SNP Links for Gene (Select 26800) - SNP

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Select item 14899029781.

rs1489902978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16439169 (GRCh38)
17:16342483 (GRCh37)
Canonical SPDI:: NC_000017.11:16439168:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.16439169C>T, NC_000017.10:g.16342483C>T, NM_152350.3:c.28C>T, NM_152350.2:c.28C>T, NR_027162.1:n.183C>T, NR_027160.1:n.183C>T, NR_027161.1:n.183C>T, NR_027667.1:n.183C>T, NR_027159.1:n.183C>T, NR_045028.1:n.183C>T, NM_152350.1:c.28C>T, NR_045027.1:n.183C>T, NR_027171.1:n.183C>T, NR_045024.1:n.183C>T

Select item 14869991462.

rs1486999146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:16439452 (GRCh38)
17:16342766 (GRCh37)
Canonical SPDI:: NC_000017.11:16439451:G:A,NC_000017.11:16439451:G:C
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.16439452G>A, NC_000017.11:g.16439452G>C, NC_000017.10:g.16342766G>A, NC_000017.10:g.16342766G>C

Select item 14866279043.

rs1486627904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16438040 (GRCh38)
17:16341354 (GRCh37)
Canonical SPDI:: NC_000017.11:16438039:G:A
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.16438040G>A, NC_000017.10:g.16341354G>A

Select item 14853283294.

rs1485328329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16439590 (GRCh38)
17:16342904 (GRCh37)
Canonical SPDI:: NC_000017.11:16439589:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16439590C>T, NC_000017.10:g.16342904C>T, NR_027168.2:n.141C>T, NR_027162.1:n.491C>T, NR_027160.1:n.438C>T, NR_027161.1:n.491C>T, NR_027163.1:n.225C>T, NR_027164.1:n.172C>T, NR_027169.1:n.225C>T, NR_027167.1:n.172C>T, NR_045026.1:n.225C>T

Select item 14837733335.

rs1483773333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16438371 (GRCh38)
17:16341685 (GRCh37)
Canonical SPDI:: NC_000017.11:16438370:T:C
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.16438371T>C, NC_000017.10:g.16341685T>C

Select item 14836603996.

rs1483660399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:16439091 (GRCh38)
17:16342405 (GRCh37)
Canonical SPDI:: NC_000017.11:16439090:C:G,NC_000017.11:16439090:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000142/2 (TOMMO)
HGVS:: NC_000017.11:g.16439091C>G, NC_000017.11:g.16439091C>T, NC_000017.10:g.16342405C>G, NC_000017.10:g.16342405C>T, NM_152350.3:c.-51C>G, NM_152350.3:c.-51C>T, NM_152350.2:c.-51C>G, NM_152350.2:c.-51C>T, NR_027162.1:n.105C>G, NR_027162.1:n.105C>T, NR_027160.1:n.105C>G, NR_027160.1:n.105C>T, NR_027161.1:n.105C>G, NR_027161.1:n.105C>T, NR_027667.1:n.105C>G, NR_027667.1:n.105C>T, NR_027159.1:n.105C>G, NR_027159.1:n.105C>T, NR_045028.1:n.105C>G, NR_045028.1:n.105C>T, NM_152350.1:c.-51C>G, NM_152350.1:c.-51C>T, NR_045027.1:n.105C>G, NR_045027.1:n.105C>T, NR_027171.1:n.105C>G, NR_027171.1:n.105C>T, NR_045024.1:n.105C>G, NR_045024.1:n.105C>T

Select item 14836154157.

rs1483615415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:16439603 (GRCh38)
17:16342917 (GRCh37)
Canonical SPDI:: NC_000017.11:16439602:G:A,NC_000017.11:16439602:G:C
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.16439603G>A, NC_000017.11:g.16439603G>C, NC_000017.10:g.16342917G>A, NC_000017.10:g.16342917G>C, NR_027168.2:n.154G>A, NR_027168.2:n.154G>C, NR_027162.1:n.504G>A, NR_027162.1:n.504G>C, NR_027160.1:n.451G>A, NR_027160.1:n.451G>C, NR_027161.1:n.504G>A, NR_027161.1:n.504G>C, NR_027163.1:n.238G>A, NR_027163.1:n.238G>C, NR_027164.1:n.185G>A, NR_027164.1:n.185G>C, NR_027169.1:n.238G>A, NR_027169.1:n.238G>C, NR_027167.1:n.185G>A, NR_027167.1:n.185G>C, NR_045026.1:n.238G>A, NR_045026.1:n.238G>C

Select item 14831395208.

rs1483139520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:16439419 (GRCh38)
17:16342733 (GRCh37)
Canonical SPDI:: NC_000017.11:16439418:G:A
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.16439419G>A, NC_000017.10:g.16342733G>A

Select item 14828459409.

rs1482845940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:16438903 (GRCh38)
17:16342217 (GRCh37)
Canonical SPDI:: NC_000017.11:16438902:G:C
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.16438903G>C, NC_000017.10:g.16342217G>C

