SNP Links for Gene (Select 11182) - SNP

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Select item 14909615371.

rs1490961537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:133479134 (GRCh38)
9:136344256 (GRCh37)
Canonical SPDI:: NC_000009.12:133479133:A:T
Gene:: SLC2A6 (Varview)
Functional Consequence:: upstream_transcript_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_000009.12:g.133479134A>T, NC_000009.11:g.136344256A>T, NW_009646201.1:g.305228A>T, NW_003315925.1:g.305228A>T, NM_017585.3:c.-75T>A, NM_001145099.1:c.-75T>A

Select item 14905776032.

rs1490577603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:133474132 (GRCh38)
9:136339254 (GRCh37)
Canonical SPDI:: NC_000009.12:133474131:T:G
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133474132T>G, NC_000009.11:g.136339254T>G, NW_009646201.1:g.300226T>G, NW_003315925.1:g.300226T>G

Select item 14905219143.

rs1490521914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133473337 (GRCh38)
9:136338459 (GRCh37)
Canonical SPDI:: NC_000009.12:133473336:T:C
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.133473337T>C, NC_000009.11:g.136338459T>C, NW_009646201.1:g.299431T>C, NW_003315925.1:g.299431T>C

Select item 14904817414.

rs1490481741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133480223 (GRCh38)
9:136345345 (GRCh37)
Canonical SPDI:: NC_000009.12:133480222:G:A
Gene:: SLC2A6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.133480223G>A, NC_000009.11:g.136345345G>A, NW_009646201.1:g.306317G>A, NW_003315925.1:g.306317G>A

Select item 14902114925.

rs1490211492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133481068 (GRCh38)
9:136346190 (GRCh37)
Canonical SPDI:: NC_000009.12:133481067:T:C
Gene:: SLC2A6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.133481068T>C, NC_000009.11:g.136346190T>C, NW_009646201.1:g.307162T>C, NW_003315925.1:g.307162T>C

Select item 14900837136.

rs1490083713 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:133474398 (GRCh38)
9:136339520 (GRCh37)
Canonical SPDI:: NC_000009.12:133474397:A:G
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000009.12:g.133474398A>G, NC_000009.11:g.136339520A>G, NW_009646201.1:g.300492A>G, NW_003315925.1:g.300492A>G

Select item 14900141587.

rs1490014158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133480469 (GRCh38)
9:136345591 (GRCh37)
Canonical SPDI:: NC_000009.12:133480468:G:A
Gene:: SLC2A6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.133480469G>A, NC_000009.11:g.136345591G>A, NW_009646201.1:g.306563G>A, NW_003315925.1:g.306563G>A

Select item 14889477808.

rs1488947780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:133472401 (GRCh38)
9:136337523 (GRCh37)
Canonical SPDI:: NC_000009.12:133472400:A:G
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000009.12:g.133472401A>G, NC_000009.11:g.136337523A>G, NW_009646201.1:g.298495A>G, NW_003315925.1:g.298495A>G

Select item 14888538449.

rs1488853844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133478403 (GRCh38)
9:136343525 (GRCh37)
Canonical SPDI:: NC_000009.12:133478402:T:C
Gene:: SLC2A6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.133478403T>C, NC_000009.11:g.136343525T>C, NW_009646201.1:g.304497T>C, NW_003315925.1:g.304497T>C, NM_017585.4:c.106A>G, NM_017585.3:c.106A>G, NM_001145099.2:c.106A>G, NM_001145099.1:c.106A>G, XM_047422706.1:c.106A>G, XM_047422708.1:c.106A>G, XM_047422707.1:c.106A>G, XM_047422705.1:c.106A>G, NP_060055.2:p.Lys36Glu, NP_001138571.1:p.Lys36Glu, XP_047278662.1:p.Lys36Glu, XP_047278664.1:p.Lys36Glu, XP_047278663.1:p.Lys36Glu, XP_047278661.1:p.Lys36Glu

Select item 148868796810.

