SNP Links for Nucleotide (Select 208022688) - SNP

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Links from Nucleotide

Items: 1 to 20 of 239

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Select item 14878635051.

rs1487863505 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:54529472 (GRCh38)
2:54756609 (GRCh37)
Canonical SPDI:: NC_000002.12:54529471:T:G
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.54529472T>G, NC_000002.11:g.54756609T>G, NG_029817.1:g.78156T>G, NR_002229.2:n.251T>G, NM_020217.1:c.127T>G

Select item 14866907402.

rs1486690740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:54529505 (GRCh38)
2:54756642 (GRCh37)
Canonical SPDI:: NC_000002.12:54529504:C:G,NC_000002.12:54529504:C:T
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54529505C>G, NC_000002.12:g.54529505C>T, NC_000002.11:g.54756642C>G, NC_000002.11:g.54756642C>T, NG_029817.1:g.78189C>G, NG_029817.1:g.78189C>T, NR_002229.2:n.284C>G, NR_002229.2:n.284C>T, NM_020217.1:c.160C>G, NM_020217.1:c.160C>T

Select item 14861706793.

rs1486170679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54529232 (GRCh38)
2:54756369 (GRCh37)
Canonical SPDI:: NC_000002.12:54529231:C:T
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.54529232C>T, NC_000002.11:g.54756369C>T, NG_029817.1:g.77916C>T, NR_002229.2:n.11C>T, NM_020217.1:c.-114C>T

Select item 14839681904.

rs1483968190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:54529561 (GRCh38)
2:54756698 (GRCh37)
Canonical SPDI:: NC_000002.12:54529560:C:A,NC_000002.12:54529560:C:G
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54529561C>A, NC_000002.12:g.54529561C>G, NC_000002.11:g.54756698C>A, NC_000002.11:g.54756698C>G, NG_029817.1:g.78245C>A, NG_029817.1:g.78245C>G, NR_002229.2:n.340C>A, NR_002229.2:n.340C>G, NM_020217.1:c.216C>A, NM_020217.1:c.216C>G

Select item 14786125255.

rs1478612525 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54529226 (GRCh38)
2:54756363 (GRCh37)
Canonical SPDI:: NC_000002.12:54529225:A:G
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.54529226A>G, NC_000002.11:g.54756363A>G, NG_029817.1:g.77910A>G, NR_002229.2:n.5A>G, NM_020217.1:c.-120A>G

Select item 14781818216.

rs1478181821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:54529629 (GRCh38)
2:54756766 (GRCh37)
Canonical SPDI:: NC_000002.12:54529628:C:A,NC_000002.12:54529628:C:T
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.54529629C>A, NC_000002.12:g.54529629C>T, NC_000002.11:g.54756766C>A, NC_000002.11:g.54756766C>T, NG_029817.1:g.78313C>A, NG_029817.1:g.78313C>T, NR_002229.2:n.408C>A, NR_002229.2:n.408C>T, NM_020217.1:c.284C>A, NM_020217.1:c.284C>T

Select item 14751951407.

rs1475195140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:54529695 (GRCh38)
2:54756832 (GRCh37)
Canonical SPDI:: NC_000002.12:54529694:G:A
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54529695G>A, NC_000002.11:g.54756832G>A, NG_029817.1:g.78379G>A, NR_002229.2:n.474G>A, NM_020217.1:c.350G>A

Select item 14729722548.

rs1472972254 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGCCACAAAAAAA [Show Flanks]
Chromosome:: 2:54529442 (GRCh38)
2:54756580 (GRCh37)
Canonical SPDI:: NC_000002.12:54529442:ACGGCCACAAAAAAA:ACGGCCACAAAAAAACGGCCACAAAAAAA
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACGGCCACAAAAAAACGGCCACAAAAAAA=0./0 (ALFA)
ACGGCCACAAAAAA=0./0 (GnomAD)
ACGGCCACAAAAAA=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54529444_54529457dup, NC_000002.11:g.54756581_54756594dup, NG_029817.1:g.78128_78141dup, NR_002229.2:n.223_236dup, NM_020217.1:c.99_112dup

Select item 14666759699.

rs1466675969 has merged into rs1415236046 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 2:54529290 (GRCh38)
2:54756427 (GRCh37)
Canonical SPDI:: NC_000002.12:54529288:AAA:A,NC_000002.12:54529288:AAA:AAAA
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.54529290_54529291del, NC_000002.12:g.54529291dup, NC_000002.11:g.54756427_54756428del, NC_000002.11:g.54756428dup, NG_029817.1:g.77974_77975del, NG_029817.1:g.77975dup, NR_002229.2:n.69_70del, NR_002229.2:n.70dup, NM_020217.1:c.-56_-55del, NM_020217.1:c.-55dup

