SNP Links for Gene (Select 619505) - SNP

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Select item 14886602741.

rs1488660274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38852752 (GRCh38)
17:37009005 (GRCh37)
Canonical SPDI:: NC_000017.11:38852751:A:G
Gene:: RPL23 (Varview), SNORA21 (Varview), SNORA21B (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=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.38852752A>G, NC_000017.10:g.37009005A>G

Select item 14877068692.

rs1487706869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38853814 (GRCh38)
17:37010067 (GRCh37)
Canonical SPDI:: NC_000017.11:38853813:G:A
Gene:: RPL23 (Varview), SNORA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000017.11:g.38853814G>A, NC_000017.10:g.37010067G>A

Select item 14875937823.

rs1487593782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:38854595 (GRCh38)
17:37010848 (GRCh37)
Canonical SPDI:: NC_000017.11:38854594:G:C
Gene:: RPL23 (Varview), SNORA21 (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.38854595G>C, NC_000017.10:g.37010848G>C

Select item 14872764664.

rs1487276466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:38854519 (GRCh38)
17:37010772 (GRCh37)
Canonical SPDI:: NC_000017.11:38854518:G:T
Gene:: RPL23 (Varview), SNORA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000017.11:g.38854519G>T, NC_000017.10:g.37010772G>T

Select item 14864623475.

rs1486462347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:38853677 (GRCh38)
17:37009930 (GRCh37)
Canonical SPDI:: NC_000017.11:38853676:C:A
Gene:: RPL23 (Varview), SNORA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38853677C>A, NC_000017.10:g.37009930C>A

Select item 14860840516.

rs1486084051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:38853216 (GRCh38)
17:37009469 (GRCh37)
Canonical SPDI:: NC_000017.11:38853215:G:A,NC_000017.11:38853215:G:C
Gene:: RPL23 (Varview), SNORA21 (Varview), SNORA21B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38853216G>A, NC_000017.11:g.38853216G>C, NC_000017.10:g.37009469G>A, NC_000017.10:g.37009469G>C

Select item 14841272637.

rs1484127263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38853871 (GRCh38)
17:37010124 (GRCh37)
Canonical SPDI:: NC_000017.11:38853870:A:G
Gene:: RPL23 (Varview), SNORA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.38853871A>G, NC_000017.10:g.37010124A>G

Select item 14822002518.

rs1482200251 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:38853918 (GRCh38)
17:37010171 (GRCh37)
Canonical SPDI:: NC_000017.11:38853917:AA:A
Gene:: RPL23 (Varview), SNORA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38853919del, NC_000017.10:g.37010172del

Select item 14809747569.

rs1480974756 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:38852735 (GRCh38)
17:37008989 (GRCh37)
Canonical SPDI:: NC_000017.11:38852735:C:CC
Gene:: RPL23 (Varview), SNORA21 (Varview), SNORA21B (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:: CC=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.38852736dup, NC_000017.10:g.37008989dup

Select item 147832900210.

rs1478329002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38854175 (GRCh38)
17:37010428 (GRCh37)
Canonical SPDI:: NC_000017.11:38854174:T:C
Gene:: RPL23 (Varview), SNORA21 (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=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.38854175T>C, NC_000017.10:g.37010428T>C

Select item 147677757411.

rs1476777574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38854278 (GRCh38)
17:37010531 (GRCh37)
Canonical SPDI:: NC_000017.11:38854277:A:G
Gene:: RPL23 (Varview), SNORA21 (Varview)
Functional Consequence:: 2KB_upstream_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_000017.11:g.38854278A>G, NC_000017.10:g.37010531A>G

Select item 147651714512.

rs1476517145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:38854306 (GRCh38)
17:37010559 (GRCh37)
Canonical SPDI:: NC_000017.11:38854305:A:G,NC_000017.11:38854305:A:T
Gene:: RPL23 (Varview), SNORA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38854306A>G, NC_000017.11:g.38854306A>T, NC_000017.10:g.37010559A>G, NC_000017.10:g.37010559A>T

Select item 147605881413.

rs1476058814 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTGTCACACCA [Show Flanks]
Chromosome:: 17:38852864 (GRCh38)
17:37009118 (GRCh37)
Canonical SPDI:: NC_000017.11:38852864:TTGTCACACCA:TTGTCACACCATTGTCACACCA
Gene:: RPL23 (Varview), SNORA21 (Varview), SNORA21B (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTGTCACACCATTGTCACACCA=0./0 (ALFA)
TTGTCACACCA=0.000004/1 (TOPMED)
TTGTCACACCA=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38852865_38852875dup, NC_000017.10:g.37009118_37009128dup, NR_002576.1:n.121_131dup

Select item 147562206214.

rs1475622062 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:38853942 (GRCh38)
17:37010195 (GRCh37)
Canonical SPDI:: NC_000017.11:38853941:A:C
Gene:: RPL23 (Varview), SNORA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000042/11 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000017.11:g.38853942A>C, NC_000017.10:g.37010195A>C

Select item 147536646015.

rs1475366460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38852564 (GRCh38)
17:37008817 (GRCh37)
Canonical SPDI:: NC_000017.11:38852563:A:G
Gene:: RPL23 (Varview), SNORA21 (Varview), SNORA21B (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38852564A>G, NC_000017.10:g.37008817A>G

Select item 147509103716.

rs1475091037 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:38852369 (GRCh38)
17:37008623 (GRCh37)
Canonical SPDI:: NC_000017.11:38852369:AAAAAA:AAAAAAA
Gene:: RPL23 (Varview), SNORA21 (Varview), SNORA21B (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:: AAAAAAA=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.38852375dup, NC_000017.10:g.37008628dup

Select item 147452821617.

rs1474528216 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:38852411 (GRCh38)
17:37008664 (GRCh37)
Canonical SPDI:: NC_000017.11:38852410:C:
Gene:: RPL23 (Varview), SNORA21 (Varview), SNORA21B (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:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38852411del, NC_000017.10:g.37008664del

Select item 147377428718.

rs1473774287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:38853906 (GRCh38)
17:37010159 (GRCh37)
Canonical SPDI:: NC_000017.11:38853905:G:C
Gene:: RPL23 (Varview), SNORA21 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.38853906G>C, NC_000017.10:g.37010159G>C

Select item 147347642819.

rs1473476428 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:38854310 (GRCh38)
17:37010563 (GRCh37)
Canonical SPDI:: NC_000017.11:38854309:T:A,NC_000017.11:38854309:T:C
Gene:: RPL23 (Varview), SNORA21 (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)
HGVS:: NC_000017.11:g.38854310T>A, NC_000017.11:g.38854310T>C, NC_000017.10:g.37010563T>A, NC_000017.10:g.37010563T>C

Select item 147324930220.

rs1473249302 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAC>- [Show Flanks]
Chromosome:: 17:38852510 (GRCh38)
17:37008763 (GRCh37)
Canonical SPDI:: NC_000017.11:38852505:AAACAAAC:AAAC
Gene:: RPL23 (Varview), SNORA21 (Varview), SNORA21B (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAACAAAC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38852506AAAC[1], NC_000017.10:g.37008759AAAC[1]

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