SNP Links for Nucleotide (Select 163954918) - SNP

Links from Nucleotide

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14908953281.

rs1490895328 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44910591 (GRCh38)
19:45413848 (GRCh37)
Canonical SPDI:: NC_000019.10:44910590:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.44910591C>T, NC_000019.9:g.45413848C>T, NG_007084.2:g.9810C>T, NG_012859.1:g.928C>T

Select item 14908882162.

rs1490888216 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:44911054 (GRCh38)
19:45414312 (GRCh37)
Canonical SPDI:: NC_000019.10:44911054:C:CC
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.44911055dup, NC_000019.9:g.45414312dup, NG_007084.2:g.10274dup, NG_012859.1:g.1392dup

Select item 14905448023.

rs1490544802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44903338 (GRCh38)
19:45406595 (GRCh37)
Canonical SPDI:: NC_000019.10:44903337:T:C
Gene:: TOMM40 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.44903338T>C, NC_000019.9:g.45406595T>C, NG_007084.2:g.2557T>C, NG_042854.1:g.17119T>C, NM_006114.3:c.*169T>C, NM_006114.2:c.*169T>C, NM_001128917.2:c.*169T>C, NM_001128917.1:c.*169T>C, NM_001128916.2:c.*169T>C, NM_001128916.1:c.*169T>C

Select item 14905213604.

rs1490521360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:44903934 (GRCh38)
19:45407191 (GRCh37)
Canonical SPDI:: NC_000019.10:44903933:G:A,NC_000019.10:44903933:G:T
Gene:: APOE (Varview), TOMM40 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.44903934G>A, NC_000019.10:g.44903934G>T, NC_000019.9:g.45407191G>A, NC_000019.9:g.45407191G>T, NG_007084.2:g.3153G>A, NG_007084.2:g.3153G>T, NG_042854.1:g.17715G>A, NG_042854.1:g.17715G>T

Select item 14903742715.

rs1490374271 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCCTCAGCGCCATCCGCGAGCGC [Show Flanks]
Chromosome:: 19:44908859 (GRCh38)
19:45412117 (GRCh37)
Canonical SPDI:: NC_000019.10:44908859:CGAGCGCGGCCTCAGCGCCATCCGCGAGCGC:CGAGCGCGGCCTCAGCGCCATCCGCGAGCGCGGCCTCAGCGCCATCCGCGAGCGC
Gene:: APOE (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGAGCGCGGCCTCAGCGCCATCCGCGAGCGCGGCCTCAGCGCCATCCGCGAGCGC=0.000071/1 (ALFA)
CGAGCGCGGCCTCAGCGCCATCCG=0.000004/1 (TOPMED)
CGAGCGCGGCCTCAGCGCCATCCG=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.44908867_44908890dup, NC_000019.9:g.45412124_45412147dup, NG_007084.2:g.8086_8109dup, NM_000041.4:c.571_594dup, NM_000041.3:c.571_594dup, NM_000041.2:c.571_594dup, NM_001302688.2:c.649_672dup, NM_001302688.1:c.649_672dup, NM_001302690.2:c.571_594dup, NM_001302690.1:c.571_594dup, NM_001302691.2:c.571_594dup, NM_001302691.1:c.571_594dup, NM_001302689.2:c.571_594dup, NM_001302689.1:c.571_594dup, NP_000032.1:p.Gly191_Arg198dup, NP_001289617.1:p.Gly217_Arg224dup, NP_001289619.1:p.Gly191_Arg198dup, NP_001289620.1:p.Gly191_Arg198dup, NP_001289618.1:p.Gly191_Arg198dup

Select item 14900756976.

rs1490075697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44910213 (GRCh38)
19:45413470 (GRCh37)
Canonical SPDI:: NC_000019.10:44910212:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44910213C>T, NC_000019.9:g.45413470C>T, NG_007084.2:g.9432C>T, NG_012859.1:g.550C>T

Select item 14900695227.

rs1490069522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:44910400 (GRCh38)
19:45413657 (GRCh37)
Canonical SPDI:: NC_000019.10:44910399:A:C
Validated:: by frequency,by cluster
MAF:: C=0.00087/14 (TOMMO)
C=0.03082/90 (KOREAN)
HGVS:: NC_000019.10:g.44910400A>C, NC_000019.9:g.45413657A>C, NG_007084.2:g.9619A>C, NG_012859.1:g.737A>C

