SNP Links for Gene (Select 9302) - SNP

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Select item 14904331741.

rs1490433174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62855498 (GRCh38)
11:62622970 (GRCh37)
Canonical SPDI:: NC_000011.10:62855497:C:G
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.62855498C>G, NC_000011.9:g.62622970C>G, NR_152575.1:n.388G>C, NR_152576.1:n.388G>C, NR_152585.1:n.388G>C, NR_152584.1:n.388G>C

Select item 14903920682.

rs1490392068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62855315 (GRCh38)
11:62622787 (GRCh37)
Canonical SPDI:: NC_000011.10:62855314:T:C
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62855315T>C, NC_000011.9:g.62622787T>C, NR_002564.1:n.52A>G

Select item 14900562873.

rs1490056287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:62855691 (GRCh38)
11:62623163 (GRCh37)
Canonical SPDI:: NC_000011.10:62855690:T:G
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.62855691T>G, NC_000011.9:g.62623163T>G, NR_152575.1:n.195A>C, NR_152576.1:n.195A>C, NR_152585.1:n.195A>C, NR_152584.1:n.195A>C

Select item 14894783534.

rs1489478353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62856477 (GRCh38)
11:62623949 (GRCh37)
Canonical SPDI:: NC_000011.10:62856476:A:G
Gene:: SLC3A2 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62856477A>G, NC_000011.9:g.62623949A>G

Select item 14880806895.

rs1488080689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:62856791 (GRCh38)
11:62624263 (GRCh37)
Canonical SPDI:: NC_000011.10:62856790:C:A,NC_000011.10:62856790:C:T
Gene:: SLC3A2 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62856791C>A, NC_000011.10:g.62856791C>T, NC_000011.9:g.62624263C>A, NC_000011.9:g.62624263C>T

Select item 14876669846.

rs1487666984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62855639 (GRCh38)
11:62623111 (GRCh37)
Canonical SPDI:: NC_000011.10:62855638:C:T
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62855639C>T, NC_000011.9:g.62623111C>T, NR_152575.1:n.247G>A, NR_152576.1:n.247G>A, NR_152585.1:n.247G>A, NR_152584.1:n.247G>A

Select item 14856027067.

rs1485602706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:62854937 (GRCh38)
11:62622409 (GRCh37)
Canonical SPDI:: NC_000011.10:62854936:T:A,NC_000011.10:62854936:T:C
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.62854937T>A, NC_000011.10:g.62854937T>C, NC_000011.9:g.62622409T>A, NC_000011.9:g.62622409T>C, NR_003098.2:n.150A>T, NR_003098.2:n.150A>G, NR_003098.1:n.153A>T, NR_003098.1:n.153A>G, NR_152575.1:n.548A>T, NR_152575.1:n.548A>G, NR_152576.1:n.540A>T, NR_152576.1:n.540A>G, NR_152584.1:n.548A>T, NR_152584.1:n.548A>G, NR_152582.1:n.107A>T, NR_152582.1:n.107A>G, NR_152581.1:n.150A>T, NR_152581.1:n.150A>G

Select item 14854190218.

rs1485419021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62857250 (GRCh38)
11:62624722 (GRCh37)
Canonical SPDI:: NC_000011.10:62857249:T:C
Gene:: SLC3A2 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.62857250T>C, NC_000011.9:g.62624722T>C

Select item 14841555939.

rs1484155593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:62855561 (GRCh38)
11:62623033 (GRCh37)
Canonical SPDI:: NC_000011.10:62855560:C:A,NC_000011.10:62855560:C:T
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000011.10:g.62855561C>A, NC_000011.10:g.62855561C>T, NC_000011.9:g.62623033C>A, NC_000011.9:g.62623033C>T, NR_152575.1:n.325G>T, NR_152575.1:n.325G>A, NR_152576.1:n.325G>T, NR_152576.1:n.325G>A, NR_152585.1:n.325G>T, NR_152585.1:n.325G>A, NR_152584.1:n.325G>T, NR_152584.1:n.325G>A

Select item 148399031510.

rs1483990315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:62856973 (GRCh38)
11:62624445 (GRCh37)
Canonical SPDI:: NC_000011.10:62856972:G:A,NC_000011.10:62856972:G:C
Gene:: SLC3A2 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62856973G>A, NC_000011.10:g.62856973G>C, NC_000011.9:g.62624445G>A, NC_000011.9:g.62624445G>C

Select item 148386942411.

rs1483869424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:62856753 (GRCh38)
11:62624225 (GRCh37)
Canonical SPDI:: NC_000011.10:62856752:C:G
Gene:: SLC3A2 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_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_000011.10:g.62856753C>G, NC_000011.9:g.62624225C>G

Select item 148377959312.

rs1483779593 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAATGCAAT>- [Show Flanks]
Chromosome:: 11:62856838 (GRCh38)
11:62624310 (GRCh37)
Canonical SPDI:: NC_000011.10:62856836:TTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAATGCAAT:T
Gene:: SLC3A2 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.62856838_62856883del, NC_000011.9:g.62624310_62624355del

