SNP Links for Gene (Select 107984813) - SNP

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Items: 1 to 20 of 2135

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Select item 14909157531.

rs1490915753 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 16:67566580 (GRCh38)
16:67600483 (GRCh37)
Canonical SPDI:: NC_000016.10:67566579:T:A,NC_000016.10:67566579:T:G
Gene:: CTCF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.67566580T>A, NC_000016.10:g.67566580T>G, NC_000016.9:g.67600483T>A, NC_000016.9:g.67600483T>G, NG_033892.1:g.9174T>A, NG_033892.1:g.9174T>G

Select item 14907666872.

rs1490766687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67562021 (GRCh38)
16:67595924 (GRCh37)
Canonical SPDI:: NC_000016.10:67562020:G:A
Gene:: CTCF (Varview), CTCF-DT (Varview), LOC124903703 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67562021G>A, NC_000016.9:g.67595924G>A, NG_033892.1:g.4615G>A, NR_158165.1:n.289C>T

Select item 14907151773.

rs1490715177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:67561093 (GRCh38)
16:67594996 (GRCh37)
Canonical SPDI:: NC_000016.10:67561092:A:C
Gene:: CTCF (Varview), CTCF-DT (Varview), LOC124903703 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67561093A>C, NC_000016.9:g.67594996A>C, NG_033892.1:g.3687A>C

Select item 14899503604.

rs1489950360 [Homo sapiens]

Variant type:: DEL
Alleles:: GGC>- [Show Flanks]
Chromosome:: 16:67561582 (GRCh38)
16:67595485 (GRCh37)
Canonical SPDI:: NC_000016.10:67561581:GGC:
Gene:: CTCF (Varview), CTCF-DT (Varview), LOC124903703 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67561582_67561584del, NC_000016.9:g.67595485_67595487del, NG_033892.1:g.4176_4178del, NR_158165.1:n.726_728del

Select item 14895656935.

rs1489565693 has merged into rs201956341 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:67565682 (GRCh38)
16:67599585 (GRCh37)
Canonical SPDI:: NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:67565673:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CTCF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.67565682_67565694del, NC_000016.10:g.67565685_67565694del, NC_000016.10:g.67565686_67565694del, NC_000016.10:g.67565687_67565694del, NC_000016.10:g.67565688_67565694del, NC_000016.10:g.67565689_67565694del, NC_000016.10:g.67565690_67565694del, NC_000016.10:g.67565691_67565694del, NC_000016.10:g.67565692_67565694del, NC_000016.10:g.67565693_67565694del, NC_000016.10:g.67565694del, NC_000016.10:g.67565694dup, NC_000016.10:g.67565693_67565694dup, NC_000016.10:g.67565692_67565694dup, NC_000016.10:g.67565691_67565694dup, NC_000016.10:g.67565690_67565694dup, NC_000016.10:g.67565689_67565694dup, NC_000016.10:g.67565694_67565695insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.67565694_67565695insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.67599585_67599597del, NC_000016.9:g.67599588_67599597del, NC_000016.9:g.67599589_67599597del, NC_000016.9:g.67599590_67599597del, NC_000016.9:g.67599591_67599597del, NC_000016.9:g.67599592_67599597del, NC_000016.9:g.67599593_67599597del, NC_000016.9:g.67599594_67599597del, NC_000016.9:g.67599595_67599597del, NC_000016.9:g.67599596_67599597del, NC_000016.9:g.67599597del, NC_000016.9:g.67599597dup, NC_000016.9:g.67599596_67599597dup, NC_000016.9:g.67599595_67599597dup, NC_000016.9:g.67599594_67599597dup, NC_000016.9:g.67599593_67599597dup, NC_000016.9:g.67599592_67599597dup, NC_000016.9:g.67599597_67599598insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.67599597_67599598insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033892.1:g.8276_8288del, NG_033892.1:g.8279_8288del, NG_033892.1:g.8280_8288del, NG_033892.1:g.8281_8288del, NG_033892.1:g.8282_8288del, NG_033892.1:g.8283_8288del, NG_033892.1:g.8284_8288del, NG_033892.1:g.8285_8288del, NG_033892.1:g.8286_8288del, NG_033892.1:g.8287_8288del, NG_033892.1:g.8288del, NG_033892.1:g.8288dup, NG_033892.1:g.8287_8288dup, NG_033892.1:g.8286_8288dup, NG_033892.1:g.8285_8288dup, NG_033892.1:g.8284_8288dup, NG_033892.1:g.8283_8288dup, NG_033892.1:g.8288_8289insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033892.1:g.8288_8289insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14892854866.

rs1489285486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67565288 (GRCh38)
16:67599191 (GRCh37)
Canonical SPDI:: NC_000016.10:67565287:C:T
Gene:: CTCF (Varview), LOC124903703 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.67565288C>T, NC_000016.9:g.67599191C>T, NG_033892.1:g.7882C>T

Select item 14892045287.

rs1489204528 [Homo sapiens]

Variant type:: DEL
Alleles:: TAGG>- [Show Flanks]
Chromosome:: 16:67562945 (GRCh38)
16:67596848 (GRCh37)
Canonical SPDI:: NC_000016.10:67562944:TAGG:
Gene:: CTCF (Varview), CTCF-DT (Varview), LOC124903703 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0017/29 (TOMMO)
HGVS:: NC_000016.10:g.67562945_67562948del, NC_000016.9:g.67596848_67596851del, NG_033892.1:g.5539_5542del

Select item 14888774548.

rs1488877454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67562341 (GRCh38)
16:67596244 (GRCh37)
Canonical SPDI:: NC_000016.10:67562340:G:A
Gene:: CTCF (Varview), CTCF-DT (Varview), LOC124903703 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.67562341G>A, NC_000016.9:g.67596244G>A, NG_033892.1:g.4935G>A

Select item 14888544549.

rs1488854454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67563528 (GRCh38)
16:67597431 (GRCh37)
Canonical SPDI:: NC_000016.10:67563527:C:T
Gene:: CTCF (Varview), CTCF-DT (Varview), LOC124903703 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_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_000016.10:g.67563528C>T, NC_000016.9:g.67597431C>T, NG_033892.1:g.6122C>T

Select item 148836560710.

rs1488365607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67565447 (GRCh38)
16:67599350 (GRCh37)
Canonical SPDI:: NC_000016.10:67565446:G:A
Gene:: CTCF (Varview), LOC124903703 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67565447G>A, NC_000016.9:g.67599350G>A, NG_033892.1:g.8041G>A

Select item 148820533111.

rs1488205331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:67565166 (GRCh38)
16:67599069 (GRCh37)
Canonical SPDI:: NC_000016.10:67565165:T:C
Gene:: CTCF (Varview), LOC124903703 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000016.10:g.67565166T>C, NC_000016.9:g.67599069T>C, NG_033892.1:g.7760T>C

Select item 148805987312.

rs1488059873 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 16:67567321 (GRCh38)
16:67601224 (GRCh37)
Canonical SPDI:: NC_000016.10:67567320:TTTTT:TTTT
Gene:: CTCF (Varview)
Functional Consequence:: intron_variant,genic_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_000016.10:g.67567325del, NC_000016.9:g.67601228del, NG_033892.1:g.9919del

Select item 148714714113.

rs1487147141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:67560758 (GRCh38)
16:67594661 (GRCh37)
Canonical SPDI:: NC_000016.10:67560757:G:C
Gene:: CTCF (Varview), LOC124903703 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67560758G>C, NC_000016.9:g.67594661G>C, NG_033892.1:g.3352G>C

Select item 148712705014.

rs1487127050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:67565449 (GRCh38)
16:67599352 (GRCh37)
Canonical SPDI:: NC_000016.10:67565448:A:C
Gene:: CTCF (Varview), LOC124903703 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67565449A>C, NC_000016.9:g.67599352A>C, NG_033892.1:g.8043A>C

Select item 148687391615.

rs1486873916 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:67563830 (GRCh38)
16:67597734 (GRCh37)
Canonical SPDI:: NC_000016.10:67563830:A:AA
Gene:: CTCF (Varview), CTCF-DT (Varview), LOC124903703 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67563831dup, NC_000016.9:g.67597734dup, NG_033892.1:g.6425dup

Select item 148610173316.

rs1486101733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:67562066 (GRCh38)
16:67595969 (GRCh37)
Canonical SPDI:: NC_000016.10:67562065:T:G
Gene:: CTCF (Varview), CTCF-DT (Varview), LOC124903703 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_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_000016.10:g.67562066T>G, NC_000016.9:g.67595969T>G, NG_033892.1:g.4660T>G, NR_158165.1:n.244A>C

Select item 148589978717.

rs1485899787 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:67566119 (GRCh38)
16:67600023 (GRCh37)
Canonical SPDI:: NC_000016.10:67566119:CCCC:CCCCC
Gene:: CTCF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.67566123dup, NC_000016.9:g.67600026dup, NG_033892.1:g.8717dup

Select item 148573169018.

rs1485731690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67563364 (GRCh38)
16:67597267 (GRCh37)
Canonical SPDI:: NC_000016.10:67563363:C:T
Gene:: CTCF (Varview), CTCF-DT (Varview), LOC124903703 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.67563364C>T, NC_000016.9:g.67597267C>T, NG_033892.1:g.5958C>T, XR_007065094.1:n.87G>A

Select item 148521355719.

rs1485213557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:67563736 (GRCh38)
16:67597639 (GRCh37)
Canonical SPDI:: NC_000016.10:67563735:A:C
Gene:: CTCF (Varview), CTCF-DT (Varview), LOC124903703 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67563736A>C, NC_000016.9:g.67597639A>C, NG_033892.1:g.6330A>C

Select item 148481273920.

rs1484812739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67567073 (GRCh38)
16:67600976 (GRCh37)
Canonical SPDI:: NC_000016.10:67567072:C:G
Gene:: CTCF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.67567073C>G, NC_000016.9:g.67600976C>G, NG_033892.1:g.9667C>G

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