SNP Links for Gene (Select 728689) - SNP

Links from Gene

Items: 1 to 20 of 2106

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Select item 14906670511.

rs1490667051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:28391872 (GRCh38)
16:28403193 (GRCh37)
Canonical SPDI:: NC_000016.10:28391871:C:A,NC_000016.10:28391871:C:T
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.28391872C>A, NC_000016.10:g.28391872C>T, NC_000016.9:g.28403193C>A, NC_000016.9:g.28403193C>T

Select item 14904464752.

rs1490446475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:28386210 (GRCh38)
16:28397531 (GRCh37)
Canonical SPDI:: NC_000016.10:28386209:T:C
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.02894/76 (KOREAN)
HGVS:: NC_000016.10:g.28386210T>C, NC_000016.9:g.28397531T>C

Select item 14896845033.

rs1489684503 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:28403034 (GRCh38)
16:28414355 (GRCh37)
Canonical SPDI:: NC_000016.10:28403033:T:A
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.28403034T>A, NC_000016.9:g.28414355T>A

Select item 14896124304.

rs1489612430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:28381594 (GRCh38)
16:28392915 (GRCh37)
Canonical SPDI:: NC_000016.10:28381593:T:C
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/1 (GnomAD)
HGVS:: NC_000016.10:g.28381594T>C, NC_000016.9:g.28392915T>C

Select item 14895821105.

rs1489582110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:28386816 (GRCh38)
16:28398137 (GRCh37)
Canonical SPDI:: NC_000016.10:28386815:G:C
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/1 (GnomAD)
HGVS:: NC_000016.10:g.28386816G>C, NC_000016.9:g.28398137G>C

Select item 14892194956.

rs1489219495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:28402665 (GRCh38)
16:28413986 (GRCh37)
Canonical SPDI:: NC_000016.10:28402664:T:A
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.28402665T>A, NC_000016.9:g.28413986T>A

Select item 14891170027.

rs1489117002 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:28396666 (GRCh38)
16:28407987 (GRCh37)
Canonical SPDI:: NC_000016.10:28396665:T:
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.28396666del, NC_000016.9:g.28407987del

Select item 14889475378.

rs1488947537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:28387387 (GRCh38)
16:28398708 (GRCh37)
Canonical SPDI:: NC_000016.10:28387386:G:A,NC_000016.10:28387386:G:C
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.28387387G>A, NC_000016.10:g.28387387G>C, NC_000016.9:g.28398708G>A, NC_000016.9:g.28398708G>C

Select item 14889398499.

rs1488939849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:28405722 (GRCh38)
16:28417043 (GRCh37)
Canonical SPDI:: NC_000016.10:28405721:A:G
Gene:: EIF3CL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000033/4 (GnomAD)
HGVS:: NC_000016.10:g.28405722A>G, NC_000016.9:g.28417043A>G

Select item 148889855110.

rs1488898551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28389513 (GRCh38)
16:28400834 (GRCh37)
Canonical SPDI:: NC_000016.10:28389512:C:T
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.02436/289 (ALFA)
T=0.00044/3 (GnomAD)
HGVS:: NC_000016.10:g.28389513C>T, NC_000016.9:g.28400834C>T

Select item 148854810711.

rs1488548107 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 16:28381025 (GRCh38)
16:28392346 (GRCh37)
Canonical SPDI:: NC_000016.10:28381024:T:
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.28381025del, NC_000016.9:g.28392346del

Select item 148849788612.

rs1488497886 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 16:28382285 (GRCh38)
16:28393606 (GRCh37)
Canonical SPDI:: NC_000016.10:28382280:AACAACA:AACA
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AACA=0./0 (ALFA)
HGVS:: NC_000016.10:g.28382282ACA[1], NC_000016.9:g.28393603ACA[1]

Select item 148772180213.

rs1487721802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:28405568 (GRCh38)
16:28416889 (GRCh37)
Canonical SPDI:: NC_000016.10:28405567:G:A
Gene:: EIF3CL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.28405568G>A, NC_000016.9:g.28416889G>A

