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:39183667 (GRCh38)
17:37339920 (GRCh37)
Canonical SPDI:: NC_000017.11:39183666:C:G
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39183667C>G, NC_000017.10:g.37339920C>G, NG_052811.1:g.19037G>C

Select item 14906670147.

rs1490667014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:39174608 (GRCh38)
17:37330861 (GRCh37)
Canonical SPDI:: NC_000017.11:39174607:A:C
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.39174608A>C, NC_000017.10:g.37330861A>C, NG_052811.1:g.28096T>G, NM_000723.5:c.*585T>G, NM_000723.4:c.*585T>G, XM_005257645.3:c.*585T>G, XM_005257645.2:c.*585T>G, XM_005257645.1:c.*585T>G, XM_006722072.3:c.*585T>G, XM_006722072.2:c.*585T>G, XM_006722072.1:c.*585T>G, XM_017025024.2:c.*585T>G, XM_017025024.1:c.*585T>G, XM_017025025.2:c.*585T>G, XM_017025025.1:c.*585T>G, XM_047436675.1:c.*585T>G

Select item 14906064358.

rs1490606435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39182798 (GRCh38)
17:37339051 (GRCh37)
Canonical SPDI:: NC_000017.11:39182797:G:A
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.39182798G>A, NC_000017.10:g.37339051G>A, NG_052811.1:g.19906C>T, XM_005257646.4:c.*195C>T, XM_005257646.3:c.*195C>T, XM_005257646.2:c.*195C>T

Select item 14904678229.

rs1490467822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:39191707 (GRCh38)
17:37347960 (GRCh37)
Canonical SPDI:: NC_000017.11:39191706:A:G
Gene:: CACNB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39191707A>G, NC_000017.10:g.37347960A>G, NG_052811.1:g.10997T>C

Select item 149040470510.

rs1490404705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:39197783 (GRCh38)
17:37354036 (GRCh37)
Canonical SPDI:: NC_000017.11:39197782:A:G
Gene:: CACNB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.39197783A>G, NC_000017.10:g.37354036A>G, NG_052811.1:g.4921T>C, NG_053022.1:g.2501A>G

Select item 149028163411.

rs1490281634 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:39182067 (GRCh38)
17:37338321 (GRCh37)
Canonical SPDI:: NC_000017.11:39182067:G:GG
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.39182068dup, NC_000017.10:g.37338321dup, NG_052811.1:g.20636dup

Select item 149028017012.

rs1490280170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39195070 (GRCh38)
17:37351323 (GRCh37)
Canonical SPDI:: NC_000017.11:39195069:C:T
Gene:: CACNB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39195070C>T, NC_000017.10:g.37351323C>T, NG_052811.1:g.7634G>A

Select item 149006938613.

rs1490069386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39196910 (GRCh38)
17:37353163 (GRCh37)
Canonical SPDI:: NC_000017.11:39196909:G:A
Gene:: CACNB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39196910G>A, NC_000017.10:g.37353163G>A, NG_052811.1:g.5794C>T, NG_053022.1:g.1628G>A

Select item 149000904914.

rs1490009049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39189917 (GRCh38)
17:37346170 (GRCh37)
Canonical SPDI:: NC_000017.11:39189916:C:T
Gene:: CACNB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.39189917C>T, NC_000017.10:g.37346170C>T, NG_052811.1:g.12787G>A

Select item 148989973215.

rs1489899732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39188950 (GRCh38)
17:37345203 (GRCh37)
Canonical SPDI:: NC_000017.11:39188949:G:A
Gene:: CACNB1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39188950G>A, NC_000017.10:g.37345203G>A, NG_052811.1:g.13754C>T

Select item 148985029716.

rs1489850297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:39175714 (GRCh38)
17:37331967 (GRCh37)
Canonical SPDI:: NC_000017.11:39175713:C:G
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.39175714C>G, NC_000017.10:g.37331967C>G, NG_052811.1:g.26990G>C

Select item 148978621017.

rs1489786210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39182483 (GRCh38)
17:37338736 (GRCh37)
Canonical SPDI:: NC_000017.11:39182482:G:A
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.39182483G>A, NC_000017.10:g.37338736G>A, NG_052811.1:g.20221C>T

Select item 148949575318.

rs1489495753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:39183485 (GRCh38)
17:37339738 (GRCh37)
Canonical SPDI:: NC_000017.11:39183484:C:G
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39183485C>G, NC_000017.10:g.37339738C>G, NG_052811.1:g.19219G>C

Select item 148940066919.

rs1489400669 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:39177159 (GRCh38)
17:37333412 (GRCh37)
Canonical SPDI:: NC_000017.11:39177158:A:G
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000071/2 (TOMMO)
HGVS:: NC_000017.11:g.39177159A>G, NC_000017.10:g.37333412A>G, NG_052811.1:g.25545T>C, NM_199247.3:c.*86T>C, NM_199247.2:c.*86T>C, NM_199248.3:c.*86T>C, NM_199248.2:c.*86T>C, XR_934743.3:n.339A>G, XR_934743.2:n.449A>G, XR_934743.1:n.346A>G

Select item 148923955520.

rs1489239555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39180555 (GRCh38)
17:37336808 (GRCh37)
Canonical SPDI:: NC_000017.11:39180554:T:C
Gene:: CACNB1 (Varview), LOC105371768 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
C=0.000045/12 (TOPMED)
HGVS:: NC_000017.11:g.39180555T>C, NC_000017.10:g.37336808T>C, NG_052811.1:g.22149A>G

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