SNP Links for Gene (Select 8099) - SNP

Links from Gene

Items: 1 to 20 of 3722

<< First< Prev

Page of 187

Next >Last >>

Select item 14914722541.

rs1491472254 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:123272652 (GRCh38)
12:123757200 (GRCh37)
Canonical SPDI:: NC_000012.12:123272652::G
Gene:: CDK2AP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
G=0.00017/5 (GnomAD)
HGVS:: NC_000012.12:g.123272652_123272653insG, NC_000012.11:g.123757199_123757200insG

Select item 14912655472.

rs1491265547 has merged into rs140877931 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 12:123272662 (GRCh38)
12:123757209 (GRCh37)
Canonical SPDI:: NC_000012.12:123272651:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:123272651:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:123272651:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:123272651:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:123272651:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:123272651:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: CDK2AP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.35/14 (GENOME_DK)
T=0.4844/2426 (1000Genomes)
HGVS:: NC_000012.12:g.123272662_123272665del, NC_000012.12:g.123272663_123272665del, NC_000012.12:g.123272664_123272665del, NC_000012.12:g.123272665del, NC_000012.12:g.123272665dup, NC_000012.12:g.123272664_123272665dup, NC_000012.11:g.123757209_123757212del, NC_000012.11:g.123757210_123757212del, NC_000012.11:g.123757211_123757212del, NC_000012.11:g.123757212del, NC_000012.11:g.123757212dup, NC_000012.11:g.123757211_123757212dup

Select item 14909964623.

rs1490996462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123263194 (GRCh38)
12:123747741 (GRCh37)
Canonical SPDI:: NC_000012.12:123263193:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.123263194G>A, NC_000012.11:g.123747741G>A

Select item 14907121364.

rs1490712136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123274245 (GRCh38)
12:123758792 (GRCh37)
Canonical SPDI:: NC_000012.12:123274244:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.123274245C>T, NC_000012.11:g.123758792C>T

Select item 14904210355.

rs1490421035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:123260842 (GRCh38)
12:123745389 (GRCh37)
Canonical SPDI:: NC_000012.12:123260841:T:C
Gene:: CDK2AP1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.123260842T>C, NC_000012.11:g.123745389T>C

Select item 14902769236.

rs1490276923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123274048 (GRCh38)
12:123758595 (GRCh37)
Canonical SPDI:: NC_000012.12:123274047:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: 2KB_upstream_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)
HGVS:: NC_000012.12:g.123274048G>A, NC_000012.11:g.123758595G>A

Select item 14901764157.

rs1490176415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:123273916 (GRCh38)
12:123758463 (GRCh37)
Canonical SPDI:: NC_000012.12:123273915:T:C
Gene:: CDK2AP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.123273916T>C, NC_000012.11:g.123758463T>C

Select item 14901096128.

rs1490109612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:123272941 (GRCh38)
12:123757488 (GRCh37)
Canonical SPDI:: NC_000012.12:123272940:T:G
Gene:: CDK2AP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.123272941T>G, NC_000012.11:g.123757488T>G

Select item 14899455469.

rs1489945546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:123272529 (GRCh38)
12:123757076 (GRCh37)
Canonical SPDI:: NC_000012.12:123272528:A:C,NC_000012.12:123272528:A:G
Gene:: CDK2AP1 (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)
G=0.000106/2 (TOMMO)
HGVS:: NC_000012.12:g.123272529A>C, NC_000012.12:g.123272529A>G, NC_000012.11:g.123757076A>C, NC_000012.11:g.123757076A>G

Select item 148983239310.

rs1489832393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:123267374 (GRCh38)
12:123751921 (GRCh37)
Canonical SPDI:: NC_000012.12:123267373:C:A,NC_000012.12:123267373:C:T
Gene:: CDK2AP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00034/1 (KOREAN)
HGVS:: NC_000012.12:g.123267374C>A, NC_000012.12:g.123267374C>T, NC_000012.11:g.123751921C>A, NC_000012.11:g.123751921C>T

Select item 148958710311.

rs1489587103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123261812 (GRCh38)
12:123746359 (GRCh37)
Canonical SPDI:: NC_000012.12:123261811:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.123261812G>A, NC_000012.11:g.123746359G>A

Select item 148938889612.

rs1489388896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:123270214 (GRCh38)
12:123754761 (GRCh37)
Canonical SPDI:: NC_000012.12:123270213:C:G
Gene:: CDK2AP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.123270214C>G, NC_000012.11:g.123754761C>G, NM_001270433.2:c.-67G>C, NM_001270433.1:c.-67G>C

Select item 148926047013.

rs1489260470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:123264351 (GRCh38)
12:123748898 (GRCh37)
Canonical SPDI:: NC_000012.12:123264350:T:G
Gene:: CDK2AP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.123264351T>G, NC_000012.11:g.123748898T>G

Select item 148919870814.

rs1489198708 [Homo sapiens]

Variant type:: SNV:
Alleles:: CA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148885517015.

rs1488855170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:123263584 (GRCh38)
12:123748131 (GRCh37)
Canonical SPDI:: NC_000012.12:123263583:C:T
Gene:: CDK2AP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.123263584C>T, NC_000012.11:g.123748131C>T

Select item 148869624216.

rs1488696242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123269892 (GRCh38)
12:123754439 (GRCh37)
Canonical SPDI:: NC_000012.12:123269891:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000012.12:g.123269892G>A, NC_000012.11:g.123754439G>A

Select item 148857244117.

rs1488572441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123271250 (GRCh38)
12:123755797 (GRCh37)
Canonical SPDI:: NC_000012.12:123271249:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.123271250G>A, NC_000012.11:g.123755797G>A, NR_073008.2:n.2C>T

Select item 148783932918.

rs1487839329 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:123261144 (GRCh38)
12:123745692 (GRCh37)
Canonical SPDI:: NC_000012.12:123261144:T:TT
Gene:: CDK2AP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.123261145dup, NC_000012.11:g.123745692dup, NM_004642.4:c.*591dup, NM_004642.3:c.*591dup, NR_073008.2:n.1249dup, NR_073008.1:n.1100dup, NM_001270434.2:c.*591dup, NM_001270434.1:c.*591dup, NM_001270433.2:c.*591dup, NM_001270433.1:c.*591dup, NR_073007.2:n.968dup, NR_073007.1:n.1044dup

Select item 148778595019.

rs1487785950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123269151 (GRCh38)
12:123753698 (GRCh37)
Canonical SPDI:: NC_000012.12:123269150:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000012.12:g.123269151G>A, NC_000012.11:g.123753698G>A

Select item 148777812120.

rs1487778121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:123264054 (GRCh38)
12:123748601 (GRCh37)
Canonical SPDI:: NC_000012.12:123264053:G:A
Gene:: CDK2AP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001119/5 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.123264054G>A, NC_000012.11:g.123748601G>A

<< First< Prev

Page of 187

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 3722

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity