SNP Links for Gene (Select 677837) - SNP

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Links from Gene

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Select item 14902194571.

rs1490219457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38449929 (GRCh38)
20:37078572 (GRCh37)
Canonical SPDI:: NC_000020.11:38449928:G:A
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_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_000020.11:g.38449929G>A, NC_000020.10:g.37078572G>A

Select item 14879988872.

rs1487998887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:38448875 (GRCh38)
20:37077518 (GRCh37)
Canonical SPDI:: NC_000020.11:38448874:A:C
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.38448875A>C, NC_000020.10:g.37077518A>C

Select item 14849577213.

rs1484957721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:38449343 (GRCh38)
20:37077986 (GRCh37)
Canonical SPDI:: NC_000020.11:38449342:C:T
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38449343C>T, NC_000020.10:g.37077986C>T

Select item 14823807894.

rs1482380789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:38449774 (GRCh38)
20:37078417 (GRCh37)
Canonical SPDI:: NC_000020.11:38449773:A:G
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.38449774A>G, NC_000020.10:g.37078417A>G

Select item 14817797765.

rs1481779776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:38448357 (GRCh38)
20:37077000 (GRCh37)
Canonical SPDI:: NC_000020.11:38448356:A:G
Gene:: SNHG11 (Varview), SNORA71E (Varview), SNORA60 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000108/2 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.38448357A>G, NC_000020.10:g.37077000A>G, NM_139016.2:c.*1313A>G

Select item 14816954486.

rs1481695448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:38449972 (GRCh38)
20:37078615 (GRCh37)
Canonical SPDI:: NC_000020.11:38449971:A:C
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.38449972A>C, NC_000020.10:g.37078615A>C

Select item 14802803587.

rs1480280358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:38448767 (GRCh38)
20:37077410 (GRCh37)
Canonical SPDI:: NC_000020.11:38448766:C:A
Gene:: SNHG11 (Varview), SNORA60 (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_000020.11:g.38448767C>A, NC_000020.10:g.37077410C>A

Select item 14799034138.

rs1479903413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:38448634 (GRCh38)
20:37077277 (GRCh37)
Canonical SPDI:: NC_000020.11:38448633:C:A,NC_000020.11:38448633:C:T
Gene:: SNHG11 (Varview), SNORA71E (Varview), SNORA60 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.38448634C>A, NC_000020.11:g.38448634C>T, NC_000020.10:g.37077277C>A, NC_000020.10:g.37077277C>T, NM_139016.2:c.*1590C>A, NM_139016.2:c.*1590C>T

Select item 14793066429.

rs1479306642 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGCACACACCTGGG>- [Show Flanks]
Chromosome:: 20:38448232 (GRCh38)
20:37076875 (GRCh37)
Canonical SPDI:: NC_000020.11:38448230:GCTGCACACACCTGGG:G
Gene:: SNHG11 (Varview), SNORA71E (Varview), SNORA60 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.38448232_38448246del, NC_000020.10:g.37076875_37076889del, NM_139016.2:c.*1188_*1202del

Select item 147737318710.

rs1477373187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:38447379 (GRCh38)
20:37076022 (GRCh37)
Canonical SPDI:: NC_000020.11:38447378:C:G,NC_000020.11:38447378:C:T
Gene:: SNHG11 (Varview), SNORA71E (Varview), SNORA60 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.38447379C>G, NC_000020.11:g.38447379C>T, NC_000020.10:g.37076022C>G, NC_000020.10:g.37076022C>T, NM_139016.2:c.*336C>G, NM_139016.2:c.*336C>T, NM_139016.1:c.*335C>G, NM_139016.1:c.*335C>T

Select item 147396806911.

rs1473968069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:38449500 (GRCh38)
20:37078143 (GRCh37)
Canonical SPDI:: NC_000020.11:38449499:C:A,NC_000020.11:38449499:C:T
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38449500C>A, NC_000020.11:g.38449500C>T, NC_000020.10:g.37078143C>A, NC_000020.10:g.37078143C>T, NR_002986.1:n.132C>A, NR_002986.1:n.132C>T

Select item 147307414312.

rs1473074143 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 20:38447394 (GRCh38)
20:37076037 (GRCh37)
Canonical SPDI:: NC_000020.11:38447393:A:
Gene:: SNHG11 (Varview), SNORA71E (Varview), SNORA60 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.38447394del, NC_000020.10:g.37076037del, NM_139016.2:c.*351del, NM_139016.1:c.*350del

Select item 147183535313.

rs1471835353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:38449941 (GRCh38)
20:37078584 (GRCh37)
Canonical SPDI:: NC_000020.11:38449940:C:G
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000528/8 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000071/10 (GnomAD)
G=0.001786/8 (Estonian)
HGVS:: NC_000020.11:g.38449941C>G, NC_000020.10:g.37078584C>G

Select item 147177460614.

rs1471774606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:38449902 (GRCh38)
20:37078545 (GRCh37)
Canonical SPDI:: NC_000020.11:38449901:G:A,NC_000020.11:38449901:G:C
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000014/2 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000020.11:g.38449902G>A, NC_000020.11:g.38449902G>C, NC_000020.10:g.37078545G>A, NC_000020.10:g.37078545G>C

Select item 147102235915.

rs1471022359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:38449634 (GRCh38)
20:37078277 (GRCh37)
Canonical SPDI:: NC_000020.11:38449633:G:A
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.38449634G>A, NC_000020.10:g.37078277G>A

Select item 147030108116.

rs1470301081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:38449569 (GRCh38)
20:37078212 (GRCh37)
Canonical SPDI:: NC_000020.11:38449568:T:C,NC_000020.11:38449568:T:G
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.38449569T>C, NC_000020.11:g.38449569T>G, NC_000020.10:g.37078212T>C, NC_000020.10:g.37078212T>G

Select item 146809578017.

rs1468095780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:38448338 (GRCh38)
20:37076981 (GRCh37)
Canonical SPDI:: NC_000020.11:38448337:G:T
Gene:: SNHG11 (Varview), SNORA71E (Varview), SNORA60 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.38448338G>T, NC_000020.10:g.37076981G>T, NM_139016.2:c.*1294G>T

Select item 146700708718.

rs1467007087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:38448239 (GRCh38)
20:37076882 (GRCh37)
Canonical SPDI:: NC_000020.11:38448238:C:T
Gene:: SNHG11 (Varview), SNORA71E (Varview), SNORA60 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.38448239C>T, NC_000020.10:g.37076882C>T, NM_139016.2:c.*1195C>T

Select item 146647585319.

rs1466475853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:38447842 (GRCh38)
20:37076485 (GRCh37)
Canonical SPDI:: NC_000020.11:38447841:C:T
Gene:: SNHG11 (Varview), SNORA71E (Varview), SNORA60 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.38447842C>T, NC_000020.10:g.37076485C>T, NM_139016.2:c.*799C>T

Select item 146277307020.

rs1462773070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:38448950 (GRCh38)
20:37077593 (GRCh37)
Canonical SPDI:: NC_000020.11:38448949:C:G
Gene:: SNHG11 (Varview), SNORA60 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.38448950C>G, NC_000020.10:g.37077593C>G