Select item 148020384813.

rs1480203848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:62855432 (GRCh38)
11:62622904 (GRCh37)
Canonical SPDI:: NC_000011.10:62855431:C:G,NC_000011.10:62855431:C:T
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.62855432C>G, NC_000011.10:g.62855432C>T, NC_000011.9:g.62622904C>G, NC_000011.9:g.62622904C>T, NR_003098.2:n.56G>C, NR_003098.2:n.56G>A, NR_003098.1:n.59G>C, NR_003098.1:n.59G>A, NR_152575.1:n.454G>C, NR_152575.1:n.454G>A, NR_152576.1:n.454G>C, NR_152576.1:n.454G>A, NR_152585.1:n.454G>C, NR_152585.1:n.454G>A, NR_152584.1:n.454G>C, NR_152584.1:n.454G>A, NR_152577.1:n.56G>C, NR_152577.1:n.56G>A, NR_152579.1:n.56G>C, NR_152579.1:n.56G>A, NR_152580.1:n.56G>C, NR_152580.1:n.56G>A, NR_152581.1:n.56G>C, NR_152581.1:n.56G>A, NR_152583.1:n.56G>C, NR_152583.1:n.56G>A

Select item 147963836114.

rs1479638361 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:62856236 (GRCh38)
11:62623708 (GRCh37)
Canonical SPDI:: NC_000011.10:62856235:A:C
Gene:: SLC3A2 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62856236A>C, NC_000011.9:g.62623708A>C, NM_002394.6:c.-34A>C, NM_002394.5:c.-34A>C, NM_001012662.3:c.-34A>C, NM_001012662.2:c.-34A>C, NM_001012664.3:c.-34A>C, NM_001012664.2:c.-34A>C, NM_001012661.1:c.-34A>C, NM_001012663.1:c.-34A>C

Select item 147954759515.

rs1479547595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:62854986 (GRCh38)
11:62622458 (GRCh37)
Canonical SPDI:: NC_000011.10:62854985:C:G,NC_000011.10:62854985:C:T
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62854986C>G, NC_000011.10:g.62854986C>T, NC_000011.9:g.62622458C>G, NC_000011.9:g.62622458C>T

Select item 147932131516.

rs1479321315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:62855895 (GRCh38)
11:62623367 (GRCh37)
Canonical SPDI:: NC_000011.10:62855894:C:G,NC_000011.10:62855894:C:T
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00103/3 (KOREAN)
HGVS:: NC_000011.10:g.62855895C>G, NC_000011.10:g.62855895C>T, NC_000011.9:g.62623367C>G, NC_000011.9:g.62623367C>T

Select item 147737849217.

rs1477378492 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCGCGCC>- [Show Flanks]
Chromosome:: 11:62857110 (GRCh38)
11:62624582 (GRCh37)
Canonical SPDI:: NC_000011.10:62857106:GCCACCGCGCC:GCC
Gene:: SLC3A2 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62857110_62857117del, NC_000011.9:g.62624582_62624589del

Select item 147565593718.

rs1475655937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:62855856 (GRCh38)
11:62623328 (GRCh37)
Canonical SPDI:: NC_000011.10:62855855:G:A,NC_000011.10:62855855:G:C,NC_000011.10:62855855:G:T
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.62855856G>A, NC_000011.10:g.62855856G>C, NC_000011.10:g.62855856G>T, NC_000011.9:g.62623328G>A, NC_000011.9:g.62623328G>C, NC_000011.9:g.62623328G>T, NR_152575.1:n.30C>T, NR_152575.1:n.30C>G, NR_152575.1:n.30C>A, NR_152576.1:n.30C>T, NR_152576.1:n.30C>G, NR_152576.1:n.30C>A, NR_152585.1:n.30C>T, NR_152585.1:n.30C>G, NR_152585.1:n.30C>A, NR_152584.1:n.30C>T, NR_152584.1:n.30C>G, NR_152584.1:n.30C>A

Select item 147547305119.

rs1475473051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62855785 (GRCh38)
11:62623257 (GRCh37)
Canonical SPDI:: NC_000011.10:62855784:G:A
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000125/33 (TOPMED)
A=0.000128/18 (GnomAD)
HGVS:: NC_000011.10:g.62855785G>A, NC_000011.9:g.62623257G>A, NR_152575.1:n.101C>T, NR_152576.1:n.101C>T, NR_152585.1:n.101C>T, NR_152584.1:n.101C>T

Select item 147418570720.

rs1474185707 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:62857316 (GRCh38)
11:62624788 (GRCh37)
Canonical SPDI:: NC_000011.10:62857315:G:A,NC_000011.10:62857315:G:C
Gene:: SLC3A2 (Varview), SNORD26 (Varview), SNORD25 (Varview), SNHG1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.62857316G>A, NC_000011.10:g.62857316G>C, NC_000011.9:g.62624788G>A, NC_000011.9:g.62624788G>C

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