SNP Links for Nucleotide (Select 1274096136) - SNP

Links from Nucleotide

Items: 1 to 20 of 589

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Select item 14868348301.

rs1486834830 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATG>- [Show Flanks]
Chromosome:: 12:10523070 (GRCh38)
12:10675669 (GRCh37)
Canonical SPDI:: NC_000012.12:10523066:ATGATG:ATG
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGATG=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.10523067ATG[1], NC_000012.11:g.10675666ATG[1], NM_001357731.1:c.*372ATG[1]

Select item 14863350142.

rs1486335014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:10507125 (GRCh38)
12:10659724 (GRCh37)
Canonical SPDI:: NC_000012.12:10507124:T:C
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.10507125T>C, NC_000012.11:g.10659724T>C, NM_001357734.3:c.1223T>C, NM_001357734.2:c.1223T>C, NM_001357734.1:c.1223T>C, NM_001357731.1:c.1223T>C, NP_001344663.1:p.Ile408Thr, NP_001344660.1:p.Ile408Thr

Select item 14828575333.

rs1482857533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10506158 (GRCh38)
12:10658757 (GRCh37)
Canonical SPDI:: NC_000012.12:10506157:G:A
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10506158G>A, NC_000012.11:g.10658757G>A, NM_001357734.3:c.256G>A, NM_001357734.2:c.256G>A, NM_001357734.1:c.256G>A, NM_001357731.1:c.256G>A, NP_001344663.1:p.Ala86Thr, NP_001344660.1:p.Ala86Thr

Select item 14824537024.

rs1482453702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10506469 (GRCh38)
12:10659068 (GRCh37)
Canonical SPDI:: NC_000012.12:10506468:A:G
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.10506469A>G, NC_000012.11:g.10659068A>G, NM_001357734.3:c.567A>G, NM_001357734.2:c.567A>G, NM_001357734.1:c.567A>G, NM_001357731.1:c.567A>G

Select item 14812486065.

rs1481248606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10522878 (GRCh38)
12:10675477 (GRCh37)
Canonical SPDI:: NC_000012.12:10522877:A:G
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10522878A>G, NC_000012.11:g.10675477A>G, XR_931355.4:n.81T>C, XR_931355.3:n.90T>C, XR_931355.2:n.90T>C, XR_931355.1:n.81T>C, XR_001749003.3:n.81T>C, XR_001749003.2:n.90T>C, XR_001749003.1:n.90T>C, NM_001357731.1:c.*183A>G

Select item 14806717496.

rs1480671749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:10506939 (GRCh38)
12:10659538 (GRCh37)
Canonical SPDI:: NC_000012.12:10506938:C:G
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10506939C>G, NC_000012.11:g.10659538C>G, NM_001357734.3:c.1037C>G, NM_001357734.2:c.1037C>G, NM_001357734.1:c.1037C>G, NM_001357731.1:c.1037C>G, NP_001344663.1:p.Thr346Ser, NP_001344660.1:p.Thr346Ser

Select item 14795662717.

rs1479566271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:10506474 (GRCh38)
12:10659073 (GRCh37)
Canonical SPDI:: NC_000012.12:10506473:A:C
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10506474A>C, NC_000012.11:g.10659073A>C, NM_001357734.3:c.572A>C, NM_001357734.2:c.572A>C, NM_001357734.1:c.572A>C, NM_001357731.1:c.572A>C, NP_001344663.1:p.Lys191Thr, NP_001344660.1:p.Lys191Thr

Select item 14792323118.

rs1479232311 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:10523002 (GRCh38)
12:10675601 (GRCh37)
Canonical SPDI:: NC_000012.12:10522999:TATA:TA
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10523000TA[1], NC_000012.11:g.10675599TA[1], NM_001357731.1:c.*305TA[1]

Select item 14791473039.

rs1479147303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:10506647 (GRCh38)
12:10659246 (GRCh37)
Canonical SPDI:: NC_000012.12:10506646:G:T
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10506647G>T, NC_000012.11:g.10659246G>T, NM_001357734.3:c.745G>T, NM_001357734.2:c.745G>T, NM_001357734.1:c.745G>T, NM_001357731.1:c.745G>T, NP_001344663.1:p.Asp249Tyr, NP_001344660.1:p.Asp249Tyr

Select item 147907858410.

rs1479078584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10505941 (GRCh38)
12:10658540 (GRCh37)
Canonical SPDI:: NC_000012.12:10505940:G:A
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.10505941G>A, NC_000012.11:g.10658540G>A, NM_001357734.3:c.39G>A, NM_001357734.2:c.39G>A, NM_001357734.1:c.39G>A, NM_001357731.1:c.39G>A

Select item 147610766611.

rs1476107666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:10506141 (GRCh38)
12:10658740 (GRCh37)
Canonical SPDI:: NC_000012.12:10506140:A:G
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.10506141A>G, NC_000012.11:g.10658740A>G, NM_001357734.3:c.239A>G, NM_001357734.2:c.239A>G, NM_001357734.1:c.239A>G, NM_001357731.1:c.239A>G, NP_001344663.1:p.Lys80Arg, NP_001344660.1:p.Lys80Arg

Select item 147186048612.