Select item 14899886298.

rs1489988629 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 19:44908403 (GRCh38)
19:45411660 (GRCh37)
Canonical SPDI:: NC_000019.10:44908400:CTTCT:CT
Gene:: APOE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44908403_44908405del, NC_000019.9:g.45411660_45411662del, NG_007084.2:g.7622_7624del

Select item 14896628649.

rs1489662864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44902987 (GRCh38)
19:45406244 (GRCh37)
Canonical SPDI:: NC_000019.10:44902986:G:A
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.44902987G>A, NC_000019.9:g.45406244G>A, NG_007084.2:g.2206G>A, NG_042854.1:g.16768G>A, XM_005258411.5:c.*1538G>A, XM_047438057.1:c.*1538G>A

Select item 148935924610.

rs1489359246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44908728 (GRCh38)
19:45411985 (GRCh37)
Canonical SPDI:: NC_000019.10:44908727:C:T
Gene:: APOE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.44908728C>T, NC_000019.9:g.45411985C>T, NG_007084.2:g.7947C>T, NM_000041.4:c.432C>T, NM_000041.3:c.432C>T, NM_000041.2:c.432C>T, NM_001302688.2:c.510C>T, NM_001302688.1:c.510C>T, NM_001302690.2:c.432C>T, NM_001302690.1:c.432C>T, NM_001302691.2:c.432C>T, NM_001302691.1:c.432C>T, NM_001302689.2:c.432C>T, NM_001302689.1:c.432C>T

Select item 148902422411.

rs1489024224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:44901643 (GRCh38)
19:45404900 (GRCh37)
Canonical SPDI:: NC_000019.10:44901642:G:A,NC_000019.10:44901642:G:T
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000019.10:g.44901643G>A, NC_000019.10:g.44901643G>T, NC_000019.9:g.45404900G>A, NC_000019.9:g.45404900G>T, NG_007084.2:g.862G>A, NG_007084.2:g.862G>T, NG_042854.1:g.15424G>A, NG_042854.1:g.15424G>T, XM_005258411.5:c.*194G>A, XM_005258411.5:c.*194G>T, XM_047438057.1:c.*194G>A, XM_047438057.1:c.*194G>T

Select item 148878893812.

rs1488788938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:44906941 (GRCh38)
19:45410198 (GRCh37)
Canonical SPDI:: NC_000019.10:44906940:C:A,NC_000019.10:44906940:C:T
Gene:: APOE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44906941C>A, NC_000019.10:g.44906941C>T, NC_000019.9:g.45410198C>A, NC_000019.9:g.45410198C>T, NG_007084.2:g.6160C>A, NG_007084.2:g.6160C>T

Select item 148877080913.

rs1488770809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44904791 (GRCh38)
19:45408048 (GRCh37)
Canonical SPDI:: NC_000019.10:44904790:G:A
Gene:: APOE (Varview)
Functional Consequence:: 2KB_upstream_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_000019.10:g.44904791G>A, NC_000019.9:g.45408048G>A, NG_007084.2:g.4010G>A, NG_042854.1:g.18572G>A

Select item 148837991014.

