SNP Links for Gene (Select 3646) - SNP

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Select item 14915831841.

rs1491583184 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:108226191 (GRCh38)
8:109238420 (GRCh37)
Canonical SPDI:: NC_000008.11:108226189:TCT:T
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00007/2 (TOMMO)
HGVS:: NC_000008.11:g.108226191_108226192del, NC_000008.10:g.109238420_109238421del

Select item 14915377652.

rs1491537765 has merged into rs563421733 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:108245129 (GRCh38)
8:109257359 (GRCh37)
Canonical SPDI:: NC_000008.11:108245129:T:TT
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.001559/209 (GnomAD)
HGVS:: NC_000008.11:g.108245130dup, NC_000008.10:g.109257359dup

Select item 14915045813.

rs1491504581 has merged into rs371217842 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGGG>-,GGGGGG,GGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGGG [Show Flanks]
Chromosome:: 8:108248029 (GRCh38)
8:109260258 (GRCh37)
Canonical SPDI:: NC_000008.11:108248025:GGGGGGGGGGG:GGG,NC_000008.11:108248025:GGGGGGGGGGG:GGGGGGGGG,NC_000008.11:108248025:GGGGGGGGGGG:GGGGGGGGGG,NC_000008.11:108248025:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000008.11:108248025:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000008.11:108248025:GGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000008.11:g.108248029_108248036del, NC_000008.11:g.108248035_108248036del, NC_000008.11:g.108248036del, NC_000008.11:g.108248036dup, NC_000008.11:g.108248035_108248036dup, NC_000008.11:g.108248033_108248036dup, NC_000008.10:g.109260258_109260265del, NC_000008.10:g.109260264_109260265del, NC_000008.10:g.109260265del, NC_000008.10:g.109260265dup, NC_000008.10:g.109260264_109260265dup, NC_000008.10:g.109260262_109260265dup

Select item 14914695754.

rs1491469575 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:108211055 (GRCh38)
8:109223285 (GRCh37)
Canonical SPDI:: NC_000008.11:108211055:T:TT
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.108211056dup, NC_000008.10:g.109223285dup

Select item 14914283635.

rs1491428363 has merged into rs11358208 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 8:108217310 (GRCh38)
8:109229539 (GRCh37)
Canonical SPDI:: NC_000008.11:108217300:AAAAAAAAAAA:AAAAAAAAA,NC_000008.11:108217300:AAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:108217300:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:108217300:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.002806/46 (ALFA)
A=0.4/16 (GENOME_DK)
A=0.426483/41548 (GnomAD_exomes)
-=0.44/264 (NorthernSweden)
-=0.44214/810 (Korea1K)
-=0.448884/1730 (ALSPAC)
-=0.46548/1726 (TWINSUK)
A=0.469376/2345 (1000Genomes)
-=0.485972/485 (GoNL)
A=0.486788/128848 (TOPMED)
HGVS:: NC_000008.11:g.108217310_108217311del, NC_000008.11:g.108217311del, NC_000008.11:g.108217311dup, NC_000008.11:g.108217310_108217311dup, NC_000008.10:g.109229539_109229540del, NC_000008.10:g.109229540del, NC_000008.10:g.109229540dup, NC_000008.10:g.109229539_109229540dup

Select item 14914100726.

rs1491410072 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:108226190 (GRCh38)
8:109238420 (GRCh37)
Canonical SPDI:: NC_000008.11:108226190:C:CC
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.108226191dup, NC_000008.10:g.109238420dup

Select item 14914074197.

rs1491407419 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 8:108248025 (GRCh38)
8:109260254 (GRCh37)
Canonical SPDI:: NC_000008.11:108248024:TG:
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.108248025_108248026del, NC_000008.10:g.109260254_109260255del

Select item 14913827098.

rs1491382709 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:108234981 (GRCh38)
8:109247210 (GRCh37)
Canonical SPDI:: NC_000008.11:108234979:ACA:A
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000069/7 (ExAC)
HGVS:: NC_000008.11:g.108234981_108234982del, NC_000008.10:g.109247210_109247211del

Select item 14913108759.

rs1491310875 has merged into rs1554599509 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC,ACACAC,ACACACAC,ACACACACAC [Show Flanks]
Chromosome:: 8:108221804 (GRCh38)
8:109234033 (GRCh37)
Canonical SPDI:: NC_000008.11:108221795:ACACACACAC:ACACACAC,NC_000008.11:108221795:ACACACACAC:ACACACACACAC,NC_000008.11:108221795:ACACACACAC:ACACACACACACAC,NC_000008.11:108221795:ACACACACAC:ACACACACACACACAC,NC_000008.11:108221795:ACACACACAC:ACACACACACACACACAC
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACAC=0./0 (ALFA)
-=0.00004/1 (TOMMO)
ACACAC=0.15318/568 (TWINSUK)
ACACAC=0.1754/676 (ALSPAC)
HGVS:: NC_000008.11:g.108221796AC[4], NC_000008.11:g.108221796AC[6], NC_000008.11:g.108221796AC[7], NC_000008.11:g.108221796AC[8], NC_000008.11:g.108221796AC[9], NC_000008.10:g.109234025AC[4], NC_000008.10:g.109234025AC[6], NC_000008.10:g.109234025AC[7], NC_000008.10:g.109234025AC[8], NC_000008.10:g.109234025AC[9]

Select item 149130037010.

