SNP Links for Gene (Select 1869) - SNP

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Items: 1 to 20 of 3238

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Select item 14915009821.

rs1491500982 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:33676372 (GRCh38)
20:32264179 (GRCh37)
Canonical SPDI:: NC_000020.11:33676372:GG:GGG
Gene:: E2F1 (Varview), NECAB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.33676374dup, NC_000020.10:g.32264180dup, NG_046988.1:g.15032dup, NM_005225.3:c.*359dup, NM_005225.2:c.*359dup

Select item 14913307172.

rs1491330717 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 20:33676372 (GRCh38)
20:32264178 (GRCh37)
Canonical SPDI:: NC_000020.11:33676371:TG:
Gene:: E2F1 (Varview), NECAB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33676372_33676373del, NC_000020.10:g.32264178_32264179del, NG_046988.1:g.15032_15033del, NM_005225.3:c.*359_*360del, NM_005225.2:c.*359_*360del

Select item 14907962253.

rs1490796225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33678148 (GRCh38)
20:32265954 (GRCh37)
Canonical SPDI:: NC_000020.11:33678147:A:G
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33678148A>G, NC_000020.10:g.32265954A>G, NG_046988.1:g.13257T>C

Select item 14907679834.

rs1490767983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:33682839 (GRCh38)
20:32270645 (GRCh37)
Canonical SPDI:: NC_000020.11:33682838:C:G
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33682839C>G, NC_000020.10:g.32270645C>G, NG_046988.1:g.8566G>C

Select item 14904354125.

rs1490435412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:33686773 (GRCh38)
20:32274579 (GRCh37)
Canonical SPDI:: NC_000020.11:33686772:C:A
Gene:: E2F1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000020.11:g.33686773C>A, NC_000020.10:g.32274579C>A, NG_046988.1:g.4632G>T

Select item 14904004466.

rs1490400446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:33675282 (GRCh38)
20:32263088 (GRCh37)
Canonical SPDI:: NC_000020.11:33675281:G:T
Gene:: E2F1 (Varview), NECAB3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,500B_downstream_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_000020.11:g.33675282G>T, NC_000020.10:g.32263088G>T, NG_046988.1:g.16123C>A, XM_047440369.1:c.-457C>A, XM_047440370.1:c.-457C>A

Select item 14900226837.

rs1490022683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33676590 (GRCh38)
20:32264396 (GRCh37)
Canonical SPDI:: NC_000020.11:33676589:A:G
Gene:: E2F1 (Varview), NECAB3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_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_000020.11:g.33676590A>G, NC_000020.10:g.32264396A>G, NG_046988.1:g.14815T>C, NM_005225.3:c.*142T>C, NM_005225.2:c.*142T>C

Select item 14895491458.

rs1489549145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:33680567 (GRCh38)
20:32268373 (GRCh37)
Canonical SPDI:: NC_000020.11:33680566:T:C
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.33680567T>C, NC_000020.10:g.32268373T>C, NG_046988.1:g.10838A>G

Select item 14894484659.

rs1489448465 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 20:33681475 (GRCh38)
20:32269281 (GRCh37)
Canonical SPDI:: NC_000020.11:33681474:T:
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33681475del, NC_000020.10:g.32269281del, NG_046988.1:g.9930del

Select item 148839160410.

rs1488391604 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:33682280 (GRCh38)
20:32270086 (GRCh37)
Canonical SPDI:: NC_000020.11:33682279:GG:G
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33682281del, NC_000020.10:g.32270087del, NG_046988.1:g.9125del

Select item 148793882911.

rs1487938829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:33684789 (GRCh38)
20:32272595 (GRCh37)
Canonical SPDI:: NC_000020.11:33684788:G:C
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.33684789G>C, NC_000020.10:g.32272595G>C, NG_046988.1:g.6616C>G

Select item 148787991612.

rs1487879916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:33682595 (GRCh38)
20:32270401 (GRCh37)
Canonical SPDI:: NC_000020.11:33682594:A:C
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33682595A>C, NC_000020.10:g.32270401A>C, NG_046988.1:g.8810T>G

Select item 148785262813.

rs1487852628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33686210 (GRCh38)
20:32274016 (GRCh37)
Canonical SPDI:: NC_000020.11:33686209:G:A
Gene:: E2F1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33686210G>A, NC_000020.10:g.32274016G>A, NG_046988.1:g.5195C>T, NM_005225.3:c.55C>T, NM_005225.2:c.55C>T, XM_047439961.1:c.55C>T

Select item 148749165314.

rs1487491653 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 20:33682422 (GRCh38)
20:32270229 (GRCh37)
Canonical SPDI:: NC_000020.11:33682422:TT:TTTT
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
TT=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.33682423_33682424dup, NC_000020.10:g.32270229_32270230dup, NG_046988.1:g.8981_8982dup

Select item 148721259915.

rs1487212599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:33687429 (GRCh38)
20:32275235 (GRCh37)
Canonical SPDI:: NC_000020.11:33687428:G:C,NC_000020.11:33687428:G:T
Gene:: E2F1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33687429G>C, NC_000020.11:g.33687429G>T, NC_000020.10:g.32275235G>C, NC_000020.10:g.32275235G>T, NG_046988.1:g.3976C>G, NG_046988.1:g.3976C>A

Select item 148719282616.

rs1487192826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33681830 (GRCh38)
20:32269636 (GRCh37)
Canonical SPDI:: NC_000020.11:33681829:C:T
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.33681830C>T, NC_000020.10:g.32269636C>T, NG_046988.1:g.9575G>A

Select item 148689686717.

rs1486896867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:33683579 (GRCh38)
20:32271385 (GRCh37)
Canonical SPDI:: NC_000020.11:33683578:C:A
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.33683579C>A, NC_000020.10:g.32271385C>A, NG_046988.1:g.7826G>T

Select item 148651159218.

rs1486511592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33686076 (GRCh38)
20:32273882 (GRCh37)
Canonical SPDI:: NC_000020.11:33686075:C:T
Gene:: E2F1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000569/1 (Korea1K)
T=0.000708/12 (TOMMO)
T=0.001257/3 (KOREAN)
HGVS:: NC_000020.11:g.33686076C>T, NC_000020.10:g.32273882C>T, NG_046988.1:g.5329G>A, NM_005225.3:c.189G>A, NM_005225.2:c.189G>A, XM_047439961.1:c.189G>A

Select item 148597917319.

rs1485979173 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGCCATCAGCC [Show Flanks]
Chromosome:: 20:33686837 (GRCh38)
20:32274644 (GRCh37)
Canonical SPDI:: NC_000020.11:33686837:CAGCCCAGCCATCAGCC:CAGCCCAGCCATCAGCCCAGCCATCAGCC
Gene:: E2F1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGCCCAGCCATCAGCCCAGCCATCAGCC=0.000224/1 (ALFA)
CAGCCCAGCCAT=0.000007/1 (GnomAD)
CAGCCCAGCCAT=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.33686843_33686854dup, NC_000020.10:g.32274649_32274660dup, NG_046988.1:g.4556_4567dup

Select item 148592670920.

rs1485926709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:33678732 (GRCh38)
20:32266538 (GRCh37)
Canonical SPDI:: NC_000020.11:33678731:T:C
Gene:: E2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.33678732T>C, NC_000020.10:g.32266538T>C, NG_046988.1:g.12673A>G

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