rs1488379910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:44908948 (GRCh38)
19:45412205 (GRCh37)
Canonical SPDI:: NC_000019.10:44908947:G:A,NC_000019.10:44908947:G:C,NC_000019.10:44908947:G:T
Gene:: APOE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000019.10:g.44908948G>A, NC_000019.10:g.44908948G>C, NC_000019.10:g.44908948G>T, NC_000019.9:g.45412205G>A, NC_000019.9:g.45412205G>C, NC_000019.9:g.45412205G>T, NG_007084.2:g.8167G>A, NG_007084.2:g.8167G>C, NG_007084.2:g.8167G>T, NM_000041.4:c.652G>A, NM_000041.4:c.652G>C, NM_000041.4:c.652G>T, NM_000041.3:c.652G>A, NM_000041.3:c.652G>C, NM_000041.3:c.652G>T, NM_000041.2:c.652G>A, NM_000041.2:c.652G>C, NM_000041.2:c.652G>T, NM_001302688.2:c.730G>A, NM_001302688.2:c.730G>C, NM_001302688.2:c.730G>T, NM_001302688.1:c.730G>A, NM_001302688.1:c.730G>C, NM_001302688.1:c.730G>T, NM_001302690.2:c.652G>A, NM_001302690.2:c.652G>C, NM_001302690.2:c.652G>T, NM_001302690.1:c.652G>A, NM_001302690.1:c.652G>C, NM_001302690.1:c.652G>T, NM_001302691.2:c.652G>A, NM_001302691.2:c.652G>C, NM_001302691.2:c.652G>T, NM_001302691.1:c.652G>A, NM_001302691.1:c.652G>C, NM_001302691.1:c.652G>T, NM_001302689.2:c.652G>A, NM_001302689.2:c.652G>C, NM_001302689.2:c.652G>T, NM_001302689.1:c.652G>A, NM_001302689.1:c.652G>C, NM_001302689.1:c.652G>T, NP_000032.1:p.Gly218Ser, NP_000032.1:p.Gly218Arg, NP_000032.1:p.Gly218Cys, NP_001289617.1:p.Gly244Ser, NP_001289617.1:p.Gly244Arg, NP_001289617.1:p.Gly244Cys, NP_001289619.1:p.Gly218Ser, NP_001289619.1:p.Gly218Arg, NP_001289619.1:p.Gly218Cys, NP_001289620.1:p.Gly218Ser, NP_001289620.1:p.Gly218Arg, NP_001289620.1:p.Gly218Cys, NP_001289618.1:p.Gly218Ser, NP_001289618.1:p.Gly218Arg, NP_001289618.1:p.Gly218Cys

Select item 148816459015.

rs1488164590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44908468 (GRCh38)
19:45411725 (GRCh37)
Canonical SPDI:: NC_000019.10:44908467:C:T
Gene:: APOE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.44908468C>T, NC_000019.9:g.45411725C>T, NG_007084.2:g.7687C>T

Select item 148775300616.

rs1487753006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44902164 (GRCh38)
19:45405421 (GRCh37)
Canonical SPDI:: NC_000019.10:44902163:A:G
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.44902164A>G, NC_000019.9:g.45405421A>G, NG_007084.2:g.1383A>G, NG_042854.1:g.15945A>G, XM_005258411.5:c.*715A>G, XM_047438057.1:c.*715A>G

Select item 148769131317.

rs1487691313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44911182 (GRCh38)
19:45414439 (GRCh37)
Canonical SPDI:: NC_000019.10:44911181:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.44911182G>A, NC_000019.9:g.45414439G>A, NG_007084.2:g.10401G>A, NG_012859.1:g.1519G>A

Select item 148740641418.

rs1487406414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44903084 (GRCh38)
19:45406341 (GRCh37)
Canonical SPDI:: NC_000019.10:44903083:C:T
Gene:: TOMM40 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.44903084C>T, NC_000019.9:g.45406341C>T, NG_007084.2:g.2303C>T, NG_042854.1:g.16865C>T, NM_006114.3:c.1001C>T, NM_006114.2:c.1001C>T, NM_001128917.2:c.1001C>T, NM_001128917.1:c.1001C>T, NM_001128916.2:c.1001C>T, NM_001128916.1:c.1001C>T, NP_006105.1:p.Pro334Leu, NP_001122389.1:p.Pro334Leu, NP_001122388.1:p.Pro334Leu

Select item 148713537319.

rs1487135373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:44901330 (GRCh38)
19:45404587 (GRCh37)
Canonical SPDI:: NC_000019.10:44901329:T:G
Gene:: TOMM40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44901330T>G, NC_000019.9:g.45404587T>G, NG_007084.2:g.549T>G, NG_042854.1:g.15111T>G

Select item 148706059420.

rs1487060594 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAATAGAA [Show Flanks]
Chromosome:: 19:44910303 (GRCh38)
19:45413561 (GRCh37)
Canonical SPDI:: NC_000019.10:44910303:A:AGAATAGAA
Validated:: by frequency
MAF:: AGAATAGA=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.44910304_44910305insGAATAGAA, NC_000019.9:g.45413561_45413562insGAATAGAA, NG_007084.2:g.9523_9524insGAATAGAA, NG_012859.1:g.641_642insGAATAGAA

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity