SNP Links for Gene (Select 677794) - SNP

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Select item 14907679811.

rs1490767981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:48668695 (GRCh38)
12:49062478 (GRCh37)
Canonical SPDI:: NC_000012.12:48668694:G:C
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48668695G>C, NC_000012.11:g.49062478G>C

Select item 14902439222.

rs1490243922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:48668838 (GRCh38)
12:49062621 (GRCh37)
Canonical SPDI:: NC_000012.12:48668837:G:T
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.48668838G>T, NC_000012.11:g.49062621G>T

Select item 14878845123.

rs1487884512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48669147 (GRCh38)
12:49062930 (GRCh37)
Canonical SPDI:: NC_000012.12:48669146:T:C
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000094/2 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48669147T>C, NC_000012.11:g.49062930T>C, NM_017822.4:c.835A>G, NM_017822.3:c.835A>G, NP_060292.3:p.Lys279Glu

Select item 14863581094.

rs1486358109 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48667531 (GRCh38)
12:49061314 (GRCh37)
Canonical SPDI:: NC_000012.12:48667530:T:C
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48667531T>C, NC_000012.11:g.49061314T>C, NR_002951.1:n.63A>G

Select item 14855121875.

rs1485512187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:48668608 (GRCh38)
12:49062391 (GRCh37)
Canonical SPDI:: NC_000012.12:48668607:A:T
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.48668608A>T, NC_000012.11:g.49062391A>T

Select item 14834004346.

rs1483400434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48667999 (GRCh38)
12:49061782 (GRCh37)
Canonical SPDI:: NC_000012.12:48667998:T:C
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.48667999T>C, NC_000012.11:g.49061782T>C

Select item 14822924637.

rs1482292463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:48669249 (GRCh38)
12:49063032 (GRCh37)
Canonical SPDI:: NC_000012.12:48669248:C:A
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,stop_gained
HGVS:: NC_000012.12:g.48669249C>A, NC_000012.11:g.49063032C>A, NM_017822.4:c.733G>T, NM_017822.3:c.733G>T, NP_060292.3:p.Glu245Ter

Select item 14802549118.

rs1480254911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48668720 (GRCh38)
12:49062503 (GRCh37)
Canonical SPDI:: NC_000012.12:48668719:G:A
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48668720G>A, NC_000012.11:g.49062503G>A

Select item 14796421899.

rs1479642189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:48668378 (GRCh38)
12:49062161 (GRCh37)
Canonical SPDI:: NC_000012.12:48668377:G:T
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48668378G>T, NC_000012.11:g.49062161G>T

Select item 147836165410.

rs1478361654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48669303 (GRCh38)
12:49063086 (GRCh37)
Canonical SPDI:: NC_000012.12:48669302:C:T
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48669303C>T, NC_000012.11:g.49063086C>T

Select item 147608160711.

rs1476081607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48669043 (GRCh38)
12:49062826 (GRCh37)
Canonical SPDI:: NC_000012.12:48669042:C:T
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.48669043C>T, NC_000012.11:g.49062826C>T

Select item 147600952212.

rs1476009522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48668041 (GRCh38)
12:49061824 (GRCh37)
Canonical SPDI:: NC_000012.12:48668040:C:T
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.48668041C>T, NC_000012.11:g.49061824C>T

Select item 147404578613.

rs1474045786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:48667021 (GRCh38)
12:49060804 (GRCh37)
Canonical SPDI:: NC_000012.12:48667020:T:A,NC_000012.12:48667020:T:C
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48667021T>A, NC_000012.12:g.48667021T>C, NC_000012.11:g.49060804T>A, NC_000012.11:g.49060804T>C

Select item 147349917414.

rs1473499174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48666997 (GRCh38)
12:49060780 (GRCh37)
Canonical SPDI:: NC_000012.12:48666996:A:G
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48666997A>G, NC_000012.11:g.49060780A>G

Select item 147274670915.

rs1472746709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48668949 (GRCh38)
12:49062732 (GRCh37)
Canonical SPDI:: NC_000012.12:48668948:T:C
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000057/15 (TOPMED)
HGVS:: NC_000012.12:g.48668949T>C, NC_000012.11:g.49062732T>C

Select item 147176183316.

rs1471761833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48668596 (GRCh38)
12:49062379 (GRCh37)
Canonical SPDI:: NC_000012.12:48668595:G:A
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48668596G>A, NC_000012.11:g.49062379G>A

Select item 147170311417.

rs1471703114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:48668145 (GRCh38)
12:49061928 (GRCh37)
Canonical SPDI:: NC_000012.12:48668144:T:G
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48668145T>G, NC_000012.11:g.49061928T>G

Select item 147131239618.

rs1471312396 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48669470 (GRCh38)
12:49063253 (GRCh37)
Canonical SPDI:: NC_000012.12:48669469:A:G
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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_000012.12:g.48669470A>G, NC_000012.11:g.49063253A>G

Select item 146931359819.

rs1469313598 [Homo sapiens]

Variant type:: DEL
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 12:48668477 (GRCh38)
12:49062260 (GRCh37)
Canonical SPDI:: NC_000012.12:48668476:AAGA:
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.48668477_48668480del, NC_000012.11:g.49062260_49062263del

Select item 146898859720.

rs1468988597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48668327 (GRCh38)
12:49062110 (GRCh37)
Canonical SPDI:: NC_000012.12:48668326:G:A
Gene:: KANSL2 (Varview), SNORA2B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000012.12:g.48668327G>A, NC_000012.11:g.49062110G>A

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