SNP Links for Gene (Select 100124533) - SNP

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Select item 14899224491.

rs1489922449 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:8088419 (GRCh38)
6:8088652 (GRCh37)
Canonical SPDI:: NC_000006.12:8088418:G:A
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.8088419G>A, NC_000006.11:g.8088652G>A

Select item 14896033642.

rs1489603364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:8087686 (GRCh38)
6:8087919 (GRCh37)
Canonical SPDI:: NC_000006.12:8087685:T:C
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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_000006.12:g.8087686T>C, NC_000006.11:g.8087919T>C

Select item 14854174413.

rs1485417441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:8088375 (GRCh38)
6:8088608 (GRCh37)
Canonical SPDI:: NC_000006.12:8088374:C:G
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.8088375C>G, NC_000006.11:g.8088608C>G

Select item 14851245164.

rs1485124516 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:8087465 (GRCh38)
6:8087698 (GRCh37)
Canonical SPDI:: NC_000006.12:8087464:G:A
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.8087465G>A, NC_000006.11:g.8087698G>A

Select item 14840737375.

rs1484073737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:8087461 (GRCh38)
6:8087694 (GRCh37)
Canonical SPDI:: NC_000006.12:8087460:A:G
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.8087461A>G, NC_000006.11:g.8087694A>G

Select item 14827983366.

rs1482798336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:8088207 (GRCh38)
6:8088440 (GRCh37)
Canonical SPDI:: NC_000006.12:8088206:C:A
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.8088207C>A, NC_000006.11:g.8088440C>A

Select item 14827135757.

rs1482713575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:8086673 (GRCh38)
6:8086906 (GRCh37)
Canonical SPDI:: NC_000006.12:8086672:T:C
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.8086673T>C, NC_000006.11:g.8086906T>C

Select item 14826839348.

rs1482683934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:8086576 (GRCh38)
6:8086809 (GRCh37)
Canonical SPDI:: NC_000006.12:8086575:C:T
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.8086576C>T, NC_000006.11:g.8086809C>T

Select item 14820791449.

rs1482079144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:8087555 (GRCh38)
6:8087788 (GRCh37)
Canonical SPDI:: NC_000006.12:8087554:G:A
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.8087555G>A, NC_000006.11:g.8087788G>A

Select item 148132516510.

rs1481325165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:8088142 (GRCh38)
6:8088375 (GRCh37)
Canonical SPDI:: NC_000006.12:8088141:C:T
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.8088142C>T, NC_000006.11:g.8088375C>T

Select item 147385550511.

rs1473855505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:8088043 (GRCh38)
6:8088276 (GRCh37)
Canonical SPDI:: NC_000006.12:8088042:A:T
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.8088043A>T, NC_000006.11:g.8088276A>T

Select item 147375185012.

rs1473751850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:8088350 (GRCh38)
6:8088583 (GRCh37)
Canonical SPDI:: NC_000006.12:8088349:G:A,NC_000006.12:8088349:G:C
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.8088350G>A, NC_000006.12:g.8088350G>C, NC_000006.11:g.8088583G>A, NC_000006.11:g.8088583G>C

Select item 147289039313.

rs1472890393 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:8087547 (GRCh38)
6:8087780 (GRCh37)
Canonical SPDI:: NC_000006.12:8087546:T:A
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.8087547T>A, NC_000006.11:g.8087780T>A

Select item 147136859614.

rs1471368596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:8086120 (GRCh38)
6:8086353 (GRCh37)
Canonical SPDI:: NC_000006.12:8086119:G:A
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_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_000006.12:g.8086120G>A, NC_000006.11:g.8086353G>A

Select item 146452020515.

rs1464520205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:8086862 (GRCh38)
6:8087095 (GRCh37)
Canonical SPDI:: NC_000006.12:8086861:T:C
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.8086862T>C, NC_000006.11:g.8087095T>C

Select item 146351314416.

rs1463513144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:8088174 (GRCh38)
6:8088407 (GRCh37)
Canonical SPDI:: NC_000006.12:8088173:G:A
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.8088174G>A, NC_000006.11:g.8088407G>A

Select item 145933036317.

rs1459330363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:8088114 (GRCh38)
6:8088347 (GRCh37)
Canonical SPDI:: NC_000006.12:8088113:A:G
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.8088114A>G, NC_000006.11:g.8088347A>G

Select item 145916589818.

rs1459165898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:8087631 (GRCh38)
6:8087864 (GRCh37)
Canonical SPDI:: NC_000006.12:8087630:G:T
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.8087631G>T, NC_000006.11:g.8087864G>T

Select item 145912031019.

rs1459120310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:8086635 (GRCh38)
6:8086868 (GRCh37)
Canonical SPDI:: NC_000006.12:8086634:G:A
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.8086635G>A, NC_000006.11:g.8086868G>A

Select item 145805369320.

rs1458053693 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGT [Show Flanks]
Chromosome:: 6:8086836 (GRCh38)
6:8087070 (GRCh37)
Canonical SPDI:: NC_000006.12:8086836:T:TGGTGT
Gene:: EEF1E1 (Varview), SCARNA27 (Varview), EEF1E1-BLOC1S5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: TGGTG=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.8086837_8086838insGGTGT, NC_000006.11:g.8087070_8087071insGGTGT

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