SNP Links for Gene (Select 9298) - SNP

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Items: 1 to 20 of 957

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Select item 14915322461.

rs1491532246 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:62854362 (GRCh38)
11:62621835 (GRCh37)
Canonical SPDI:: NC_000011.10:62854362:GGGG:GGGGG
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.62854366dup, NC_000011.9:g.62621838dup

Select item 14914274902.

rs1491427490 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:62854362 (GRCh38)
11:62621834 (GRCh37)
Canonical SPDI:: NC_000011.10:62854361:AG:
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000011.10:g.62854362_62854363del, NC_000011.9:g.62621834_62621835del

Select item 14912615173.

rs1491261517 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 11:62854252 (GRCh38)
11:62621725 (GRCh37)
Canonical SPDI:: NC_000011.10:62854252:GGGG:GGGGGG
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (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,by cluster
MAF:: GGGGGG=0./0 (ALFA)
GG=0.000008/2 (TOPMED)
GG=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.62854255_62854256dup, NC_000011.9:g.62621727_62621728dup, XR_007063001.1:n.32_33dup

Select item 14911522014.

rs1491152201 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:62854252 (GRCh38)
11:62621724 (GRCh37)
Canonical SPDI:: NC_000011.10:62854251:AG:
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (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,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.62854252_62854253del, NC_000011.9:g.62621724_62621725del, XR_007063001.1:n.33_34del

Select item 14909944775.

rs1490994477 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62853953 (GRCh38)
11:62621425 (GRCh37)
Canonical SPDI:: NC_000011.10:62853952:T:C
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (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,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.62853953T>C, NC_000011.9:g.62621425T>C, NR_002559.1:n.16A>G

Select item 14903920686.

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 14889291627.

rs1488929162 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTGGGACTAGGACAGAGAGTAAGACATG>- [Show Flanks]
Chromosome:: 11:62852986 (GRCh38)
11:62620458 (GRCh37)
Canonical SPDI:: NC_000011.10:62852984:GCTCTGGGACTAGGACAGAGAGTAAGACATG:G
Gene:: SNORD31 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62852986_62853015del, NC_000011.9:g.62620458_62620487del, NR_000008.2:n.22_51del

Select item 14885827788.

rs1488582778 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 11:62854047 (GRCh38)
11:62621520 (GRCh37)
Canonical SPDI:: NC_000011.10:62854047:ATA:ATAATA
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (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,by cluster
MAF:: ATAATA=0./0 (ALFA)
ATA=0.000045/12 (TOPMED)
ATA=0.000064/9 (GnomAD)
HGVS:: NC_000011.10:g.62854048_62854050dup, NC_000011.9:g.62621520_62621522dup, NR_003098.2:n.247_249dup, NR_003098.1:n.250_252dup, NR_152575.1:n.645_647dup, NR_152576.1:n.637_639dup, NR_152585.1:n.594_596dup, NR_152584.1:n.645_647dup, NR_152577.1:n.196_198dup, NR_152579.1:n.196_198dup, NR_152578.1:n.153_155dup, NR_152581.1:n.247_249dup, NR_152583.1:n.196_198dup

Select item 14878933379.

rs1487893337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62854582 (GRCh38)
11:62622054 (GRCh37)
Canonical SPDI:: NC_000011.10:62854581:G:A
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (Varview), SNORD22 (Varview), SNHG1 (Varview), LOC124900306 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62854582G>A, NC_000011.9:g.62622054G>A

Select item 148771738510.

rs1487717385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62853626 (GRCh38)
11:62621098 (GRCh37)
Canonical SPDI:: NC_000011.10:62853625:A:G
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.62853626A>G, NC_000011.9:g.62621098A>G

Select item 148730680111.

rs1487306801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62854179 (GRCh38)
11:62621651 (GRCh37)
Canonical SPDI:: NC_000011.10:62854178:T:C
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (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=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62854179T>C, NC_000011.9:g.62621651T>C, XR_007063001.1:n.107A>G

Select item 148560270612.

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 148534373713.

rs1485343737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:62853549 (GRCh38)
11:62621021 (GRCh37)
Canonical SPDI:: NC_000011.10:62853548:T:C
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_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.62853549T>C, NC_000011.9:g.62621021T>C

Select item 148491919814.

rs1484919198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62853110 (GRCh38)
11:62620582 (GRCh37)
Canonical SPDI:: NC_000011.10:62853109:G:A
Gene:: SNORD31 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: 500B_downstream_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62853110G>A, NC_000011.9:g.62620582G>A, NR_003098.2:n.357C>T, NR_003098.1:n.360C>T, NR_152575.1:n.755C>T, NR_152576.1:n.747C>T, NR_152585.1:n.704C>T, NR_152584.1:n.755C>T, NR_152577.1:n.306C>T, NR_152579.1:n.306C>T, NR_152582.1:n.267C>T, NR_152578.1:n.263C>T, NR_152580.1:n.259C>T, NR_152581.1:n.357C>T, NR_152583.1:n.306C>T

Select item 148460926015.

rs1484609260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62853044 (GRCh38)
11:62620516 (GRCh37)
Canonical SPDI:: NC_000011.10:62853043:C:T
Gene:: SNORD31 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853044C>T, NC_000011.9:g.62620516C>T

Select item 148260113916.

rs1482601139 has merged into rs1253582218 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 11:62853163 (GRCh38)
11:62620635 (GRCh37)
Canonical SPDI:: NC_000011.10:62853161:TAT:T,NC_000011.10:62853161:TAT:TATAT
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62853163_62853164del, NC_000011.10:g.62853163_62853164dup, NC_000011.9:g.62620635_62620636del, NC_000011.9:g.62620635_62620636dup

Select item 148254542917.

rs1482545429 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:62853945 (GRCh38)
11:62621417 (GRCh37)
Canonical SPDI:: NC_000011.10:62853943:GAG:G
Gene:: SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD22 (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:: G=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62853945_62853946del, NC_000011.9:g.62621417_62621418del, NR_002559.1:n.24_25del

Select item 148088351518.

rs1480883515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:62854706 (GRCh38)
11:62622178 (GRCh37)
Canonical SPDI:: NC_000011.10:62854705:T:A
Gene:: SLC3A2 (Varview), SNORD29 (Varview), SNORD31 (Varview), SNORD30 (Varview), SNORD28 (Varview), SNORD27 (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
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62854706T>A, NC_000011.9:g.62622178T>A

Select item 148056567319.

rs1480565673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 11:62853231 (GRCh38)
11:62620703 (GRCh37)
Canonical SPDI:: NC_000011.10:62853230:T:C,NC_000011.10:62853230:T:G
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (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)
HGVS:: NC_000011.10:g.62853231T>C, NC_000011.10:g.62853231T>G, NC_000011.9:g.62620703T>C, NC_000011.9:g.62620703T>G

Select item 148025931520.

rs1480259315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:62853398 (GRCh38)
11:62620870 (GRCh37)
Canonical SPDI:: NC_000011.10:62853397:G:A
Gene:: SNORD31 (Varview), SNORD30 (Varview), SNORD22 (Varview), SNHG1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.62853398G>A, NC_000011.9:g.62620870G>A

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