SNP Links for Nucleotide (Select 22546024) - SNP

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Links from Nucleotide

Items: 1 to 20 of 34

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Select item 14650772031.

rs1465077203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28720573 (GRCh38)
17:27047591 (GRCh37)
Canonical SPDI:: NC_000017.11:28720572:A:G
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28720573A>G, NC_000017.10:g.27047591A>G, NR_000013.1:n.24A>G

Select item 14519898952.

rs1451989895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28720604 (GRCh38)
17:27047622 (GRCh37)
Canonical SPDI:: NC_000017.11:28720603:A:G
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28720604A>G, NC_000017.10:g.27047622A>G, NR_000013.1:n.55A>G

Select item 14342690873.

rs1434269087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28720589 (GRCh38)
17:27047607 (GRCh37)
Canonical SPDI:: NC_000017.11:28720588:G:A
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28720589G>A, NC_000017.10:g.27047607G>A, NR_000013.1:n.40G>A

Select item 14222829404.

rs1422282940 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 17:28720577 (GRCh38)
17:27047595 (GRCh37)
Canonical SPDI:: NC_000017.11:28720574:CTCCT:CT
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CT=0.00009/1 (ALFA)
HGVS:: NC_000017.11:g.28720577_28720579del, NC_000017.10:g.27047595_27047597del, NR_000013.1:n.28_30del

Select item 13873217115.

rs1387321711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28720598 (GRCh38)
17:27047616 (GRCh37)
Canonical SPDI:: NC_000017.11:28720597:A:C
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28720598A>C, NC_000017.10:g.27047616A>C, NR_000013.1:n.49A>C

Select item 13239951796.

rs1323995179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28720591 (GRCh38)
17:27047609 (GRCh37)
Canonical SPDI:: NC_000017.11:28720590:T:C
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28720591T>C, NC_000017.10:g.27047609T>C, NR_000013.1:n.42T>C

Select item 13227735647.

rs1322773564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28720594 (GRCh38)
17:27047612 (GRCh37)
Canonical SPDI:: NC_000017.11:28720593:C:T
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.28720594C>T, NC_000017.10:g.27047612C>T, NR_000013.1:n.45C>T

Select item 12459403268.

rs1245940326 [Homo sapiens]

Variant type:: DEL
Alleles:: ATA>- [Show Flanks]
Chromosome:: 17:28720554 (GRCh38)
17:27047572 (GRCh37)
Canonical SPDI:: NC_000017.11:28720553:ATA:
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28720554_28720556del, NC_000017.10:g.27047572_27047574del, NR_000013.1:n.5_7del

Select item 12374404549.

rs1237440454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28720610 (GRCh38)
17:27047628 (GRCh37)
Canonical SPDI:: NC_000017.11:28720609:G:A
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28720610G>A, NC_000017.10:g.27047628G>A, NR_000013.1:n.61G>A

Select item 122920652610.

rs1229206526 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28720552 (GRCh38)
17:27047570 (GRCh37)
Canonical SPDI:: NC_000017.11:28720551:G:A
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28720552G>A, NC_000017.10:g.27047570G>A, NR_000013.1:n.3G>A

Select item 115779918311.

rs1157799183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28720588 (GRCh38)
17:27047606 (GRCh37)
Canonical SPDI:: NC_000017.11:28720587:T:C
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28720588T>C, NC_000017.10:g.27047606T>C, NR_000013.1:n.39T>C

Select item 115715856712.

rs1157158567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28720599 (GRCh38)
17:27047617 (GRCh37)
Canonical SPDI:: NC_000017.11:28720598:A:G
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28720599A>G, NC_000017.10:g.27047617A>G, NR_000013.1:n.50A>G

Select item 103237298713.

rs1032372987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28720558 (GRCh38)
17:27047576 (GRCh37)
Canonical SPDI:: NC_000017.11:28720557:G:A
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.28720558G>A, NC_000017.10:g.27047576G>A, NR_000013.1:n.9G>A

Select item 89379319514.

rs893793195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28720561 (GRCh38)
17:27047579 (GRCh37)
Canonical SPDI:: NC_000017.11:28720560:G:A
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28720561G>A, NC_000017.10:g.27047579G>A, NR_000013.1:n.12G>A

Select item 78006635915.

rs780066359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28720616 (GRCh38)
17:27047634 (GRCh37)
Canonical SPDI:: NC_000017.11:28720615:C:T
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00013/3 (ALFA)
T=0.000016/4 (GnomAD_exomes)
T=0.000025/3 (ExAC)
T=0.000029/4 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000017.11:g.28720616C>T, NC_000017.10:g.27047634C>T, NR_000013.1:n.67C>T

Select item 77680049616.

rs776800496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28720587 (GRCh38)
17:27047605 (GRCh37)
Canonical SPDI:: NC_000017.11:28720586:G:C
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000008/1 (ExAC)
C=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.28720587G>C, NC_000017.10:g.27047605G>C, NR_000013.1:n.38G>C

Select item 77474904717.

rs774749047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28720560 (GRCh38)
17:27047578 (GRCh37)
Canonical SPDI:: NC_000017.11:28720559:T:C
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000008/1 (ExAC)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28720560T>C, NC_000017.10:g.27047578T>C, NR_000013.1:n.11T>C

Select item 77348409718.

rs773484097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28720575 (GRCh38)
17:27047593 (GRCh37)
Canonical SPDI:: NC_000017.11:28720574:C:T
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.0001/14 (GnomAD)
T=0.000144/38 (TOPMED)
T=0.000224/56 (GnomAD_exomes)
T=0.000265/32 (ExAC)
T=0.006158/103 (TOMMO)
T=0.00924/27 (KOREAN)
T=0.009279/17 (Korea1K)
HGVS:: NC_000017.11:g.28720575C>T, NC_000017.10:g.27047593C>T, NR_000013.1:n.26C>T

Select item 77225775219.

rs772257752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28720571 (GRCh38)
17:27047589 (GRCh37)
Canonical SPDI:: NC_000017.11:28720570:T:C
Gene:: RPL23A (Varview), SNORD42B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00005/6 (ExAC)
C=0.000068/17 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28720571T>C, NC_000017.10:g.27047589T>C, NR_000013.1:n.22T>C

Select item 77207333620.

rs772073336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 17:28720585 (GRCh38)
17:27047604 (GRCh37)
Canonical SPDI:: NC_000017.11:28720585:TGTG:TGTGTG
Gene:: RPL23A (Varview), SNORD4A (Varview), SNORD42B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTG=0.000217/5 (ALFA)
TG=0./0 (TWINSUK)
TG=0.000025/3 (ExAC)
TG=0.000052/13 (GnomAD_exomes)
TG=0.000071/10 (GnomAD)
TG=0.000087/23 (TOPMED)
TG=0.000162/2 (GoESP)
TG=0.000778/3 (ALSPAC)
HGVS:: NC_000017.11:g.28720586TG[3], NC_000017.10:g.27047604TG[3], NR_000013.1:n.37TG[3]