rs1471860486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:10506584 (GRCh38)
12:10659183 (GRCh37)
Canonical SPDI:: NC_000012.12:10506583:C:A
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10506584C>A, NC_000012.11:g.10659183C>A, NM_001357734.3:c.682C>A, NM_001357734.2:c.682C>A, NM_001357734.1:c.682C>A, NM_001357731.1:c.682C>A, NP_001344663.1:p.Leu228Met, NP_001344660.1:p.Leu228Met

Select item 147051417713.

rs1470514177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:10522868 (GRCh38)
12:10675467 (GRCh37)
Canonical SPDI:: NC_000012.12:10522867:C:G,NC_000012.12:10522867:C:T
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.10522868C>G, NC_000012.12:g.10522868C>T, NC_000012.11:g.10675467C>G, NC_000012.11:g.10675467C>T, XR_931355.4:n.91G>C, XR_931355.4:n.91G>A, XR_931355.3:n.100G>C, XR_931355.3:n.100G>A, XR_931355.2:n.100G>C, XR_931355.2:n.100G>A, XR_931355.1:n.91G>C, XR_931355.1:n.91G>A, XR_001749003.3:n.91G>C, XR_001749003.3:n.91G>A, XR_001749003.2:n.100G>C, XR_001749003.2:n.100G>A, XR_001749003.1:n.100G>C, XR_001749003.1:n.100G>A, NM_001357731.1:c.*173C>G, NM_001357731.1:c.*173C>T

Select item 147009395614.

rs1470093956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:10506887 (GRCh38)
12:10659486 (GRCh37)
Canonical SPDI:: NC_000012.12:10506886:C:T
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.10506887C>T, NC_000012.11:g.10659486C>T, NM_001357734.3:c.985C>T, NM_001357734.2:c.985C>T, NM_001357734.1:c.985C>T, NM_001357731.1:c.985C>T, NP_001344663.1:p.Gln329Ter, NP_001344660.1:p.Gln329Ter

Select item 147001937115.

rs1470019371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:10522659 (GRCh38)
12:10675258 (GRCh37)
Canonical SPDI:: NC_000012.12:10522658:C:A
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.10522659C>A, NC_000012.11:g.10675258C>A, XR_931355.4:n.300G>T, XR_931355.3:n.309G>T, XR_931355.2:n.309G>T, XR_931355.1:n.300G>T, XR_001749003.3:n.300G>T, XR_001749003.2:n.309G>T, XR_001749003.1:n.309G>T, NM_001357731.1:c.1365C>A

Select item 146853633016.

rs1468536330 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGT>- [Show Flanks]
Chromosome:: 12:10506607 (GRCh38)
12:10659206 (GRCh37)
Canonical SPDI:: NC_000012.12:10506602:TTGTTTGT:TTGT
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
HGVS:: NC_000012.12:g.10506603TTGT[1], NC_000012.11:g.10659202TTGT[1], NM_001357734.3:c.705_708del, NM_001357734.2:c.705_708del, NM_001357734.1:c.705_708del, NM_001357731.1:c.705_708del, NP_001344663.1:p.Cys236fs, NP_001344660.1:p.Cys236fs

Select item 146659037617.

rs1466590376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:10506913 (GRCh38)
12:10659512 (GRCh37)
Canonical SPDI:: NC_000012.12:10506912:T:C,NC_000012.12:10506912:T:G
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10506913T>C, NC_000012.12:g.10506913T>G, NC_000012.11:g.10659512T>C, NC_000012.11:g.10659512T>G, NM_001357734.3:c.1011T>C, NM_001357734.3:c.1011T>G, NM_001357734.2:c.1011T>C, NM_001357734.2:c.1011T>G, NM_001357734.1:c.1011T>C, NM_001357734.1:c.1011T>G, NM_001357731.1:c.1011T>C, NM_001357731.1:c.1011T>G, NP_001344663.1:p.Ile337Met, NP_001344660.1:p.Ile337Met

Select item 146456200418.

rs1464562004 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:10506248 (GRCh38)
12:10658847 (GRCh37)
Canonical SPDI:: NC_000012.12:10506247:G:T
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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_000012.12:g.10506248G>T, NC_000012.11:g.10658847G>T, NM_001357734.3:c.346G>T, NM_001357734.2:c.346G>T, NM_001357734.1:c.346G>T, NM_001357731.1:c.346G>T, NP_001344663.1:p.Asp116Tyr, NP_001344660.1:p.Asp116Tyr

Select item 146280523019.

rs1462805230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:10506219 (GRCh38)
12:10658818 (GRCh37)
Canonical SPDI:: NC_000012.12:10506218:G:A
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10506219G>A, NC_000012.11:g.10658818G>A, NM_001357734.3:c.317G>A, NM_001357734.2:c.317G>A, NM_001357734.1:c.317G>A, NM_001357731.1:c.317G>A, NP_001344663.1:p.Gly106Glu, NP_001344660.1:p.Gly106Glu

Select item 145961788020.

rs1459617880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:10522731 (GRCh38)
12:10675330 (GRCh37)
Canonical SPDI:: NC_000012.12:10522730:G:T
Gene:: EIF2S3B (Varview), LOC105369657 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.10522731G>T, NC_000012.11:g.10675330G>T, XR_931355.4:n.228C>A, XR_931355.3:n.237C>A, XR_931355.2:n.237C>A, XR_931355.1:n.228C>A, XR_001749003.3:n.228C>A, XR_001749003.2:n.237C>A, XR_001749003.1:n.237C>A, NM_001357731.1:c.*36G>T

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