Select item 148749739914.

rs1487497399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:28385419 (GRCh38)
16:28396740 (GRCh37)
Canonical SPDI:: NC_000016.10:28385418:C:G,NC_000016.10:28385418:C:T
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.28385419C>G, NC_000016.10:g.28385419C>T, NC_000016.9:g.28396740C>G, NC_000016.9:g.28396740C>T

Select item 148749626215.

rs1487496262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:28392785 (GRCh38)
16:28404106 (GRCh37)
Canonical SPDI:: NC_000016.10:28392784:T:C
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.28392785T>C, NC_000016.9:g.28404106T>C

Select item 148727655916.

rs1487276559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:28391818 (GRCh38)
16:28403139 (GRCh37)
Canonical SPDI:: NC_000016.10:28391817:G:C
Gene:: EIF3CL (Varview), MIR6862-1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000016.10:g.28391818G>C, NC_000016.9:g.28403139G>C, XM_017023620.3:c.977C>G, XM_017023620.2:c.977C>G, XM_017023620.1:c.977C>G, NM_001099661.2:c.977C>G, NM_001099661.1:c.977C>G, NM_001317857.2:c.977C>G, NM_001317857.1:c.977C>G, XM_017023621.2:c.26C>G, XM_017023621.1:c.26C>G, XM_047434558.1:c.977C>G, NM_001317856.1:c.977C>G, XP_016879109.1:p.Thr326Ser, NP_001093131.1:p.Thr326Ser, NP_001304786.1:p.Thr326Ser, XP_016879110.1:p.Thr9Ser, XP_047290514.1:p.Thr326Ser, NP_001304785.1:p.Thr326Ser

Select item 148684647717.

rs1486846477 has merged into rs780518770 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 16:28405300 (GRCh38)
16:28416621 (GRCh37)
Canonical SPDI:: NC_000016.10:28405299:AAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:28405299:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0415/266 (1000Genomes)
-=0.3571/5 (GENOME_DK)
HGVS:: NC_000016.10:g.28405310del, NC_000016.10:g.28405310dup, NC_000016.9:g.28416631del, NC_000016.9:g.28416631dup

Select item 148613988518.

rs1486139885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28387329 (GRCh38)
16:28398650 (GRCh37)
Canonical SPDI:: NC_000016.10:28387328:C:T
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000017/2 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.28387329C>T, NC_000016.9:g.28398650C>T

Select item 148595085019.

rs1485950850 has merged into rs1209977692 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 16:28396682 (GRCh38)
16:28408003 (GRCh37)
Canonical SPDI:: NC_000016.10:28396667:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:28396667:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:28396667:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:28396667:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:28396667:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:28396667:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:28396667:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28396667:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:28396667:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EIF3CL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.00089/14 (TOMMO)
HGVS:: NC_000016.10:g.28396682_28396690del, NC_000016.10:g.28396684_28396690del, NC_000016.10:g.28396685_28396690del, NC_000016.10:g.28396686_28396690del, NC_000016.10:g.28396687_28396690del, NC_000016.10:g.28396688_28396690del, NC_000016.10:g.28396689_28396690del, NC_000016.10:g.28396690del, NC_000016.10:g.28396689_28396690dup, NC_000016.9:g.28408003_28408011del, NC_000016.9:g.28408005_28408011del, NC_000016.9:g.28408006_28408011del, NC_000016.9:g.28408007_28408011del, NC_000016.9:g.28408008_28408011del, NC_000016.9:g.28408009_28408011del, NC_000016.9:g.28408010_28408011del, NC_000016.9:g.28408011del, NC_000016.9:g.28408010_28408011dup

Select item 148565989920.

rs1485659899 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:28396600 (GRCh38)
16:28407921 (GRCh37)
Canonical SPDI:: NC_000016.10:28396599:GG:G
Gene:: EIF3CL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000016.10:g.28396601del, NC_000016.9:g.28407922del

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