SNP Links for Gene (Select 9349) - SNP

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Select item 14912903411.

rs1491290341 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:38850096 (GRCh38)
17:37006349 (GRCh37)
Canonical SPDI:: NC_000017.11:38850095:GT:
Gene:: RPL23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000036/1 (ExAC)
HGVS:: NC_000017.11:g.38850096_38850097del, NC_000017.10:g.37006349_37006350del, NM_000978.4:c.*35_*36del, NM_000978.3:c.*35_*36del

Select item 14909839822.

rs1490983982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:38855311 (GRCh38)
17:37011564 (GRCh37)
Canonical SPDI:: NC_000017.11:38855310:G:C
Gene:: RPL23 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0004/2 (ALFA)
C=0.0004/2 (Estonian)
HGVS:: NC_000017.11:g.38855311G>C, NC_000017.10:g.37011564G>C, NG_011067.4:g.218G>C

Select item 14901642843.

rs1490164284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38850318 (GRCh38)
17:37006571 (GRCh37)
Canonical SPDI:: NC_000017.11:38850317:C:T
Gene:: RPL23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38850318C>T, NC_000017.10:g.37006571C>T

Select item 14895979834.

rs1489597983 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:38850686 (GRCh38)
17:37006939 (GRCh37)
Canonical SPDI:: NC_000017.11:38850684:ATA:A
Gene:: RPL23 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.38850686_38850687del, NC_000017.10:g.37006939_37006940del

Select item 14886602745.

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 14886575416.

rs1488657541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38851443 (GRCh38)
17:37007696 (GRCh37)
Canonical SPDI:: NC_000017.11:38851442:A:G
Gene:: RPL23 (Varview), SNORA21B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.38851443A>G, NC_000017.10:g.37007696A>G

Select item 14884958917.

rs1488495891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38850741 (GRCh38)
17:37006994 (GRCh37)
Canonical SPDI:: NC_000017.11:38850740:T:C
Gene:: RPL23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38850741T>C, NC_000017.10:g.37006994T>C

Select item 14877068698.

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 14875937829.

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 148754042210.

rs1487540422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38855112 (GRCh38)
17:37011365 (GRCh37)
Canonical SPDI:: NC_000017.11:38855111:C:T
Gene:: RPL23 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38855112C>T, NC_000017.10:g.37011365C>T, NG_011067.4:g.19C>T

Select item 148733674511.

rs1487336745 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:38850961 (GRCh38)
17:37007214 (GRCh37)
Canonical SPDI:: NC_000017.11:38850960:G:C
Gene:: RPL23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38850961G>C, NC_000017.10:g.37007214G>C

Select item 148728442612.

rs1487284426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38849950 (GRCh38)
17:37006203 (GRCh37)
Canonical SPDI:: NC_000017.11:38849949:T:C
Gene:: RPL23 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000017.11:g.38849950T>C, NC_000017.10:g.37006203T>C, NM_000978.4:c.*182A>G

Select item 148727646613.

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 148646234714.

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 148608405115.

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 148536306516.

rs1485363065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:38852009 (GRCh38)
17:37008262 (GRCh37)
Canonical SPDI:: NC_000017.11:38852008:C:G
Gene:: RPL23 (Varview), SNORA21B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.38852009C>G, NC_000017.10:g.37008262C>G

Select item 148412726317.

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 148377595918.

rs1483775959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:38852241 (GRCh38)
17:37008494 (GRCh37)
Canonical SPDI:: NC_000017.11:38852240:C:G
Gene:: RPL23 (Varview), SNORA21B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.38852241C>G, NC_000017.10:g.37008494C>G

Select item 148220025119.

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 148207450520.

rs1482074505 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGACGGAG>- [Show Flanks]
Chromosome:: 17:38855755 (GRCh38)
17:37012008 (GRCh37)
Canonical SPDI:: NC_000017.11:38855753:GAGACGGAG:G
Validated:: by frequency,by alfa
MAF:: G=0.0022/10 (ALFA)
HGVS:: NC_000017.11:g.38855755_38855762del, NC_000017.10:g.37012008_37012015del, NG_011067.4:g.662_669del

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