SNP Links for Gene (Select 649946) - SNP

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Select item 14915169511.

rs1491516951 [Homo sapiens]

Variant type:: SNV:
Alleles:: GC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14913123192.

rs1491312319 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:119005069 (GRCh38)
11:118875780 (GRCh37)
Canonical SPDI:: NC_000011.10:119005069::A
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000011.10:g.119005069_119005070insA, NC_000011.9:g.118875779_118875780insA, NG_050577.1:g.15717_15718insA, NW_009646203.1:g.26669_26670insA, NW_003871076.1:g.26669_26670insA

Select item 14908075403.

rs1490807540 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:119003011 (GRCh38)
11:118873721 (GRCh37)
Canonical SPDI:: NC_000011.10:119003010:TT:T
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119003012del, NC_000011.9:g.118873722del, NG_050577.1:g.13660del, NW_009646203.1:g.24612del, NW_003871076.1:g.24612del, NR_003040.2:n.583del

Select item 14885906164.

rs1488590616 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:119003649 (GRCh38)
11:118874359 (GRCh37)
Canonical SPDI:: NC_000011.10:119003646:AGAG:AG
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000011.10:g.119003647AG[1], NC_000011.9:g.118874357AG[1], NG_050577.1:g.14295AG[1], NW_009646203.1:g.25247AG[1], NW_003871076.1:g.25247AG[1]

Select item 14879344065.

rs1487934406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:119002918 (GRCh38)
11:118873628 (GRCh37)
Canonical SPDI:: NC_000011.10:119002917:T:G
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_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_000011.10:g.119002918T>G, NC_000011.9:g.118873628T>G, NG_050577.1:g.13566T>G, NW_009646203.1:g.24518T>G, NW_003871076.1:g.24518T>G

Select item 14852169516.

rs1485216951 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAGGGATCACTTGAGCC>- [Show Flanks]
Chromosome:: 11:119004669 (GRCh38)
11:118875379 (GRCh37)
Canonical SPDI:: NC_000011.10:119004662:TGAGCCTGAGGGATCACTTGAGCC:TGAGCC
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGAGCC=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.119004669_119004686del, NC_000011.9:g.118875379_118875396del, NG_050577.1:g.15317_15334del, NW_009646203.1:g.26269_26286del, NW_003871076.1:g.26269_26286del

Select item 14851680557.

rs1485168055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:119003733 (GRCh38)
11:118874443 (GRCh37)
Canonical SPDI:: NC_000011.10:119003732:C:G,NC_000011.10:119003732:C:T
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.119003733C>G, NC_000011.10:g.119003733C>T, NC_000011.9:g.118874443C>G, NC_000011.9:g.118874443C>T, NG_050577.1:g.14381C>G, NG_050577.1:g.14381C>T, NW_009646203.1:g.25333C>G, NW_009646203.1:g.25333C>T, NW_003871076.1:g.25333C>G, NW_003871076.1:g.25333C>T

Select item 14845605308.

rs1484560530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119003821 (GRCh38)
11:118874531 (GRCh37)
Canonical SPDI:: NC_000011.10:119003820:A:G
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.119003821A>G, NC_000011.9:g.118874531A>G, NG_050577.1:g.14469A>G, NW_009646203.1:g.25421A>G, NW_003871076.1:g.25421A>G

Select item 14845080729.

rs1484508072 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119003009 (GRCh38)
11:118873719 (GRCh37)
Canonical SPDI:: NC_000011.10:119003008:A:G
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.119003009A>G, NC_000011.9:g.118873719A>G, NG_050577.1:g.13657A>G, NW_009646203.1:g.24609A>G, NW_003871076.1:g.24609A>G, NR_003040.2:n.585T>C

Select item 148436725010.

rs1484367250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119004334 (GRCh38)
11:118875044 (GRCh37)
Canonical SPDI:: NC_000011.10:119004333:G:A
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.119004334G>A, NC_000011.9:g.118875044G>A, NG_050577.1:g.14982G>A, NW_009646203.1:g.25934G>A, NW_003871076.1:g.25934G>A

Select item 147897392011.

rs1478973920 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:119002782 (GRCh38)
11:118873493 (GRCh37)
Canonical SPDI:: NC_000011.10:119002782:AAA:AAAA
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000122/2 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.119002785dup, NC_000011.9:g.118873495dup, NG_050577.1:g.13433dup, NW_009646203.1:g.24385dup, NW_003871076.1:g.24385dup

Select item 147732930812.

rs1477329308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:119002592 (GRCh38)
11:118873302 (GRCh37)
Canonical SPDI:: NC_000011.10:119002591:C:A
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119002592C>A, NC_000011.9:g.118873302C>A, NG_050577.1:g.13240C>A, NW_009646203.1:g.24192C>A, NW_003871076.1:g.24192C>A

Select item 147705458413.

rs1477054584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119003357 (GRCh38)
11:118874067 (GRCh37)
Canonical SPDI:: NC_000011.10:119003356:G:A
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.119003357G>A, NC_000011.9:g.118874067G>A, NG_050577.1:g.14005G>A, NW_009646203.1:g.24957G>A, NW_003871076.1:g.24957G>A, NR_003040.2:n.237C>T

Select item 147686222414.

rs1476862224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119005352 (GRCh38)
11:118876062 (GRCh37)
Canonical SPDI:: NC_000011.10:119005351:G:A
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000011.10:g.119005352G>A, NC_000011.9:g.118876062G>A, NG_050577.1:g.16000G>A, NW_009646203.1:g.26952G>A, NW_003871076.1:g.26952G>A

Select item 147562915015.

rs1475629150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:119005255 (GRCh38)
11:118875965 (GRCh37)
Canonical SPDI:: NC_000011.10:119005254:A:G
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.119005255A>G, NC_000011.9:g.118875965A>G, NG_050577.1:g.15903A>G, NW_009646203.1:g.26855A>G, NW_003871076.1:g.26855A>G

Select item 147521485216.

rs1475214852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:119002588 (GRCh38)
11:118873298 (GRCh37)
Canonical SPDI:: NC_000011.10:119002587:T:C
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000011.10:g.119002588T>C, NC_000011.9:g.118873298T>C, NG_050577.1:g.13236T>C, NW_009646203.1:g.24188T>C, NW_003871076.1:g.24188T>C

Select item 147421855317.

rs1474218553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119004437 (GRCh38)
11:118875147 (GRCh37)
Canonical SPDI:: NC_000011.10:119004436:G:A
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.119004437G>A, NC_000011.9:g.118875147G>A, NG_050577.1:g.15085G>A, NW_009646203.1:g.26037G>A, NW_003871076.1:g.26037G>A

Select item 147416940818.

rs1474169408 has merged into rs201447632 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 11:119003621 (GRCh38)
11:118874331 (GRCh37)
Canonical SPDI:: NC_000011.10:119003613:TCTCTCTCT:TCTCTCT,NC_000011.10:119003613:TCTCTCTCT:TCTCTCTCTCT
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCT=0.00019/3 (ALFA)
TC=0.00067/3 (Estonian)
TC=0.02396/120 (1000Genomes)
HGVS:: NC_000011.10:g.119003615CT[3], NC_000011.10:g.119003615CT[5], NC_000011.9:g.118874325CT[3], NC_000011.9:g.118874325CT[5], NG_050577.1:g.14263CT[3], NG_050577.1:g.14263CT[5], NW_009646203.1:g.25215CT[3], NW_009646203.1:g.25215CT[5], NW_003871076.1:g.25215CT[3], NW_003871076.1:g.25215CT[5]

Select item 147165055419.

rs1471650554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:119003051 (GRCh38)
11:118873761 (GRCh37)
Canonical SPDI:: NC_000011.10:119003050:G:A
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001119/5 (ALFA)
A=0.000036/5 (GnomAD)
A=0.001116/5 (Estonian)
HGVS:: NC_000011.10:g.119003051G>A, NC_000011.9:g.118873761G>A, NG_050577.1:g.13699G>A, NW_009646203.1:g.24651G>A, NW_003871076.1:g.24651G>A, NR_003040.2:n.543C>T

Select item 147094808120.

rs1470948081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:119004465 (GRCh38)
11:118875175 (GRCh37)
Canonical SPDI:: NC_000011.10:119004464:C:T
Gene:: CENATAC (Varview), RPL23AP64 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.119004465C>T, NC_000011.9:g.118875175C>T, NG_050577.1:g.15113C>T, NW_009646203.1:g.26065C>T, NW_003871076.1:g.26065C>T

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