SNP Links for Gene (Select 100630918) - SNP

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Links from Gene

Items: 1 to 20 of 1296

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Select item 14891786981.

rs1489178698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:85539581 (GRCh38)
2:85766704 (GRCh37)
Canonical SPDI:: NC_000002.12:85539580:C:G
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000049/13 (TOPMED)
G=0.000078/11 (GnomAD)
HGVS:: NC_000002.12:g.85539581C>G, NC_000002.11:g.85766704C>G, NG_029183.1:g.5604C>G

Select item 14883165972.

rs1488316597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85537839 (GRCh38)
2:85764962 (GRCh37)
Canonical SPDI:: NC_000002.12:85537838:C:T
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.85537839C>T, NC_000002.11:g.85764962C>T, NG_029183.1:g.3862C>T, NR_038942.1:n.1048G>A

Select item 14880862633.

rs1488086263 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:85539555 (GRCh38)
2:85766679 (GRCh37)
Canonical SPDI:: NC_000002.12:85539555::T
Gene:: MAT2A (Varview), PARTICL (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.85539555_85539556insT, NC_000002.11:g.85766678_85766679insT, NG_029183.1:g.5578_5579insT

Select item 14879889314.

rs1487988931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85538612 (GRCh38)
2:85765735 (GRCh37)
Canonical SPDI:: NC_000002.12:85538611:G:A
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.85538612G>A, NC_000002.11:g.85765735G>A, NG_029183.1:g.4635G>A, NR_038942.1:n.275C>T

Select item 14875993195.

rs1487599319 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:85538814 (GRCh38)
2:85765937 (GRCh37)
Canonical SPDI:: NC_000002.12:85538813:GG:G
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000072/19 (TOPMED)
HGVS:: NC_000002.12:g.85538815del, NC_000002.11:g.85765938del, NG_029183.1:g.4838del, NR_038942.1:n.73del

Select item 14864249046.

rs1486424904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:85540880 (GRCh38)
2:85768003 (GRCh37)
Canonical SPDI:: NC_000002.12:85540879:G:C
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85540880G>C, NC_000002.11:g.85768003G>C, NG_029183.1:g.6903G>C

Select item 14846986357.

rs1484698635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:85539200 (GRCh38)
2:85766323 (GRCh37)
Canonical SPDI:: NC_000002.12:85539199:G:A,NC_000002.12:85539199:G:C
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85539200G>A, NC_000002.12:g.85539200G>C, NC_000002.11:g.85766323G>A, NC_000002.11:g.85766323G>C, NG_029183.1:g.5223G>A, NG_029183.1:g.5223G>C, NM_005911.6:c.-88G>A, NM_005911.6:c.-88G>C, NM_005911.5:c.-88G>A, NM_005911.5:c.-88G>C

Select item 14839845398.

rs1483984539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:85537636 (GRCh38)
2:85764759 (GRCh37)
Canonical SPDI:: NC_000002.12:85537635:C:G
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.85537636C>G, NC_000002.11:g.85764759C>G, NG_029183.1:g.3659C>G, NR_038942.1:n.1251G>C

Select item 14837651349.

rs1483765134 has merged into rs3834136 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:85536970 (GRCh38)
2:85764093 (GRCh37)
Canonical SPDI:: NC_000002.12:85536966:AGAGA:AGA
Gene:: PARTICL (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000142/2 (TOMMO)
HGVS:: NC_000002.12:g.85536968GA[1], NC_000002.11:g.85764091GA[1], NG_029183.1:g.2991GA[1]

Select item 148338563810.

rs1483385638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:85538151 (GRCh38)
2:85765274 (GRCh37)
Canonical SPDI:: NC_000002.12:85538150:C:A
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.85538151C>A, NC_000002.11:g.85765274C>A, NG_029183.1:g.4174C>A, NR_038942.1:n.736G>T

Select item 148287424211.

rs1482874242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:85537665 (GRCh38)
2:85764788 (GRCh37)
Canonical SPDI:: NC_000002.12:85537664:G:A,NC_000002.12:85537664:G:C,NC_000002.12:85537664:G:T
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000342/1 (KOREAN)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.85537665G>A, NC_000002.12:g.85537665G>C, NC_000002.12:g.85537665G>T, NC_000002.11:g.85764788G>A, NC_000002.11:g.85764788G>C, NC_000002.11:g.85764788G>T, NG_029183.1:g.3688G>A, NG_029183.1:g.3688G>C, NG_029183.1:g.3688G>T, NR_038942.1:n.1222C>T, NR_038942.1:n.1222C>G, NR_038942.1:n.1222C>A

Select item 148198956012.

rs1481989560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:85539182 (GRCh38)
2:85766305 (GRCh37)
Canonical SPDI:: NC_000002.12:85539181:G:T
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000057/8 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.85539182G>T, NC_000002.11:g.85766305G>T, NG_029183.1:g.5205G>T, NM_005911.6:c.-106G>T, NM_005911.5:c.-106G>T

Select item 148180497713.

rs1481804977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85539332 (GRCh38)
2:85766455 (GRCh37)
Canonical SPDI:: NC_000002.12:85539331:G:A
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.85539332G>A, NC_000002.11:g.85766455G>A, NG_029183.1:g.5355G>A, NM_005911.6:c.45G>A, NM_005911.5:c.45G>A

Select item 148179742414.

rs1481797424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85537744 (GRCh38)
2:85764867 (GRCh37)
Canonical SPDI:: NC_000002.12:85537743:C:T
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.85537744C>T, NC_000002.11:g.85764867C>T, NG_029183.1:g.3767C>T, NR_038942.1:n.1143G>A

Select item 148175165015.

rs1481751650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:85540730 (GRCh38)
2:85767853 (GRCh37)
Canonical SPDI:: NC_000002.12:85540729:A:G
Gene:: MAT2A (Varview), PARTICL (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_000002.12:g.85540730A>G, NC_000002.11:g.85767853A>G, NG_029183.1:g.6753A>G

Select item 148174789616.

rs1481747896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85538424 (GRCh38)
2:85765547 (GRCh37)
Canonical SPDI:: NC_000002.12:85538423:C:T
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.85538424C>T, NC_000002.11:g.85765547C>T, NG_029183.1:g.4447C>T, NR_038942.1:n.463G>A

Select item 148163594217.

rs1481635942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85539988 (GRCh38)
2:85767111 (GRCh37)
Canonical SPDI:: NC_000002.12:85539987:C:T
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.85539988C>T, NC_000002.11:g.85767111C>T, NG_029183.1:g.6011C>T

Select item 148121811818.

rs1481218118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:85540568 (GRCh38)
2:85767691 (GRCh37)
Canonical SPDI:: NC_000002.12:85540567:G:C
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.85540568G>C, NC_000002.11:g.85767691G>C, NG_029183.1:g.6591G>C

Select item 148002969919.

rs1480029699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:85540432 (GRCh38)
2:85767555 (GRCh37)
Canonical SPDI:: NC_000002.12:85540431:C:G,NC_000002.12:85540431:C:T
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.85540432C>G, NC_000002.12:g.85540432C>T, NC_000002.11:g.85767555C>G, NC_000002.11:g.85767555C>T, NG_029183.1:g.6455C>G, NG_029183.1:g.6455C>T

Select item 147988458520.

rs1479884585 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:85539052 (GRCh38)
2:85766175 (GRCh37)
Canonical SPDI:: NC_000002.12:85539051:C:A
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.85539052C>A, NC_000002.11:g.85766175C>A, NG_029183.1:g.5075C>A, NM_005911.5:c.-236C>A

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