SNP Links for Gene (Select 7155) - SNP

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Select item 14915657411.

rs1491565741 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:25644114 (GRCh38)
3:25685606 (GRCh37)
Canonical SPDI:: NC_000003.12:25644114::A
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.25644114_25644115insA, NC_000003.11:g.25685605_25685606insA, NG_052961.1:g.25258_25259insT

Select item 14915400342.

rs1491540034 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:25620417 (GRCh38)
3:25661909 (GRCh37)
Canonical SPDI:: NC_000003.12:25620417:T:TT
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.25620418dup, NC_000003.11:g.25661909dup, NG_052961.1:g.48955dup

Select item 14914050583.

rs1491405058 has merged into rs11460770 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:25661008 (GRCh38)
3:25702499 (GRCh37)
Canonical SPDI:: NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:25660998:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000003.12:g.25661008_25661017del, NC_000003.12:g.25661010_25661017del, NC_000003.12:g.25661012_25661017del, NC_000003.12:g.25661013_25661017del, NC_000003.12:g.25661014_25661017del, NC_000003.12:g.25661015_25661017del, NC_000003.12:g.25661016_25661017del, NC_000003.12:g.25661017del, NC_000003.12:g.25661017dup, NC_000003.12:g.25661016_25661017dup, NC_000003.12:g.25661015_25661017dup, NC_000003.12:g.25661013_25661017dup, NC_000003.12:g.25661012_25661017dup, NC_000003.11:g.25702499_25702508del, NC_000003.11:g.25702501_25702508del, NC_000003.11:g.25702503_25702508del, NC_000003.11:g.25702504_25702508del, NC_000003.11:g.25702505_25702508del, NC_000003.11:g.25702506_25702508del, NC_000003.11:g.25702507_25702508del, NC_000003.11:g.25702508del, NC_000003.11:g.25702508dup, NC_000003.11:g.25702507_25702508dup, NC_000003.11:g.25702506_25702508dup, NC_000003.11:g.25702504_25702508dup, NC_000003.11:g.25702503_25702508dup, NG_052961.1:g.8365_8374del, NG_052961.1:g.8367_8374del, NG_052961.1:g.8369_8374del, NG_052961.1:g.8370_8374del, NG_052961.1:g.8371_8374del, NG_052961.1:g.8372_8374del, NG_052961.1:g.8373_8374del, NG_052961.1:g.8374del, NG_052961.1:g.8374dup, NG_052961.1:g.8373_8374dup, NG_052961.1:g.8372_8374dup, NG_052961.1:g.8370_8374dup, NG_052961.1:g.8369_8374dup

Select item 14913687594.

rs1491368759 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:25597413 (GRCh38)
3:25638905 (GRCh37)
Canonical SPDI:: NC_000003.12:25597413:TT:TTT
Gene:: RARB (Varview), TOP2B (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.25597415dup, NC_000003.11:g.25638906dup, NG_029013.3:g.773093dup, NM_000965.5:c.*799dup, NM_000965.4:c.*799dup, NM_000965.3:c.*799dup, NM_016152.4:c.*799dup, NM_016152.3:c.*799dup, NM_001290216.3:c.*799dup, NM_001290216.2:c.*799dup, NM_001290216.1:c.*799dup, NM_001290276.2:c.*799dup, NM_001290276.1:c.*799dup, NR_110892.2:n.2454dup, NR_110892.1:n.2454dup, NR_110893.2:n.2410dup, NR_110893.1:n.2410dup, NM_001290266.2:c.*799dup, NM_001290266.1:c.*799dup, NM_001290300.2:c.*799dup, NM_001290300.1:c.*799dup, NM_001290217.2:c.*799dup, NM_001290217.1:c.*799dup, NM_001290277.1:c.*799dup, NG_052961.1:g.71959dup

Select item 14912904555.

rs1491290455 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 3:25634798 (GRCh38)
3:25676289 (GRCh37)
Canonical SPDI:: NC_000003.12:25634797:CC:
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.008962/150 (TOMMO)
-=0.016465/30 (Korea1K)
-=0.045357/5096 (GnomAD)
HGVS:: NC_000003.12:g.25634798_25634799del, NC_000003.11:g.25676289_25676290del, NG_052961.1:g.34574_34575del

Select item 14912560526.

rs1491256052 has merged into rs60844877 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 3:25602426 (GRCh38)
3:25643917 (GRCh37)
Canonical SPDI:: NC_000003.12:25602416:AAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:25602416:AAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:25602416:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:25602416:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:25602416:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:25602416:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.2691/957 (1000Genomes)
HGVS:: NC_000003.12:g.25602426_25602428del, NC_000003.12:g.25602427_25602428del, NC_000003.12:g.25602428del, NC_000003.12:g.25602428dup, NC_000003.12:g.25602427_25602428dup, NC_000003.12:g.25602422_25602428dup, NC_000003.11:g.25643917_25643919del, NC_000003.11:g.25643918_25643919del, NC_000003.11:g.25643919del, NC_000003.11:g.25643919dup, NC_000003.11:g.25643918_25643919dup, NC_000003.11:g.25643913_25643919dup, NG_052961.1:g.66954_66956del, NG_052961.1:g.66955_66956del, NG_052961.1:g.66956del, NG_052961.1:g.66956dup, NG_052961.1:g.66955_66956dup, NG_052961.1:g.66950_66956dup

Select item 14911442447.

rs1491144244 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATA [Show Flanks]
Chromosome:: 3:25622174 (GRCh38)
3:25663666 (GRCh37)
Canonical SPDI:: NC_000003.12:25622174:A:AATA
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: AAT=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.25622175_25622176insATA, NC_000003.11:g.25663666_25663667insATA, NG_052961.1:g.47198_47199insATT

Select item 14911439018.

rs1491143901 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAAAAA,GAA [Show Flanks]
Chromosome:: 3:25634798 (GRCh38)
3:25676290 (GRCh37)
Canonical SPDI:: NC_000003.12:25634798::A,NC_000003.12:25634798::AA,NC_000003.12:25634798::AAA,NC_000003.12:25634798::AAAAAAA,NC_000003.12:25634798::GAA
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AAAAAAA=0.02574/14 (NorthernSweden)
HGVS:: NC_000003.12:g.25634798_25634799insA, NC_000003.12:g.25634798_25634799insAA, NC_000003.12:g.25634798_25634799insAAA, NC_000003.12:g.25634798_25634799insAAAAAAA, NC_000003.12:g.25634798_25634799insGAA, NC_000003.11:g.25676289_25676290insA, NC_000003.11:g.25676289_25676290insAA, NC_000003.11:g.25676289_25676290insAAA, NC_000003.11:g.25676289_25676290insAAAAAAA, NC_000003.11:g.25676289_25676290insGAA, NG_052961.1:g.34574_34575insT, NG_052961.1:g.34574_34575insTT, NG_052961.1:g.34574_34575insTTT, NG_052961.1:g.34574_34575insTTTTTTT, NG_052961.1:g.34574_34575insTTC

Select item 14911198909.

rs1491119890 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:25620417 (GRCh38)
3:25661908 (GRCh37)
Canonical SPDI:: NC_000003.12:25620416:CT:
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.25620417_25620418del, NC_000003.11:g.25661908_25661909del, NG_052961.1:g.48955_48956del

Select item 149110317210.

rs1491103172 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:25660999 (GRCh38)
3:25702491 (GRCh37)
Canonical SPDI:: NC_000003.12:25660999::C
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.25660999_25661000insC, NC_000003.11:g.25702490_25702491insC, NG_052961.1:g.8373_8374insG

Select item 149102009811.

rs1491020098 has merged into rs11444500 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 3:25628077 (GRCh38)
3:25669568 (GRCh37)
Canonical SPDI:: NC_000003.12:25628069:AAAAAAAAA:AAAAAAA,NC_000003.12:25628069:AAAAAAAAA:AAAAAAAA,NC_000003.12:25628069:AAAAAAAAA:AAAAAAAAAA,NC_000003.12:25628069:AAAAAAAAA:AAAAAAAAAAA,NC_000003.12:25628069:AAAAAAAAA:AAAAAAAAAAAA
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.26483/982 (TWINSUK)
A=0.27296/1052 (ALSPAC)
A=0.275/11 (GENOME_DK)
A=0.27577/4622 (TOMMO)
A=0.28295/1417 (1000Genomes)
A=0.29933/179 (NorthernSweden)
HGVS:: NC_000003.12:g.25628077_25628078del, NC_000003.12:g.25628078del, NC_000003.12:g.25628078dup, NC_000003.12:g.25628077_25628078dup, NC_000003.12:g.25628076_25628078dup, NC_000003.11:g.25669568_25669569del, NC_000003.11:g.25669569del, NC_000003.11:g.25669569dup, NC_000003.11:g.25669568_25669569dup, NC_000003.11:g.25669567_25669569dup, NG_052961.1:g.41302_41303del, NG_052961.1:g.41303del, NG_052961.1:g.41303dup, NG_052961.1:g.41302_41303dup, NG_052961.1:g.41301_41303dup

Select item 149098666812.

rs1490986668 has merged into rs908736761 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 3:25651523 (GRCh38)
3:25693014 (GRCh37)
Canonical SPDI:: NC_000003.12:25651522:AAAAAAA:AAAAAA,NC_000003.12:25651522:AAAAAAA:AAAAAAAA
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.00024/4 (TOMMO)
HGVS:: NC_000003.12:g.25651529del, NC_000003.12:g.25651529dup, NC_000003.11:g.25693020del, NC_000003.11:g.25693020dup, NG_052961.1:g.17850del, NG_052961.1:g.17850dup

Select item 149084716413.

rs1490847164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:25614497 (GRCh38)
3:25655988 (GRCh37)
Canonical SPDI:: NC_000003.12:25614496:A:C
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_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_000003.12:g.25614497A>C, NC_000003.11:g.25655988A>C, NG_052961.1:g.54876T>G

Select item 149084554714.

rs1490845547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:25629497 (GRCh38)
3:25670988 (GRCh37)
Canonical SPDI:: NC_000003.12:25629496:C:A,NC_000003.12:25629496:C:T
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.25629497C>A, NC_000003.12:g.25629497C>T, NC_000003.11:g.25670988C>A, NC_000003.11:g.25670988C>T, NG_052961.1:g.39876G>T, NG_052961.1:g.39876G>A

Select item 149081050415.

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 149076724116.

rs1490767241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:25631718 (GRCh38)
3:25673209 (GRCh37)
Canonical SPDI:: NC_000003.12:25631717:T:C
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.25631718T>C, NC_000003.11:g.25673209T>C, NG_052961.1:g.37655A>G

Select item 149074636617.

rs1490746366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:25661224 (GRCh38)
3:25702715 (GRCh37)
Canonical SPDI:: NC_000003.12:25661223:C:G
Gene:: TOP2B (Varview)
Functional Consequence:: 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_000003.12:g.25661224C>G, NC_000003.11:g.25702715C>G, NG_052961.1:g.8149G>C

Select item 149074453818.

rs1490744538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:25605550 (GRCh38)
3:25647041 (GRCh37)
Canonical SPDI:: NC_000003.12:25605549:T:C
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.25605550T>C, NC_000003.11:g.25647041T>C, NG_052961.1:g.63823A>G

Select item 149063757619.

rs1490637576 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:25644733 (GRCh38)
3:25686224 (GRCh37)
Canonical SPDI:: NC_000003.12:25644732:G:A
Gene:: TOP2B (Varview)
Functional Consequence:: intron_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.25644733G>A, NC_000003.11:g.25686224G>A, NG_052961.1:g.24640C>T

Select item 149063012620.

rs1490630126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:25659799 (GRCh38)
3:25701290 (GRCh37)
Canonical SPDI:: NC_000003.12:25659798:T:C
Gene:: TOP2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.25659799T>C, NC_000003.11:g.25701290T>C, NG_052961.1:g.9574A>G

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