rs1491300370 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 8:108204732 (GRCh38)
8:109216962 (GRCh37)
Canonical SPDI:: NC_000008.11:108204732:A:ACA
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: AC=0.00003/1 (GnomAD)
HGVS:: NC_000008.11:g.108204733_108204734insCA, NC_000008.10:g.109216962_109216963insCA

Select item 149128323911.

rs1491283239 has merged into rs148053969 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 8:108204740 (GRCh38)
8:109216969 (GRCh37)
Canonical SPDI:: NC_000008.11:108204731:TATATATATATATATA:TATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:108204731:TATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
TA=0.125/5 (GENOME_DK)
HGVS:: NC_000008.11:g.108204732TA[4], NC_000008.11:g.108204732TA[5], NC_000008.11:g.108204732TA[6], NC_000008.11:g.108204732TA[7], NC_000008.11:g.108204732TA[9], NC_000008.11:g.108204732TA[10], NC_000008.11:g.108204732TA[11], NC_000008.11:g.108204732TA[12], NC_000008.11:g.108204732TA[13], NC_000008.11:g.108204732TA[14], NC_000008.11:g.108204732TA[15], NC_000008.11:g.108204732TA[16], NC_000008.11:g.108204732TA[17], NC_000008.11:g.108204732TA[18], NC_000008.11:g.108204732TA[19], NC_000008.11:g.108204732TA[20], NC_000008.11:g.108204732TA[21], NC_000008.11:g.108204732TA[22], NC_000008.10:g.109216961TA[4], NC_000008.10:g.109216961TA[5], NC_000008.10:g.109216961TA[6], NC_000008.10:g.109216961TA[7], NC_000008.10:g.109216961TA[9], NC_000008.10:g.109216961TA[10], NC_000008.10:g.109216961TA[11], NC_000008.10:g.109216961TA[12], NC_000008.10:g.109216961TA[13], NC_000008.10:g.109216961TA[14], NC_000008.10:g.109216961TA[15], NC_000008.10:g.109216961TA[16], NC_000008.10:g.109216961TA[17], NC_000008.10:g.109216961TA[18], NC_000008.10:g.109216961TA[19], NC_000008.10:g.109216961TA[20], NC_000008.10:g.109216961TA[21], NC_000008.10:g.109216961TA[22]

Select item 149128035112.

rs1491280351 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AACA [Show Flanks]
Chromosome:: 8:108221807 (GRCh38)
8:109234037 (GRCh37)
Canonical SPDI:: NC_000008.11:108221807:ACA:ACAAACA
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: ACAA=0.000022/3 (GnomAD)
HGVS:: NC_000008.11:g.108221810_108221811insAACA, NC_000008.10:g.109234039_109234040insAACA

Select item 149120341213.

rs1491203412 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:108246285 (GRCh38)
8:109258515 (GRCh37)
Canonical SPDI:: NC_000008.11:108246285::T
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.108246285_108246286insT, NC_000008.10:g.109258514_109258515insT

Select item 149118555614.

rs1491185556 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:108234960 (GRCh38)
8:109247189 (GRCh37)
Canonical SPDI:: NC_000008.11:108234958:ACA:A
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/3 (ALFA)
HGVS:: NC_000008.11:g.108234960_108234961del, NC_000008.10:g.109247189_109247190del

Select item 149115736115.

rs1491157361 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:108234959 (GRCh38)
8:109247189 (GRCh37)
Canonical SPDI:: NC_000008.11:108234959:C:CC
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.00003/2 (GnomAD)
HGVS:: NC_000008.11:g.108234960dup, NC_000008.10:g.109247189dup

Select item 149114823616.

rs1491148236 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:108211057 (GRCh38)
8:109223286 (GRCh37)
Canonical SPDI:: NC_000008.11:108211054:ATAT:AT
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.108211055AT[1], NC_000008.10:g.109223284AT[1]

Select item 149109995917.

rs1491099959 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATATATATATA [Show Flanks]
Chromosome:: 8:108201266 (GRCh38)
8:109213496 (GRCh37)
Canonical SPDI:: NC_000008.11:108201266::ATATATATATA
Gene:: EIF3E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: ATATATATATA=0.000064/8 (GnomAD)
HGVS:: NC_000008.11:g.108201266_108201267insATATATATATA, NC_000008.10:g.109213495_109213496insATATATATATA, NM_001568.3:c.*618_*619insTATATATATAT

Select item 149098552118.

rs1490985521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:108209819 (GRCh38)
8:109222048 (GRCh37)
Canonical SPDI:: NC_000008.11:108209818:A:C
Gene:: EIF3E (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_000008.11:g.108209819A>C, NC_000008.10:g.109222048A>C

Select item 149093754019.

rs1490937540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:108240356 (GRCh38)
8:109252585 (GRCh37)
Canonical SPDI:: NC_000008.11:108240355:G:A
Gene:: EIF3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0013/6 (ALFA)
A=0.0013/6 (Estonian)
HGVS:: NC_000008.11:g.108240356G>A, NC_000008.10:g.109252585G>A

Select item 149076177720.

rs1490761777 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 8:108201873 (GRCh38)
8:109214102 (GRCh37)
Canonical SPDI:: NC_000008.11:108201869:TTTCTTT:TTT
Gene:: EIF3E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000008.11:g.108201873_108201876del, NC_000008.10:g.109214102_109214105del, NM_001568.3:c.*12_*15del, NM_001568.2:c.*12_*15del

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