SNP Links for Gene (Select 8812) - SNP

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Select item 14914966231.

rs1491496623 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:99491923 (GRCh38)
14:99958261 (GRCh37)
Canonical SPDI:: NC_000014.9:99491923::C
Gene:: CCNK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.99491923_99491924insC, NC_000014.8:g.99958260_99958261insC

Select item 14911263532.

rs1491126353 has merged into rs537283860 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 14:99488289 (GRCh38)
14:99954626 (GRCh37)
Canonical SPDI:: NC_000014.9:99488277:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:99488277:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:99488277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:99488277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:99488277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:99488277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:99488277:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: CCNK (Varview), SETD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000014.9:g.99488289_99488292del, NC_000014.9:g.99488290_99488292del, NC_000014.9:g.99488291_99488292del, NC_000014.9:g.99488292del, NC_000014.9:g.99488292dup, NC_000014.9:g.99488291_99488292dup, NC_000014.9:g.99488290_99488292dup, NC_000014.8:g.99954626_99954629del, NC_000014.8:g.99954627_99954629del, NC_000014.8:g.99954628_99954629del, NC_000014.8:g.99954629del, NC_000014.8:g.99954629dup, NC_000014.8:g.99954628_99954629dup, NC_000014.8:g.99954627_99954629dup

Select item 14911158493.

rs1491115849 has merged into rs954155721 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 14:99489145 (GRCh38)
14:99955482 (GRCh37)
Canonical SPDI:: NC_000014.9:99489137:TTTTTTTTT:TTTTTTT,NC_000014.9:99489137:TTTTTTTTT:TTTTTTTT,NC_000014.9:99489137:TTTTTTTTT:TTTTTTTTTT,NC_000014.9:99489137:TTTTTTTTT:TTTTTTTTTTT
Gene:: CCNK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000476/2 (Estonian)
-=0.000948/251 (TOPMED)
HGVS:: NC_000014.9:g.99489145_99489146del, NC_000014.9:g.99489146del, NC_000014.9:g.99489146dup, NC_000014.9:g.99489145_99489146dup, NC_000014.8:g.99955482_99955483del, NC_000014.8:g.99955483del, NC_000014.8:g.99955483dup, NC_000014.8:g.99955482_99955483dup

Select item 14908830784.

rs1490883078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:99507593 (GRCh38)
14:99973930 (GRCh37)
Canonical SPDI:: NC_000014.9:99507592:G:A
Gene:: CCNK (Varview), CCDC85C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.99507593G>A, NC_000014.8:g.99973930G>A, NM_001144995.2:c.*7653C>T

Select item 14908571655.

rs1490857165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:99508624 (GRCh38)
14:99974961 (GRCh37)
Canonical SPDI:: NC_000014.9:99508623:G:A
Gene:: CCNK (Varview), CCDC85C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_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_000014.9:g.99508624G>A, NC_000014.8:g.99974961G>A, NM_001144995.2:c.*6622C>T

Select item 14907132446.

rs1490713244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:99500002 (GRCh38)
14:99966339 (GRCh37)
Canonical SPDI:: NC_000014.9:99500001:T:G
Gene:: CCNK (Varview), CCDC85C (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_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_000014.9:g.99500002T>G, NC_000014.8:g.99966339T>G

Select item 14905267487.

rs1490526748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:99484276 (GRCh38)
14:99950613 (GRCh37)
Canonical SPDI:: NC_000014.9:99484275:G:A,NC_000014.9:99484275:G:T
Gene:: CCNK (Varview), SETD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.99484276G>A, NC_000014.9:g.99484276G>T, NC_000014.8:g.99950613G>A, NC_000014.8:g.99950613G>T

Select item 14905127798.

rs1490512779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:99491544 (GRCh38)
14:99957881 (GRCh37)
Canonical SPDI:: NC_000014.9:99491543:C:T
Gene:: CCNK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.99491544C>T, NC_000014.8:g.99957881C>T

Select item 14903133499.

rs1490313349 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 14:99481304 (GRCh38)
14:99947641 (GRCh37)
Canonical SPDI:: NC_000014.9:99481301:TTTT:TT
Gene:: CCNK (Varview), SETD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.99481304_99481305del, NC_000014.8:g.99947641_99947642del, XM_011537231.3:c.-50_-49del, XM_011537231.2:c.-50_-49del, XM_011537231.1:c.116_117del, XM_011537233.3:c.-50_-49del, XM_011537233.2:c.-50_-49del, XM_011537233.1:c.-50_-49del, XM_011537235.1:c.-50_-49del

Select item 149011808410.

