SNP Links for Gene (Select 348) - SNP

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Select item 14905213601.

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 14903742712.

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 14899886293.

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 14893592464.

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 14887889385.

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 14887708096.

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 14883799107.

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 14881645908.

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 14867601079.

rs1486760107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:44909230 (GRCh38)
19:45412487 (GRCh37)
Canonical SPDI:: NC_000019.10:44909229:G:T
Gene:: APOE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.44909230G>T, NC_000019.9:g.45412487G>T, NG_007084.2:g.8449G>T, NM_000041.4:c.934G>T, NM_000041.3:c.934G>T, NM_000041.2:c.934G>T, NM_001302688.2:c.1012G>T, NM_001302688.1:c.1012G>T, NM_001302690.2:c.934G>T, NM_001302690.1:c.934G>T, NM_001302691.2:c.934G>T, NM_001302691.1:c.934G>T, NM_001302689.2:c.934G>T, NM_001302689.1:c.934G>T, NP_000032.1:p.Val312Leu, NP_001289617.1:p.Val338Leu, NP_001289619.1:p.Val312Leu, NP_001289620.1:p.Val312Leu, NP_001289618.1:p.Val312Leu

Select item 148667796310.

rs1486677963 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCCG [Show Flanks]
Chromosome:: 19:44906025 (GRCh38)
19:45409283 (GRCh37)
Canonical SPDI:: NC_000019.10:44906025:CGACCCGACCCG:CGACCCGACCCGACCCG
Gene:: APOE (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CGACCCGACCCGACCCG=0./0 (ALFA)
CGACC=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44906028ACCCG[3], NC_000019.9:g.45409285ACCCG[3], NG_007084.2:g.5247ACCCG[3], NM_001302689.2:c.-40ACCCG[3], NM_001302689.1:c.-40ACCCG[3]

Select item 148657841811.

rs1486578418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44906916 (GRCh38)
19:45410173 (GRCh37)
Canonical SPDI:: NC_000019.10:44906915:T:C
Gene:: APOE (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_000019.10:g.44906916T>C, NC_000019.9:g.45410173T>C, NG_007084.2:g.6135T>C

Select item 148617831912.

rs1486178319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44906838 (GRCh38)
19:45410095 (GRCh37)
Canonical SPDI:: NC_000019.10:44906837:T:C
Gene:: APOE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.44906838T>C, NC_000019.9:g.45410095T>C, NG_007084.2:g.6057T>C

Select item 148608152513.

rs1486081525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:44907730 (GRCh38)
19:45410987 (GRCh37)
Canonical SPDI:: NC_000019.10:44907729:C:A,NC_000019.10:44907729:C:T
Gene:: APOE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.44907730C>A, NC_000019.10:g.44907730C>T, NC_000019.9:g.45410987C>A, NC_000019.9:g.45410987C>T, NG_007084.2:g.6949C>A, NG_007084.2:g.6949C>T

Select item 148600605014.

rs1486006050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:44907987 (GRCh38)
19:45411244 (GRCh37)
Canonical SPDI:: NC_000019.10:44907986:G:A,NC_000019.10:44907986:G:C
Gene:: APOE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44907987G>A, NC_000019.10:g.44907987G>C, NC_000019.9:g.45411244G>A, NC_000019.9:g.45411244G>C, NG_007084.2:g.7206G>A, NG_007084.2:g.7206G>C

Select item 148548161015.

rs1485481610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44909346 (GRCh38)
19:45412603 (GRCh37)
Canonical SPDI:: NC_000019.10:44909345:C:T
Gene:: APOE (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.44909346C>T, NC_000019.9:g.45412603C>T, NG_007084.2:g.8565C>T, NM_000041.4:c.*96C>T, NM_000041.3:c.*96C>T, NM_000041.2:c.*96C>T, NM_001302688.2:c.*96C>T, NM_001302688.1:c.*96C>T, NM_001302690.2:c.*96C>T, NM_001302690.1:c.*96C>T, NM_001302691.2:c.*96C>T, NM_001302691.1:c.*96C>T, NM_001302689.2:c.*96C>T, NM_001302689.1:c.*96C>T

Select item 148465345516.

rs1484653455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44905526 (GRCh38)
19:45408783 (GRCh37)
Canonical SPDI:: NC_000019.10:44905525:A:G
Gene:: APOE (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.44905526A>G, NC_000019.9:g.45408783A>G, NG_007084.2:g.4745A>G, NG_042854.1:g.19307A>G

Select item 148460184017.

rs1484601840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:44906455 (GRCh38)
19:45409712 (GRCh37)
Canonical SPDI:: NC_000019.10:44906454:G:A,NC_000019.10:44906454:G:T
Gene:: APOE (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.44906455G>A, NC_000019.10:g.44906455G>T, NC_000019.9:g.45409712G>A, NC_000019.9:g.45409712G>T, NG_007084.2:g.5674G>A, NG_007084.2:g.5674G>T, NM_001302690.2:c.-93G>A, NM_001302690.2:c.-93G>T, NM_001302690.1:c.-93G>A, NM_001302690.1:c.-93G>T

Select item 148401921218.

rs1484019212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:44905215 (GRCh38)
19:45408472 (GRCh37)
Canonical SPDI:: NC_000019.10:44905214:G:A,NC_000019.10:44905214:G:C
Gene:: APOE (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44905215G>A, NC_000019.10:g.44905215G>C, NC_000019.9:g.45408472G>A, NC_000019.9:g.45408472G>C, NG_007084.2:g.4434G>A, NG_007084.2:g.4434G>C, NG_042854.1:g.18996G>A, NG_042854.1:g.18996G>C

Select item 148378268119.

rs1483782681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44907546 (GRCh38)
19:45410803 (GRCh37)
Canonical SPDI:: NC_000019.10:44907545:A:G
Gene:: APOE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000071/1 (TOMMO)
G=0.001027/3 (KOREAN)
HGVS:: NC_000019.10:g.44907546A>G, NC_000019.9:g.45410803A>G, NG_007084.2:g.6765A>G

Select item 148369557220.

rs1483695572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:44904443 (GRCh38)
19:45407700 (GRCh37)
Canonical SPDI:: NC_000019.10:44904442:A:G
Gene:: APOE (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000064/9 (GnomAD)
HGVS:: NC_000019.10:g.44904443A>G, NC_000019.9:g.45407700A>G, NG_007084.2:g.3662A>G, NG_042854.1:g.18224A>G

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