SNP Links for Gene (Select 25895) - SNP

Links from Gene

Items: 1 to 20 of 2922

<< First< Prev

Page of 147

Next >Last >>

Select item 14908790441.

rs1490879044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57777556 (GRCh38)
12:58171339 (GRCh37)
Canonical SPDI:: NC_000012.12:57777555:C:T
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57777556C>T, NC_000012.11:g.58171339C>T

Select item 14905961262.

rs1490596126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57779106 (GRCh38)
12:58172889 (GRCh37)
Canonical SPDI:: NC_000012.12:57779105:T:C
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.0055/10 (Korea1K)
HGVS:: NC_000012.12:g.57779106T>C, NC_000012.11:g.58172889T>C, NG_016971.1:g.1362T>C

Select item 14904607283.

rs1490460728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57770978 (GRCh38)
12:58164761 (GRCh37)
Canonical SPDI:: NC_000012.12:57770977:T:C
Gene:: METTL1 (Varview), EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.57770978T>C, NC_000012.11:g.58164761T>C, NG_007076.1:g.1216A>G, NG_047060.1:g.6154A>G

Select item 14896784314.

rs1489678431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57777057 (GRCh38)
12:58170840 (GRCh37)
Canonical SPDI:: NC_000012.12:57777056:C:T
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.57777057C>T, NC_000012.11:g.58170840C>T, NG_047060.1:g.75G>A

Select item 14893655595.

rs1489365559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57772228 (GRCh38)
12:58166011 (GRCh37)
Canonical SPDI:: NC_000012.12:57772227:C:T
Gene:: METTL1 (Varview), EEF1AKMT3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.57772228C>T, NC_000012.11:g.58166011C>T, NG_047060.1:g.4904G>A

Select item 14893481236.

rs1489348123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57775307 (GRCh38)
12:58169090 (GRCh37)
Canonical SPDI:: NC_000012.12:57775306:G:A
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.57775307G>A, NC_000012.11:g.58169090G>A, NG_047060.1:g.1825C>T

Select item 14892540607.

rs1489254060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57774395 (GRCh38)
12:58168178 (GRCh37)
Canonical SPDI:: NC_000012.12:57774394:G:A
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57774395G>A, NC_000012.11:g.58168178G>A, NG_047060.1:g.2737C>T

Select item 14890797908.

rs1489079790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57776908 (GRCh38)
12:58170691 (GRCh37)
Canonical SPDI:: NC_000012.12:57776907:C:T
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_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.57776908C>T, NC_000012.11:g.58170691C>T, NG_047060.1:g.224G>A

Select item 14890344279.

rs1489034427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:57770838 (GRCh38)
12:58164621 (GRCh37)
Canonical SPDI:: NC_000012.12:57770837:C:A
Gene:: METTL1 (Varview), EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.57770838C>A, NC_000012.11:g.58164621C>A, NG_007076.1:g.1356G>T, NG_047060.1:g.6294G>T

Select item 148802962710.

rs1488029627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57776930 (GRCh38)
12:58170713 (GRCh37)
Canonical SPDI:: NC_000012.12:57776929:T:C
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57776930T>C, NC_000012.11:g.58170713T>C, NG_047060.1:g.202A>G

Select item 148743303211.

rs1487433032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:57779546 (GRCh38)
12:58173329 (GRCh37)
Canonical SPDI:: NC_000012.12:57779545:A:G
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.57779546A>G, NC_000012.11:g.58173329A>G, NG_016971.1:g.1802A>G

Select item 148741031112.

rs1487410311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57779060 (GRCh38)
12:58172843 (GRCh37)
Canonical SPDI:: NC_000012.12:57779059:C:T
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.57779060C>T, NC_000012.11:g.58172843C>T, NG_016971.1:g.1316C>T

Select item 148667691813.

rs1486676918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:57773173 (GRCh38)
12:58166956 (GRCh37)
Canonical SPDI:: NC_000012.12:57773172:C:G
Gene:: METTL1 (Varview), EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.57773173C>G, NC_000012.11:g.58166956C>G, NG_047060.1:g.3959G>C

Select item 148642472014.

rs1486424720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:57782391 (GRCh38)
12:58176174 (GRCh37)
Canonical SPDI:: NC_000012.12:57782390:T:A
Gene:: TSFM (Varview), EEF1AKMT3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.57782391T>A, NC_000012.11:g.58176174T>A, NG_016971.1:g.4647T>A, NM_015433.3:c.*1745T>A, NM_015433.2:c.*1745T>A, NM_206914.2:c.*2115T>A, NM_206914.1:c.*2115T>A

Select item 148613066715.

rs1486130667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:57781662 (GRCh38)
12:58175445 (GRCh37)
Canonical SPDI:: NC_000012.12:57781661:T:C
Gene:: TSFM (Varview), EEF1AKMT3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.57781662T>C, NC_000012.11:g.58175445T>C, NG_016971.1:g.3918T>C, NM_015433.3:c.*1016T>C, NM_015433.2:c.*1016T>C, NM_206914.2:c.*1386T>C, NM_206914.1:c.*1386T>C

Select item 148609890016.

rs1486098900 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:57782802 (GRCh38)
12:58176585 (GRCh37)
Canonical SPDI:: NC_000012.12:57782801:AT:
Gene:: TSFM (Varview), EEF1AKMT3 (Varview)
Functional Consequence:: frameshift_variant,downstream_transcript_variant,500B_downstream_variant,initiator_codon_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.57782802_57782803del, NC_000012.11:g.58176585_58176586del, NG_016971.1:g.5058_5059del, NM_005726.6:c.1_2del, NM_005726.5:c.1_2del, NM_001172696.2:c.1_2del, NM_001172696.1:c.1_2del, NM_001172695.2:c.1_2del, NM_001172695.1:c.1_2del, NM_001172697.2:c.1_2del, NM_001172697.1:c.1_2del, NP_005717.3:p.Met1fs, NP_001166167.1:p.Met1fs, NP_001166166.1:p.Met1fs, NP_001166168.1:p.Met1fs

Select item 148596333817.

rs1485963338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:57781306 (GRCh38)
12:58175089 (GRCh37)
Canonical SPDI:: NC_000012.12:57781305:C:T
Gene:: TSFM (Varview), EEF1AKMT3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.57781306C>T, NC_000012.11:g.58175089C>T, NG_016971.1:g.3562C>T, NM_015433.3:c.*660C>T, NM_015433.2:c.*660C>T, NM_206914.2:c.*1030C>T, NM_206914.1:c.*1030C>T

Select item 148591057018.

rs1485910570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:57778963 (GRCh38)
12:58172746 (GRCh37)
Canonical SPDI:: NC_000012.12:57778962:G:A
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000071/2 (TOMMO)
HGVS:: NC_000012.12:g.57778963G>A, NC_000012.11:g.58172746G>A, NG_016971.1:g.1219G>A

Select item 148579948219.

rs1485799482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:57772787 (GRCh38)
12:58166570 (GRCh37)
Canonical SPDI:: NC_000012.12:57772786:G:T
Gene:: METTL1 (Varview), EEF1AKMT3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.57772787G>T, NC_000012.11:g.58166570G>T, NG_047060.1:g.4345C>A, NM_015433.3:c.63G>T, NM_015433.2:c.63G>T, NM_206914.2:c.63G>T, NM_206914.1:c.63G>T

Select item 148575664520.

rs1485756645 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAGT [Show Flanks]
Chromosome:: 12:57776058 (GRCh38)
12:58169842 (GRCh37)
Canonical SPDI:: NC_000012.12:57776058:TAGT:TAGTTAGT
Gene:: EEF1AKMT3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGTTAGT=0./0 (ALFA)
TAGT=0.000004/1 (TOPMED)
TAGT=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.57776059_57776062dup, NC_000012.11:g.58169842_58169845dup, NG_047060.1:g.1070_1073dup

<< First< Prev

Page of 147

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2922

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity