SNP Links for Nucleotide (Select 418203926) - SNP

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Links from Nucleotide

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Select item 14908105041.

rs1490810504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:25597953 (GRCh38)
3:25639444 (GRCh37)
Canonical SPDI:: NC_000003.12:25597952:A:G
Gene:: RARB (Varview), TOP2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25597953A>G, NC_000003.11:g.25639444A>G, NG_029013.3:g.773631A>G, NG_052961.1:g.71420T>C, NM_001068.3:c.*354T>C, XM_011534057.4:c.*354T>C, XM_047448821.1:c.*354T>C, NM_001330700.1:c.*354T>C

Select item 14906182042.

rs1490618204 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:25626588 (GRCh38)
3:25668079 (GRCh37)
Canonical SPDI:: NC_000003.12:25626587:A:G
Gene:: TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.25626588A>G, NC_000003.11:g.25668079A>G, NG_052961.1:g.42785T>C, NM_001068.3:c.2181T>C, NM_001330700.2:c.2196T>C, NM_001330700.1:c.2196T>C, XM_011534057.4:c.2196T>C, XM_011534057.3:c.2196T>C, XM_011534057.2:c.2196T>C, XM_011534057.1:c.2196T>C, XM_047448821.1:c.2181T>C, XM_047448822.1:c.2196T>C

Select item 14905611863.

rs1490561186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25630115 (GRCh38)
3:25671606 (GRCh37)
Canonical SPDI:: NC_000003.12:25630114:C:T
Gene:: TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25630115C>T, NC_000003.11:g.25671606C>T, NG_052961.1:g.39258G>A, NM_001068.3:c.1588G>A, NM_001330700.2:c.1603G>A, NM_001330700.1:c.1603G>A, XM_011534057.4:c.1603G>A, XM_011534057.3:c.1603G>A, XM_011534057.2:c.1603G>A, XM_011534057.1:c.1603G>A, XM_047448821.1:c.1588G>A, XM_047448822.1:c.1603G>A, NP_001059.2:p.Val530Ile, NP_001317629.1:p.Val535Ile, XP_011532359.1:p.Val535Ile, XP_047304777.1:p.Val530Ile, XP_047304778.1:p.Val535Ile

Select item 14901270614.

rs1490127061 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:25627203 (GRCh38)
3:25668694 (GRCh37)
Canonical SPDI:: NC_000003.12:25627202:T:G
Gene:: TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25627203T>G, NC_000003.11:g.25668694T>G, NG_052961.1:g.42170A>C, NM_001068.3:c.1985A>C, NM_001330700.2:c.2000A>C, NM_001330700.1:c.2000A>C, XM_011534057.4:c.2000A>C, XM_011534057.3:c.2000A>C, XM_011534057.2:c.2000A>C, XM_011534057.1:c.2000A>C, XM_047448821.1:c.1985A>C, XM_047448822.1:c.2000A>C, NP_001059.2:p.Asp662Ala, NP_001317629.1:p.Asp667Ala, XP_011532359.1:p.Asp667Ala, XP_047304777.1:p.Asp662Ala, XP_047304778.1:p.Asp667Ala

Select item 14895276365.

rs1489527636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25624757 (GRCh38)
3:25666248 (GRCh37)
Canonical SPDI:: NC_000003.12:25624756:C:T
Gene:: TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.25624757C>T, NC_000003.11:g.25666248C>T, NG_052961.1:g.44616G>A, NM_001068.3:c.2256G>A, NM_001330700.2:c.2271G>A, NM_001330700.1:c.2271G>A, XM_011534057.4:c.2271G>A, XM_011534057.3:c.2271G>A, XM_011534057.2:c.2271G>A, XM_011534057.1:c.2271G>A, XM_047448821.1:c.2256G>A, XM_047448822.1:c.2271G>A

Select item 14893098126.

rs1489309812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:25598425 (GRCh38)
3:25639916 (GRCh37)
Canonical SPDI:: NC_000003.12:25598424:G:A
Gene:: RARB (Varview), TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25598425G>A, NC_000003.11:g.25639916G>A, NG_029013.3:g.774103G>A, NG_052961.1:g.70948C>T, NM_001068.3:c.4748C>T, NM_001330700.2:c.4763C>T, NM_001330700.1:c.4763C>T, XM_011534057.4:c.4652C>T, XM_011534057.3:c.4652C>T, XM_011534057.2:c.4652C>T, XM_011534057.1:c.4652C>T, XM_047448821.1:c.4637C>T, NP_001059.2:p.Ser1583Leu, NP_001317629.1:p.Ser1588Leu, XP_011532359.1:p.Ser1551Leu, XP_047304777.1:p.Ser1546Leu

Select item 14891877507.

rs1489187750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:25615557 (GRCh38)
3:25657048 (GRCh37)
Canonical SPDI:: NC_000003.12:25615556:C:A
Gene:: TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.25615557C>A, NC_000003.11:g.25657048C>A, NG_052961.1:g.53816G>T, NM_001068.3:c.3366G>T, NM_001330700.2:c.3381G>T, NM_001330700.1:c.3381G>T, XM_011534057.4:c.3381G>T, XM_011534057.3:c.3381G>T, XM_011534057.2:c.3381G>T, XM_011534057.1:c.3381G>T, XM_047448821.1:c.3366G>T, XM_047448822.1:c.*13G>T, NP_001059.2:p.Gln1122His, NP_001317629.1:p.Gln1127His, XP_011532359.1:p.Gln1127His, XP_047304777.1:p.Gln1122His

Select item 14887674428.

rs1488767442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:25607206 (GRCh38)
3:25648697 (GRCh37)
Canonical SPDI:: NC_000003.12:25607205:A:G
Gene:: TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.25607206A>G, NC_000003.11:g.25648697A>G, NG_052961.1:g.62167T>C, NM_001068.3:c.4248T>C, NM_001330700.2:c.4263T>C, NM_001330700.1:c.4263T>C, XM_011534057.4:c.4263T>C, XM_011534057.3:c.4263T>C, XM_011534057.2:c.4263T>C, XM_011534057.1:c.4263T>C, XM_047448821.1:c.4248T>C

Select item 14882991599.

rs1488299159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:25620803 (GRCh38)
3:25662294 (GRCh37)
Canonical SPDI:: NC_000003.12:25620802:T:C
Gene:: TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000003.12:g.25620803T>C, NC_000003.11:g.25662294T>C, NG_052961.1:g.48570A>G, NM_001068.3:c.2726A>G, NM_001330700.2:c.2741A>G, NM_001330700.1:c.2741A>G, XM_011534057.4:c.2741A>G, XM_011534057.3:c.2741A>G, XM_011534057.2:c.2741A>G, XM_011534057.1:c.2741A>G, XM_047448821.1:c.2726A>G, XM_047448822.1:c.2741A>G, NP_001059.2:p.Lys909Arg, NP_001317629.1:p.Lys914Arg, XP_011532359.1:p.Lys914Arg, XP_047304777.1:p.Lys909Arg, XP_047304778.1:p.Lys914Arg

Select item 148817599210.

rs1488175992 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:25620815 (GRCh38)
3:25662306 (GRCh37)
Canonical SPDI:: NC_000003.12:25620814:A:G
Gene:: TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25620815A>G, NC_000003.11:g.25662306A>G, NG_052961.1:g.48558T>C, NM_001068.3:c.2714T>C, NM_001330700.2:c.2729T>C, NM_001330700.1:c.2729T>C, XM_011534057.4:c.2729T>C, XM_011534057.3:c.2729T>C, XM_011534057.2:c.2729T>C, XM_011534057.1:c.2729T>C, XM_047448821.1:c.2714T>C, XM_047448822.1:c.2729T>C, NP_001059.2:p.Leu905Pro, NP_001317629.1:p.Leu910Pro, XP_011532359.1:p.Leu910Pro, XP_047304777.1:p.Leu905Pro, XP_047304778.1:p.Leu910Pro

Select item 148794575011.

rs1487945750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25598144 (GRCh38)
3:25639635 (GRCh37)
Canonical SPDI:: NC_000003.12:25598143:C:T
Gene:: RARB (Varview), TOP2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.25598144C>T, NC_000003.11:g.25639635C>T, NG_029013.3:g.773822C>T, NG_052961.1:g.71229G>A, NM_001068.3:c.*163G>A, NM_001330700.2:c.*163G>A, NM_001330700.1:c.*163G>A, XM_011534057.4:c.*163G>A, XM_011534057.3:c.*163G>A, XM_011534057.2:c.*163G>A, XM_011534057.1:c.*163G>A, XM_047448821.1:c.*163G>A

Select item 148670053212.

rs1486700532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:25664325 (GRCh38)
3:25705816 (GRCh37)
Canonical SPDI:: NC_000003.12:25664324:G:A
Gene:: TOP2B (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.25664325G>A, NC_000003.11:g.25705816G>A, NG_052961.1:g.5048C>T, NM_001068.3:c.-28C>T, NM_001330700.2:c.-28C>T, NM_001330700.1:c.-28C>T, XM_011534057.4:c.-28C>T, XM_011534057.3:c.-28C>T, XM_011534057.2:c.-28C>T, XM_011534057.1:c.-28C>T, XM_047448821.1:c.-28C>T, XM_047448822.1:c.-28C>T

Select item 148366356213.

rs1483663562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:25599527 (GRCh38)
3:25641018 (GRCh37)
Canonical SPDI:: NC_000003.12:25599526:T:C
Gene:: TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25599527T>C, NC_000003.11:g.25641018T>C, NG_029013.3:g.775205T>C, NG_052961.1:g.69846A>G, NM_001068.3:c.4603A>G, NM_001330700.2:c.4618A>G, NM_001330700.1:c.4618A>G, XM_011534057.4:c.4507A>G, XM_011534057.3:c.4507A>G, XM_011534057.2:c.4507A>G, XM_011534057.1:c.4507A>G, XM_047448821.1:c.4492A>G, NP_001059.2:p.Lys1535Glu, NP_001317629.1:p.Lys1540Glu, XP_011532359.1:p.Lys1503Glu, XP_047304777.1:p.Lys1498Glu

Select item 148319685014.

rs1483196850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:25635968 (GRCh38)
3:25677459 (GRCh37)
Canonical SPDI:: NC_000003.12:25635967:C:A,NC_000003.12:25635967:C:T
Gene:: TOP2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25635968C>A, NC_000003.12:g.25635968C>T, NC_000003.11:g.25677459C>A, NC_000003.11:g.25677459C>T, NG_052961.1:g.33405G>T, NG_052961.1:g.33405G>A, NM_001068.3:c.805G>T, NM_001068.3:c.805G>A, NM_001330700.2:c.820G>T, NM_001330700.2:c.820G>A, NM_001330700.1:c.820G>T, NM_001330700.1:c.820G>A, XM_011534057.4:c.820G>T, XM_011534057.4:c.820G>A, XM_011534057.3:c.820G>T, XM_011534057.3:c.820G>A, XM_011534057.2:c.820G>T, XM_011534057.2:c.820G>A, XM_011534057.1:c.820G>T, XM_011534057.1:c.820G>A, XM_047448821.1:c.805G>T, XM_047448821.1:c.805G>A, XM_047448822.1:c.820G>T, XM_047448822.1:c.820G>A, NP_001059.2:p.Val269Phe, NP_001059.2:p.Val269Ile, NP_001317629.1:p.Val274Phe, NP_001317629.1:p.Val274Ile, XP_011532359.1:p.Val274Phe, XP_011532359.1:p.Val274Ile, XP_047304777.1:p.Val269Phe, XP_047304777.1:p.Val269Ile, XP_047304778.1:p.Val274Phe, XP_047304778.1:p.Val274Ile

Select item 148279428415.

rs1482794284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:25598266 (GRCh38)
3:25639757 (GRCh37)
Canonical SPDI:: NC_000003.12:25598265:C:T
Gene:: RARB (Varview), TOP2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.25598266C>T, NC_000003.11:g.25639757C>T, NG_029013.3:g.773944C>T, NG_052961.1:g.71107G>A, NM_001068.3:c.*41G>A, NM_001330700.2:c.*41G>A, NM_001330700.1:c.*41G>A, XM_011534057.4:c.*41G>A, XM_011534057.3:c.*41G>A, XM_011534057.2:c.*41G>A, XM_011534057.1:c.*41G>A, XM_047448821.1:c.*41G>A

Select item 148258246716.

rs1482582467 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>- [Show Flanks]
Chromosome:: 3:25597937 (GRCh38)
3:25639428 (GRCh37)
Canonical SPDI:: NC_000003.12:25597933:GTGTGTG:GTG
Gene:: RARB (Varview), TOP2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.25597935TG[1], NC_000003.11:g.25639426TG[1], NG_029013.3:g.773613TG[1], NG_052961.1:g.71434AC[1], NM_001068.3:c.*368AC[1], XM_011534057.4:c.*368AC[1], XM_047448821.1:c.*368AC[1], NM_001330700.1:c.*368AC[1]