SNP Links for Nucleotide (Select 22546005) - SNP

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Links from Nucleotide

Items: 1 to 20 of 33

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Select item 14502192981.

rs1450219298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:28722636 (GRCh38)
17:27049654 (GRCh37)
Canonical SPDI:: NC_000017.11:28722635:C:G
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (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=0.000014/2 (GnomAD)
G=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28722636C>G, NC_000017.10:g.27049654C>G, NR_000010.1:n.55C>G

Select item 14346303192.

rs1434630319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:28722616 (GRCh38)
17:27049634 (GRCh37)
Canonical SPDI:: NC_000017.11:28722615:C:G,NC_000017.11:28722615:C:T
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28722616C>G, NC_000017.11:g.28722616C>T, NC_000017.10:g.27049634C>G, NC_000017.10:g.27049634C>T, NR_000010.1:n.35C>G, NR_000010.1:n.35C>T

Select item 14103001743.

rs1410300174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:28722608 (GRCh38)
17:27049626 (GRCh37)
Canonical SPDI:: NC_000017.11:28722607:A:T
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28722608A>T, NC_000017.10:g.27049626A>T, NR_000010.1:n.27A>T

Select item 13955384284.

rs1395538428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28722582 (GRCh38)
17:27049600 (GRCh37)
Canonical SPDI:: NC_000017.11:28722581:G:A
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.28722582G>A, NC_000017.10:g.27049600G>A, NR_000010.1:n.1G>A

Select item 13684672265.

rs1368467226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28722620 (GRCh38)
17:27049638 (GRCh37)
Canonical SPDI:: NC_000017.11:28722619:A:G
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28722620A>G, NC_000017.10:g.27049638A>G, NR_000010.1:n.39A>G

Select item 13583203266.

rs1358320326 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTG>- [Show Flanks]
Chromosome:: 17:28722628 (GRCh38)
17:27049646 (GRCh37)
Canonical SPDI:: NC_000017.11:28722625:TGATTG:TG
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.28722628_28722631del, NC_000017.10:g.27049646_27049649del, NR_000010.1:n.47_50del

Select item 13508835337.

rs1350883533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28722632 (GRCh38)
17:27049650 (GRCh37)
Canonical SPDI:: NC_000017.11:28722631:G:T
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_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_000017.11:g.28722632G>T, NC_000017.10:g.27049650G>T, NR_000010.1:n.51G>T

Select item 13433653148.

rs1343365314 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:28722616 (GRCh38)
17:27049634 (GRCh37)
Canonical SPDI:: NC_000017.11:28722614:TCT:T
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28722616_28722617del, NC_000017.10:g.27049634_27049635del, NR_000010.1:n.35_36del

Select item 13098261289.

rs1309826128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28722587 (GRCh38)
17:27049605 (GRCh37)
Canonical SPDI:: NC_000017.11:28722586:A:C
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28722587A>C, NC_000017.10:g.27049605A>C, NR_000010.1:n.6A>C

Select item 125389037110.

rs1253890371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28722643 (GRCh38)
17:27049661 (GRCh37)
Canonical SPDI:: NC_000017.11:28722642:T:C
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28722643T>C, NC_000017.10:g.27049661T>C, NR_000010.1:n.62T>C

Select item 125217371711.

rs1252173717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28722599 (GRCh38)
17:27049617 (GRCh37)
Canonical SPDI:: NC_000017.11:28722598:T:C
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_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.28722599T>C, NC_000017.10:g.27049617T>C, NR_000010.1:n.18T>C

Select item 122100915912.

rs1221009159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28722623 (GRCh38)
17:27049641 (GRCh37)
Canonical SPDI:: NC_000017.11:28722622:A:G
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28722623A>G, NC_000017.10:g.27049641A>G, NR_000010.1:n.42A>G

Select item 118427303713.

rs1184273037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28722644 (GRCh38)
17:27049662 (GRCh37)
Canonical SPDI:: NC_000017.11:28722643:C:T
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28722644C>T, NC_000017.10:g.27049662C>T, NR_000010.1:n.63C>T

Select item 117160957414.

rs1171609574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28722583 (GRCh38)
17:27049601 (GRCh37)
Canonical SPDI:: NC_000017.11:28722582:G:A
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28722583G>A, NC_000017.10:g.27049601G>A, NR_000010.1:n.2G>A

Select item 104572560315.

rs1045725603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:28722617 (GRCh38)
17:27049635 (GRCh37)
Canonical SPDI:: NC_000017.11:28722616:T:A
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28722617T>A, NC_000017.10:g.27049635T>A, NR_000010.1:n.36T>A

Select item 101606071316.

rs1016060713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:28722584 (GRCh38)
17:27049602 (GRCh37)
Canonical SPDI:: NC_000017.11:28722583:T:G
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.28722584T>G, NC_000017.10:g.27049602T>G, NR_000010.1:n.3T>G

Select item 96311677417.

rs963116774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28722629 (GRCh38)
17:27049647 (GRCh37)
Canonical SPDI:: NC_000017.11:28722628:T:C
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28722629T>C, NC_000017.10:g.27049647T>C, NR_000010.1:n.48T>C

Select item 77964019718.

rs779640197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:28722630 (GRCh38)
17:27049648 (GRCh37)
Canonical SPDI:: NC_000017.11:28722629:T:A,NC_000017.11:28722629:T:G
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000017/2 (ExAC)
HGVS:: NC_000017.11:g.28722630T>A, NC_000017.11:g.28722630T>G, NC_000017.10:g.27049648T>A, NC_000017.10:g.27049648T>G, NR_000010.1:n.49T>A, NR_000010.1:n.49T>G

Select item 77832894319.

rs778328943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28722607 (GRCh38)
17:27049625 (GRCh37)
Canonical SPDI:: NC_000017.11:28722606:G:A
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000017/2 (ExAC)
HGVS:: NC_000017.11:g.28722607G>A, NC_000017.10:g.27049625G>A, NR_000010.1:n.26G>A

Select item 77305959020.

rs773059590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:28722648 (GRCh38)
17:27049666 (GRCh37)
Canonical SPDI:: NC_000017.11:28722647:T:C,NC_000017.11:28722647:T:G
Gene:: RPL23A (Varview), SNORD4B (Varview), SNORD4A (Varview), SNORD42A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000008/1 (ExAC)
HGVS:: NC_000017.11:g.28722648T>C, NC_000017.11:g.28722648T>G, NC_000017.10:g.27049666T>C, NC_000017.10:g.27049666T>G, NR_000010.1:n.67T>C, NR_000010.1:n.67T>G