SNP Links for Gene (Select 200765) - SNP

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Select item 14906971451.

rs1490697145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:232548950 (GRCh38)
2:233413660 (GRCh37)
Canonical SPDI:: NC_000002.12:232548949:C:T
Gene:: EIF4E2 (Varview), TIGD1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.232548950C>T, NC_000002.11:g.233413660C>T, NG_012954.2:g.14259C>T, NM_145702.4:c.933G>A, NM_145702.3:c.933G>A, NM_145702.2:c.933G>A, NM_145702.1:c.933G>A

Select item 14905321092.

rs1490532109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:232548580 (GRCh38)
2:233413290 (GRCh37)
Canonical SPDI:: NC_000002.12:232548579:G:C
Gene:: CHRNG (Varview), TIGD1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232548580G>C, NC_000002.11:g.233413290G>C, NG_012954.2:g.13889G>C, NM_145702.4:c.1303C>G, NM_145702.3:c.1303C>G, NM_145702.2:c.1303C>G, NM_145702.1:c.1303C>G, NP_663748.1:p.Leu435Val

Select item 14904752103.

rs1490475210 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:232549369 (GRCh38)
2:233414079 (GRCh37)
Canonical SPDI:: NC_000002.12:232549368:T:C
Gene:: EIF4E2 (Varview), TIGD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.232549369T>C, NC_000002.11:g.233414079T>C, NG_012954.2:g.14678T>C, NM_145702.4:c.514A>G, NM_145702.3:c.514A>G, NM_145702.2:c.514A>G, NM_145702.1:c.514A>G, NP_663748.1:p.Ile172Val

Select item 14901375164.

rs1490137516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:232549571 (GRCh38)
2:233414281 (GRCh37)
Canonical SPDI:: NC_000002.12:232549570:T:A
Gene:: EIF4E2 (Varview), TIGD1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232549571T>A, NC_000002.11:g.233414281T>A, NG_012954.2:g.14880T>A, NM_145702.4:c.312A>T, NM_145702.3:c.312A>T, NM_145702.2:c.312A>T, NM_145702.1:c.312A>T

Select item 14885394125.

rs1488539412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:232550735 (GRCh38)
2:233415445 (GRCh37)
Canonical SPDI:: NC_000002.12:232550734:A:C
Gene:: EIF4E2 (Varview), TIGD1 (Varview), MIR5001 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000087/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.232550735A>C, NC_000002.11:g.233415445A>C, NM_004846.4:c.11A>C, NM_004846.3:c.11A>C, NM_004846.2:c.11A>C, NM_001282958.2:c.11A>C, NM_001282958.1:c.11A>C, NM_001276336.2:c.11A>C, NM_001276336.1:c.11A>C, NM_001330203.2:c.11A>C, NM_001330203.1:c.11A>C, NM_001276337.2:c.11A>C, NM_001276337.1:c.11A>C, NM_001330201.2:c.11A>C, NM_001330201.1:c.11A>C, NP_004837.1:p.Lys4Thr, NP_001269887.1:p.Lys4Thr, NP_001263265.1:p.Lys4Thr, NP_001317132.1:p.Lys4Thr, NP_001263266.1:p.Lys4Thr, NP_001317130.1:p.Lys4Thr

Select item 14871628736.

rs1487162873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:232547503 (GRCh38)
2:233412213 (GRCh37)
Canonical SPDI:: NC_000002.12:232547502:G:C
Gene:: CHRNG (Varview), TIGD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.232547503G>C, NC_000002.11:g.233412213G>C, NG_012954.2:g.12812G>C, NM_005199.5:c.*1787G>C, NM_145702.4:c.*604C>G

Select item 14867567107.

rs1486756710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:232547639 (GRCh38)
2:233412349 (GRCh37)
Canonical SPDI:: NC_000002.12:232547638:C:A,NC_000002.12:232547638:C:G
Gene:: CHRNG (Varview), TIGD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.232547639C>A, NC_000002.12:g.232547639C>G, NC_000002.11:g.233412349C>A, NC_000002.11:g.233412349C>G, NG_012954.2:g.12948C>A, NG_012954.2:g.12948C>G, NM_005199.5:c.*1923C>A, NM_005199.5:c.*1923C>G, NM_145702.4:c.*468G>T, NM_145702.4:c.*468G>C

Select item 14867496328.

rs1486749632 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:232549496 (GRCh38)
2:233414206 (GRCh37)
Canonical SPDI:: NC_000002.12:232549495:AAA:AA
Gene:: EIF4E2 (Varview), TIGD1 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000009/1 (GnomAD_exomes)
-=0.000026/7 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.232549498del, NC_000002.11:g.233414208del, NG_012954.2:g.14807del, NM_145702.4:c.387del, NM_145702.3:c.387del, NM_145702.2:c.387del, NM_145702.1:c.387del, NP_663748.1:p.Phe129fs

Select item 14864127609.