Select item 148223421810.

rs1482234218 has merged into rs779137363 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG [Show Flanks]
Chromosome:: 17:16438360 (GRCh38)
17:16341674 (GRCh37)
Canonical SPDI:: NC_000017.11:16438355:AGAGAGAG:AGAG,NC_000017.11:16438355:AGAGAGAG:AGAGAG
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0./0 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000156/1 (1000Genomes)
-=0.000248/4 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.16438356AG[2], NC_000017.11:g.16438356AG[3], NC_000017.10:g.16341670AG[2], NC_000017.10:g.16341670AG[3]

Select item 147992583611.

rs1479925836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:16438362 (GRCh38)
17:16341676 (GRCh37)
Canonical SPDI:: NC_000017.11:16438361:A:G
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000042/11 (TOPMED)
G=0.000064/9 (GnomAD)
HGVS:: NC_000017.11:g.16438362A>G, NC_000017.10:g.16341676A>G

Select item 147960070612.

rs1479600706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:16440439 (GRCh38)
17:16343753 (GRCh37)
Canonical SPDI:: NC_000017.11:16440438:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16440439C>T, NC_000017.10:g.16343753C>T

Select item 147524303413.

rs1475243034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:16438712 (GRCh38)
17:16342026 (GRCh37)
Canonical SPDI:: NC_000017.11:16438711:G:C,NC_000017.11:16438711:G:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.16438712G>C, NC_000017.11:g.16438712G>T, NC_000017.10:g.16342026G>C, NC_000017.10:g.16342026G>T

Select item 147505001814.

rs1475050018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:16439892 (GRCh38)
17:16343206 (GRCh37)
Canonical SPDI:: NC_000017.11:16439891:C:G
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_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_000017.11:g.16439892C>G, NC_000017.10:g.16343206C>G

Select item 147363029715.

rs1473630297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16438391 (GRCh38)
17:16341705 (GRCh37)
Canonical SPDI:: NC_000017.11:16438390:T:C
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.16438391T>C, NC_000017.10:g.16341705T>C

Select item 147321590516.

rs1473215905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:16438882 (GRCh38)
17:16342196 (GRCh37)
Canonical SPDI:: NC_000017.11:16438881:C:G
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.16438882C>G, NC_000017.10:g.16342196C>G

Select item 147046566517.

rs1470465665 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:16438414 (GRCh38)
17:16341728 (GRCh37)
Canonical SPDI:: NC_000017.11:16438413:T:G
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.16438414T>G, NC_000017.10:g.16341728T>G

Select item 146928403918.

rs1469284039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:16440039 (GRCh38)
17:16343353 (GRCh37)
Canonical SPDI:: NC_000017.11:16440038:T:C
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_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_000017.11:g.16440039T>C, NC_000017.10:g.16343353T>C, NR_002744.1:n.4T>C

Select item 146828922119.

rs1468289221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:16439346 (GRCh38)
17:16342660 (GRCh37)
Canonical SPDI:: NC_000017.11:16439345:T:A
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview), SNORD65 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.16439346T>A, NC_000017.10:g.16342660T>A, NM_152350.3:c.205T>A, NM_152350.2:c.205T>A, NR_027168.2:n.63T>A, NR_027172.2:n.63T>A, NR_027162.1:n.360T>A, NR_027160.1:n.360T>A, NR_027161.1:n.360T>A, NR_027667.1:n.360T>A, NR_027159.1:n.360T>A, NR_045028.1:n.360T>A, NM_152350.1:c.205T>A, NR_027176.1:n.94T>A, NR_045027.1:n.360T>A, NR_027163.1:n.94T>A, NR_027164.1:n.94T>A, NR_027169.1:n.94T>A, NR_045022.1:n.94T>A, NR_045029.1:n.94T>A, NR_027167.1:n.94T>A, NR_027170.1:n.94T>A, NR_027166.1:n.94T>A, NR_027165.1:n.94T>A, NR_045021.1:n.94T>A, NR_027171.1:n.360T>A, NR_027173.1:n.94T>A, NR_027178.1:n.94T>A, NR_027158.1:n.94T>A, NR_027177.1:n.94T>A, NR_027174.1:n.94T>A, NR_045024.1:n.360T>A, NR_027175.1:n.94T>A, NR_045023.1:n.94T>A, NR_045026.1:n.94T>A, NR_027179.1:n.94T>A

Select item 146646083720.

rs1466460837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:16438159 (GRCh38)
17:16341473 (GRCh37)
Canonical SPDI:: NC_000017.11:16438158:C:A,NC_000017.11:16438158:C:T
Gene:: SNORD49A (Varview), SNHG29 (Varview), SNORD49B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.16438159C>A, NC_000017.11:g.16438159C>T, NC_000017.10:g.16341473C>A, NC_000017.10:g.16341473C>T

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