rs1490118084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:99500299 (GRCh38)
14:99966636 (GRCh37)
Canonical SPDI:: NC_000014.9:99500298:C:A
Gene:: CCNK (Varview), CCDC85C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000014.9:g.99500299C>A, NC_000014.8:g.99966636C>A, NM_001144995.2:c.*14947G>T

Select item 148975241411.

rs1489752414 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCCCC [Show Flanks]
Chromosome:: 14:99510302 (GRCh38)
14:99976640 (GRCh37)
Canonical SPDI:: NC_000014.9:99510302:CCCCCACCCCC:CCCCCACCCCCACCCCC
Gene:: CCNK (Varview), CCDC85C (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,inframe_insertion,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CCCCCACCCCCACCCCC=0./0 (ALFA)
CCCCCA=0.00013/3 (GnomAD)
HGVS:: NC_000014.9:g.99510308_99510313dup, NC_000014.8:g.99976645_99976650dup, XM_005268154.5:c.1269_1274dup, XM_005268154.4:c.1269_1274dup, XM_005268154.3:c.1269_1274dup, XM_005268154.2:c.1269_1274dup, XM_005268154.1:c.1269_1274dup, NM_001144995.2:c.*4938_*4943dup, NM_001099402.2:c.1269_1274dup, NM_001099402.1:c.1269_1274dup, XM_047431839.1:c.1269_1274dup, XP_005268211.1:p.Pro424_Pro425dup, NP_001092872.1:p.Pro424_Pro425dup, XP_047287795.1:p.Pro424_Pro425dup

Select item 148968999612.

rs1489689996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:99501581 (GRCh38)
14:99967918 (GRCh37)
Canonical SPDI:: NC_000014.9:99501580:C:A,NC_000014.9:99501580:C:T
Gene:: CCNK (Varview), CCDC85C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.99501581C>A, NC_000014.9:g.99501581C>T, NC_000014.8:g.99967918C>A, NC_000014.8:g.99967918C>T, NM_001144995.2:c.*13665G>T, NM_001144995.2:c.*13665G>A

Select item 148955823213.

rs1489558232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:99511588 (GRCh38)
14:99977925 (GRCh37)
Canonical SPDI:: NC_000014.9:99511587:G:A
Gene:: CCNK (Varview), CCDC85C (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.99511588G>A, NC_000014.8:g.99977925G>A, XM_005268154.5:c.*806G>A, NM_001144995.2:c.*3658C>T, NM_001144995.1:c.*3658C>T, NM_001099402.2:c.*806G>A, XM_047431839.1:c.*806G>A, NM_022747.1:c.362C>T

Select item 148942608514.

rs1489426085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:99486845 (GRCh38)
14:99953182 (GRCh37)
Canonical SPDI:: NC_000014.9:99486844:T:C
Gene:: CCNK (Varview), SETD3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.99486845T>C, NC_000014.8:g.99953182T>C

Select item 148925825415.

rs1489258254 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:99498904 (GRCh38)
14:99965241 (GRCh37)
Canonical SPDI:: NC_000014.9:99498903:T:C
Gene:: CCNK (Varview)
Functional Consequence:: 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_000014.9:g.99498904T>C, NC_000014.8:g.99965241T>C

Select item 148896000616.

rs1488960006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:99490529 (GRCh38)
14:99956866 (GRCh37)
Canonical SPDI:: NC_000014.9:99490528:A:G
Gene:: CCNK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.99490529A>G, NC_000014.8:g.99956866A>G

Select item 148890816517.

rs1488908165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:99498548 (GRCh38)
14:99964885 (GRCh37)
Canonical SPDI:: NC_000014.9:99498547:C:T
Gene:: CCNK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.99498548C>T, NC_000014.8:g.99964885C>T

Select item 148872952618.

rs1488729526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:99494418 (GRCh38)
14:99960755 (GRCh37)
Canonical SPDI:: NC_000014.9:99494417:A:G
Gene:: CCNK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.99494418A>G, NC_000014.8:g.99960755A>G

Select item 148861352119.

rs1488613521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:99489494 (GRCh38)
14:99955831 (GRCh37)
Canonical SPDI:: NC_000014.9:99489493:C:T
Gene:: CCNK (Varview)
Functional Consequence:: intron_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_000014.9:g.99489494C>T, NC_000014.8:g.99955831C>T

Select item 148846080420.

rs1488460804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:99503131 (GRCh38)
14:99969468 (GRCh37)
Canonical SPDI:: NC_000014.9:99503130:G:A
Gene:: CCNK (Varview), CCDC85C (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.99503131G>A, NC_000014.8:g.99969468G>A, NM_001144995.2:c.*12115C>T