rs1486412760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232552305 (GRCh38)
2:233417015 (GRCh37)
Canonical SPDI:: NC_000002.12:232552304:G:A
Gene:: EIF4E2 (Varview), TIGD1 (Varview), MIR5001 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000354/6 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.002053/6 (KOREAN)
HGVS:: NC_000002.12:g.232552305G>A, NC_000002.11:g.233417015G>A

Select item 148616090710.

rs1486160907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:232551862 (GRCh38)
2:233416572 (GRCh37)
Canonical SPDI:: NC_000002.12:232551861:A:T
Gene:: EIF4E2 (Varview), TIGD1 (Varview), MIR5001 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.232551862A>T, NC_000002.11:g.233416572A>T

Select item 148518058911.

rs1485180589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:232552343 (GRCh38)
2:233417053 (GRCh37)
Canonical SPDI:: NC_000002.12:232552342:C:A
Gene:: EIF4E2 (Varview), TIGD1 (Varview), MIR5001 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.232552343C>A, NC_000002.11:g.233417053C>A

Select item 148424291212.

rs1484242912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:232549530 (GRCh38)
2:233414240 (GRCh37)
Canonical SPDI:: NC_000002.12:232549529:G:T
Gene:: EIF4E2 (Varview), TIGD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.232549530G>T, NC_000002.11:g.233414240G>T, NG_012954.2:g.14839G>T, NM_145702.4:c.353C>A, NM_145702.3:c.353C>A, NM_145702.2:c.353C>A, NM_145702.1:c.353C>A, NP_663748.1:p.Ala118Asp

Select item 148327784513.

rs1483277845 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:232550359 (GRCh38)
2:233415069 (GRCh37)
Canonical SPDI:: NC_000002.12:232550358:A:G
Gene:: EIF4E2 (Varview), TIGD1 (Varview), MIR5001 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232550359A>G, NC_000002.11:g.233415069A>G, NM_145702.4:c.-477T>C, NM_145702.3:c.-477T>C, NM_145702.2:c.-477T>C, NM_145702.1:c.-477T>C

Select item 148316020314.

rs1483160203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232549144 (GRCh38)
2:233413854 (GRCh37)
Canonical SPDI:: NC_000002.12:232549143:G:A
Gene:: EIF4E2 (Varview), TIGD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.232549144G>A, NC_000002.11:g.233413854G>A, NG_012954.2:g.14453G>A, NM_145702.4:c.739C>T, NM_145702.3:c.739C>T, NM_145702.2:c.739C>T, NM_145702.1:c.739C>T, NP_663748.1:p.Leu247Phe

Select item 148314020715.

rs1483140207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:232551399 (GRCh38)
2:233416109 (GRCh37)
Canonical SPDI:: NC_000002.12:232551398:T:A,NC_000002.12:232551398:T:C
Gene:: EIF4E2 (Varview), TIGD1 (Varview), MIR5001 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.232551399T>A, NC_000002.12:g.232551399T>C, NC_000002.11:g.233416109T>A, NC_000002.11:g.233416109T>C

Select item 148273239216.

rs1482732392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:232551017 (GRCh38)
2:233415727 (GRCh37)
Canonical SPDI:: NC_000002.12:232551016:C:G
Gene:: EIF4E2 (Varview), TIGD1 (Varview), MIR5001 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.232551017C>G, NC_000002.11:g.233415727C>G, NM_001330202.1:c.-197C>G

Select item 148221551917.

rs1482215519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:232549730 (GRCh38)
2:233414440 (GRCh37)
Canonical SPDI:: NC_000002.12:232549729:T:C
Gene:: EIF4E2 (Varview), TIGD1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.232549730T>C, NC_000002.11:g.233414440T>C, NG_012954.2:g.15039T>C, NM_145702.4:c.153A>G, NM_145702.3:c.153A>G, NM_145702.2:c.153A>G, NM_145702.1:c.153A>G

Select item 148218138918.

rs1482181389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:232548764 (GRCh38)
2:233413474 (GRCh37)
Canonical SPDI:: NC_000002.12:232548763:G:C
Gene:: EIF4E2 (Varview), TIGD1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.232548764G>C, NC_000002.11:g.233413474G>C, NG_012954.2:g.14073G>C, NM_145702.4:c.1119C>G, NM_145702.3:c.1119C>G, NM_145702.2:c.1119C>G, NM_145702.1:c.1119C>G

Select item 148190493319.

rs1481904933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:232551405 (GRCh38)
2:233416115 (GRCh37)
Canonical SPDI:: NC_000002.12:232551404:G:C
Gene:: EIF4E2 (Varview), TIGD1 (Varview), MIR5001 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.232551405G>C, NC_000002.11:g.233416115G>C

Select item 148179366320.

rs1481793663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:232548972 (GRCh38)
2:233413682 (GRCh37)
Canonical SPDI:: NC_000002.12:232548971:G:A
Gene:: EIF4E2 (Varview), TIGD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.232548972G>A, NC_000002.11:g.233413682G>A, NG_012954.2:g.14281G>A, NM_145702.4:c.911C>T, NM_145702.3:c.911C>T, NM_145702.2:c.911C>T, NM_145702.1:c.911C>T, NP_663748.1:p.Ala304Val