rs1488687968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:133479399 (GRCh38)
9:136344521 (GRCh37)
Canonical SPDI:: NC_000009.12:133479398:G:C
Gene:: SLC2A6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.133479399G>C, NC_000009.11:g.136344521G>C, NW_009646201.1:g.305493G>C, NW_003315925.1:g.305493G>C

Select item 148857605311.

rs1488576053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133478715 (GRCh38)
9:136343837 (GRCh37)
Canonical SPDI:: NC_000009.12:133478714:C:T
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000009.12:g.133478715C>T, NC_000009.11:g.136343837C>T, NW_009646201.1:g.304809C>T, NW_003315925.1:g.304809C>T

Select item 148704647912.

rs1487046479 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:133470868 (GRCh38)
9:136335990 (GRCh37)
Canonical SPDI:: NC_000009.12:133470867:CCCCC:CCCC
Gene:: CACFD1 (Varview), SLC2A6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133470872del, NC_000009.11:g.136335994del, NW_009646201.1:g.296966del, NW_003315925.1:g.296966del

Select item 148698454413.

rs1486984544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133472965 (GRCh38)
9:136338087 (GRCh37)
Canonical SPDI:: NC_000009.12:133472964:C:T
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000009.12:g.133472965C>T, NC_000009.11:g.136338087C>T, NW_009646201.1:g.299059C>T, NW_003315925.1:g.299059C>T

Select item 148655555314.

rs1486555553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133477041 (GRCh38)
9:136342163 (GRCh37)
Canonical SPDI:: NC_000009.12:133477040:G:A
Gene:: SLC2A6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.133477041G>A, NC_000009.11:g.136342163G>A, NW_009646201.1:g.303135G>A, NW_003315925.1:g.303135G>A, NM_017585.4:c.456C>T, NM_017585.3:c.456C>T, NM_001145099.2:c.456C>T, NM_001145099.1:c.456C>T, XM_047422705.1:c.456C>T, XM_047422706.1:c.456C>T, XM_047422708.1:c.456C>T, XM_047422707.1:c.456C>T

Select item 148644333715.

rs1486443337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:133476098 (GRCh38)
9:136341220 (GRCh37)
Canonical SPDI:: NC_000009.12:133476097:T:A
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000009.12:g.133476098T>A, NC_000009.11:g.136341220T>A, NW_009646201.1:g.302192T>A, NW_003315925.1:g.302192T>A

Select item 148558336616.

rs1485583366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133477387 (GRCh38)
9:136342509 (GRCh37)
Canonical SPDI:: NC_000009.12:133477386:C:T
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.133477387C>T, NC_000009.11:g.136342509C>T, NW_009646201.1:g.303481C>T, NW_003315925.1:g.303481C>T

Select item 148543033317.

rs1485430333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133476538 (GRCh38)
9:136341660 (GRCh37)
Canonical SPDI:: NC_000009.12:133476537:C:T
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133476538C>T, NC_000009.11:g.136341660C>T, NW_009646201.1:g.302632C>T, NW_003315925.1:g.302632C>T

Select item 148535960018.

rs1485359600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:133476818 (GRCh38)
9:136341940 (GRCh37)
Canonical SPDI:: NC_000009.12:133476817:T:A
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133476818T>A, NC_000009.11:g.136341940T>A, NW_009646201.1:g.302912T>A, NW_003315925.1:g.302912T>A

Select item 148462363819.

rs1484623638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:133478806 (GRCh38)
9:136343928 (GRCh37)
Canonical SPDI:: NC_000009.12:133478805:G:C
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000684/2 (KOREAN)
HGVS:: NC_000009.12:g.133478806G>C, NC_000009.11:g.136343928G>C, NW_009646201.1:g.304900G>C, NW_003315925.1:g.304900G>C

Select item 148353372120.

rs1483533721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133474703 (GRCh38)
9:136339825 (GRCh37)
Canonical SPDI:: NC_000009.12:133474702:G:A
Gene:: SLC2A6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.133474703G>A, NC_000009.11:g.136339825G>A, NW_009646201.1:g.300797G>A, NW_003315925.1:g.300797G>A