SNP Links for Gene (Select 692212) - SNP

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Select item 14911712101.

rs1491171210 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:28580435 (GRCh38)
1:28906948 (GRCh37)
Canonical SPDI:: NC_000001.11:28580435::C
Gene:: SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview), SNORD99 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.28580435_28580436insC, NC_000001.10:g.28906947_28906948insC, NR_146385.1:n.495_496insG, NR_002976.1:n.77_78insG

Select item 14887134462.

rs1488713446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:28580633 (GRCh38)
1:28907145 (GRCh37)
Canonical SPDI:: NC_000001.11:28580632:T:A,NC_000001.11:28580632:T:C,NC_000001.11:28580632:T:G
Gene:: SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview), SNORD99 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_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)
HGVS:: NC_000001.11:g.28580633T>A, NC_000001.11:g.28580633T>C, NC_000001.11:g.28580633T>G, NC_000001.10:g.28907145T>A, NC_000001.10:g.28907145T>C, NC_000001.10:g.28907145T>G, NR_024127.2:n.417A>T, NR_024127.2:n.417A>G, NR_024127.2:n.417A>C, NR_024127.1:n.398A>T, NR_024127.1:n.398A>G, NR_024127.1:n.398A>C, NR_146382.1:n.1027A>T, NR_146382.1:n.1027A>G, NR_146382.1:n.1027A>C, NR_146381.1:n.434A>T, NR_146381.1:n.434A>G, NR_146381.1:n.434A>C, NR_146384.1:n.417A>T, NR_146384.1:n.417A>G, NR_146384.1:n.417A>C, NR_146387.1:n.298A>T, NR_146387.1:n.298A>G, NR_146387.1:n.298A>C, NR_146385.1:n.298A>T, NR_146385.1:n.298A>G, NR_146385.1:n.298A>C, NR_146386.1:n.434A>T, NR_146386.1:n.434A>G, NR_146386.1:n.434A>C, NR_146383.1:n.417A>T, NR_146383.1:n.417A>G, NR_146383.1:n.417A>C, NM_053040.1:c.-60A>T, NM_053040.1:c.-60A>G, NM_053040.1:c.-60A>C

Select item 14878744923.

rs1487874492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28579077 (GRCh38)
1:28905589 (GRCh37)
Canonical SPDI:: NC_000001.11:28579076:T:C
Gene:: SNHG12 (Varview), SNORD99 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.28579077T>C, NC_000001.10:g.28905589T>C

Select item 14865472364.

rs1486547236 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28578943 (GRCh38)
1:28905455 (GRCh37)
Canonical SPDI:: NC_000001.11:28578942:T:C
Gene:: TRNAU1AP (Varview), SNHG12 (Varview), SNORD99 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.28578943T>C, NC_000001.10:g.28905455T>C

Select item 14863961815.

rs1486396181 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28578995 (GRCh38)
1:28905507 (GRCh37)
Canonical SPDI:: NC_000001.11:28578994:A:G
Gene:: TRNAU1AP (Varview), SNHG12 (Varview), SNORD99 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.28578995A>G, NC_000001.10:g.28905507A>G

Select item 14862051336.

rs1486205133 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:28579375 (GRCh38)
1:28905887 (GRCh37)
Canonical SPDI:: NC_000001.11:28579374:T:A,NC_000001.11:28579374:T:G
Gene:: SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000062/1 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000248/7 (TOMMO)
HGVS:: NC_000001.11:g.28579375T>A, NC_000001.11:g.28579375T>G, NC_000001.10:g.28905887T>A, NC_000001.10:g.28905887T>G

Select item 14854133477.

rs1485413347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28579986 (GRCh38)
1:28906498 (GRCh37)
Canonical SPDI:: NC_000001.11:28579985:A:G
Gene:: SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.28579986A>G, NC_000001.10:g.28906498A>G

Select item 14833751318.

rs1483375131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:28579719 (GRCh38)
1:28906231 (GRCh37)
Canonical SPDI:: NC_000001.11:28579718:G:C
Gene:: SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.000684/2 (KOREAN)
HGVS:: NC_000001.11:g.28579719G>C, NC_000001.10:g.28906231G>C, NR_146381.1:n.770C>G, NR_146384.1:n.753C>G, NR_146387.1:n.634C>G

Select item 14810591179.