Select item 146614483810.

rs1466144838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54529615 (GRCh38)
2:54756752 (GRCh37)
Canonical SPDI:: NC_000002.12:54529614:A:G
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_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_000002.12:g.54529615A>G, NC_000002.11:g.54756752A>G, NG_029817.1:g.78299A>G, NR_002229.2:n.394A>G, NM_020217.1:c.270A>G

Select item 146494997911.

rs1464949979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54529497 (GRCh38)
2:54756634 (GRCh37)
Canonical SPDI:: NC_000002.12:54529496:C:T
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54529497C>T, NC_000002.11:g.54756634C>T, NG_029817.1:g.78181C>T, NR_002229.2:n.276C>T, NM_020217.1:c.152C>T

Select item 146284863812.

rs1462848638 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAT [Show Flanks]
Chromosome:: 2:54529407 (GRCh38)
2:54756545 (GRCh37)
Canonical SPDI:: NC_000002.12:54529407:T:TAAAT
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000002.12:g.54529408_54529409insAAAT, NC_000002.11:g.54756545_54756546insAAAT, NG_029817.1:g.78092_78093insAAAT, NR_002229.2:n.187_188insAAAT, NM_020217.1:c.63_64insAAAT

Select item 146127445113.

rs1461274451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:54529647 (GRCh38)
2:54756784 (GRCh37)
Canonical SPDI:: NC_000002.12:54529646:A:T
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54529647A>T, NC_000002.11:g.54756784A>T, NG_029817.1:g.78331A>T, NR_002229.2:n.426A>T, NM_020217.1:c.302A>T

Select item 145614191114.

rs1456141911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:54529462 (GRCh38)
2:54756599 (GRCh37)
Canonical SPDI:: NC_000002.12:54529461:G:C
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000108/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.54529462G>C, NC_000002.11:g.54756599G>C, NG_029817.1:g.78146G>C, NR_002229.2:n.241G>C, NM_020217.1:c.117G>C

Select item 145316908315.

rs1453169083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:54529322 (GRCh38)
2:54756459 (GRCh37)
Canonical SPDI:: NC_000002.12:54529321:T:A
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54529322T>A, NC_000002.11:g.54756459T>A, NG_029817.1:g.78006T>A, NR_002229.2:n.101T>A, NM_020217.1:c.-24T>A

Select item 145272765316.

rs1452727653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:54529393 (GRCh38)
2:54756530 (GRCh37)
Canonical SPDI:: NC_000002.12:54529392:A:T
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54529393A>T, NC_000002.11:g.54756530A>T, NG_029817.1:g.78077A>T, NR_002229.2:n.172A>T, NM_020217.1:c.48A>T

Select item 144805221317.

rs1448052213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:54529527 (GRCh38)
2:54756664 (GRCh37)
Canonical SPDI:: NC_000002.12:54529526:C:G,NC_000002.12:54529526:C:T
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54529527C>G, NC_000002.12:g.54529527C>T, NC_000002.11:g.54756664C>G, NC_000002.11:g.54756664C>T, NG_029817.1:g.78211C>G, NG_029817.1:g.78211C>T, NR_002229.2:n.306C>G, NR_002229.2:n.306C>T, NM_020217.1:c.182C>G, NM_020217.1:c.182C>T

Select item 144487356118.

rs1444873561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:54529383 (GRCh38)
2:54756520 (GRCh37)
Canonical SPDI:: NC_000002.12:54529382:C:G
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_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)
HGVS:: NC_000002.12:g.54529383C>G, NC_000002.11:g.54756520C>G, NG_029817.1:g.78067C>G, NR_002229.2:n.162C>G, NM_020217.1:c.38C>G

Select item 144275787219.

rs1442757872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54529340 (GRCh38)
2:54756477 (GRCh37)
Canonical SPDI:: NC_000002.12:54529339:C:T
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.54529340C>T, NC_000002.11:g.54756477C>T, NG_029817.1:g.78024C>T, NR_002229.2:n.119C>T, NM_020217.1:c.-6C>T

Select item 144054869220.

rs1440548692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54529592 (GRCh38)
2:54756729 (GRCh37)
Canonical SPDI:: NC_000002.12:54529591:A:G
Gene:: SPTBN1 (Varview), RPL23AP32 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.54529592A>G, NC_000002.11:g.54756729A>G, NG_029817.1:g.78276A>G, NR_002229.2:n.371A>G, NM_020217.1:c.247A>G