rs1481059117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28579098 (GRCh38)
1:28905610 (GRCh37)
Canonical SPDI:: NC_000001.11:28579097:G:A
Gene:: SNHG12 (Varview), SNORD99 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.28579098G>A, NC_000001.10:g.28905610G>A

Select item 148017366710.

rs1480173667 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28579665 (GRCh38)
1:28906177 (GRCh37)
Canonical SPDI:: NC_000001.11:28579664:A:G
Gene:: SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_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_000001.11:g.28579665A>G, NC_000001.10:g.28906177A>G, NR_146381.1:n.824T>C, NR_146384.1:n.807T>C, NR_146387.1:n.688T>C

Select item 147991057711.

rs1479910577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28580817 (GRCh38)
1:28907329 (GRCh37)
Canonical SPDI:: NC_000001.11:28580816:G:A
Gene:: SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview), SNORD99 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.28580817G>A, NC_000001.10:g.28907329G>A

Select item 147924988612.

rs1479249886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:28579400 (GRCh38)
1:28905912 (GRCh37)
Canonical SPDI:: NC_000001.11:28579399:T:A
Gene:: SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.0016/7 (ALFA)
HGVS:: NC_000001.11:g.28579400T>A, NC_000001.10:g.28905912T>A

Select item 147818555013.

rs1478185550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:28580480 (GRCh38)
1:28906992 (GRCh37)
Canonical SPDI:: NC_000001.11:28580479:C:G,NC_000001.11:28580479:C:T
Gene:: SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview), SNORD99 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.28580480C>G, NC_000001.11:g.28580480C>T, NC_000001.10:g.28906992C>G, NC_000001.10:g.28906992C>T, NR_146385.1:n.451G>C, NR_146385.1:n.451G>A, NR_002976.1:n.33G>C, NR_002976.1:n.33G>A

Select item 147625667814.

rs1476256678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28580418 (GRCh38)
1:28906930 (GRCh37)
Canonical SPDI:: NC_000001.11:28580417:T:C
Gene:: SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.28580418T>C, NC_000001.10:g.28906930T>C, NR_002976.1:n.95A>G

Select item 147498086415.

rs1474980864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28579613 (GRCh38)
1:28906125 (GRCh37)
Canonical SPDI:: NC_000001.11:28579612:A:G
Gene:: SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.28579613A>G, NC_000001.10:g.28906125A>G, NR_146381.1:n.876T>C, NR_146384.1:n.859T>C, NR_146387.1:n.740T>C

Select item 147190342316.

rs1471903423 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:28579943 (GRCh38)
1:28906456 (GRCh37)
Canonical SPDI:: NC_000001.11:28579943:CC:CCC
Gene:: SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28579945dup, NC_000001.10:g.28906457dup, NR_024127.2:n.528dup, NR_024127.1:n.509dup, NR_146382.1:n.1138dup, NR_146381.1:n.545dup, NR_146384.1:n.528dup, NR_146387.1:n.409dup, NR_146385.1:n.544dup, NR_146386.1:n.545dup, NR_146383.1:n.528dup, NM_053040.1:c.52dup

Select item 146872694217.

rs1468726942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28580348 (GRCh38)
1:28906860 (GRCh37)
Canonical SPDI:: NC_000001.11:28580347:A:G
Gene:: SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,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_000001.11:g.28580348A>G, NC_000001.10:g.28906860A>G

Select item 146779592218.

rs1467795922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28580000 (GRCh38)
1:28906512 (GRCh37)
Canonical SPDI:: NC_000001.11:28579999:A:G
Gene:: SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.28580000A>G, NC_000001.10:g.28906512A>G

Select item 146741109219.

rs1467411092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:28579386 (GRCh38)
1:28905898 (GRCh37)
Canonical SPDI:: NC_000001.11:28579385:A:C,NC_000001.11:28579385:A:G
Gene:: SNHG12 (Varview), SNORA61 (Varview), SNORD99 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.16667/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.28579386A>C, NC_000001.11:g.28579386A>G, NC_000001.10:g.28905898A>C, NC_000001.10:g.28905898A>G

Select item 146589033420.

rs1465890334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:28580484 (GRCh38)
1:28906996 (GRCh37)
Canonical SPDI:: NC_000001.11:28580483:G:C
Gene:: SNHG12 (Varview), SNORA44 (Varview), SNORA61 (Varview), SNORA16A (Varview), SNORD99 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28580484G>C, NC_000001.10:g.28906996G>C, NR_146385.1:n.447C>G, NR_002976.1:n.29C>G

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