SNP Links for Gene (Select 7150) - SNP

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Select item 14915262551.

rs1491526255 has merged into rs561307231 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:41086266 (GRCh38)
20:39714906 (GRCh37)
Canonical SPDI:: NC_000020.11:41086262:AAAAAAAAAAAAAA:AAA,NC_000020.11:41086262:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:41086262:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:41086262:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:41086262:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:41086262:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:41086262:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.05102/30 (NorthernSweden)
HGVS:: NC_000020.11:g.41086266_41086276del, NC_000020.11:g.41086273_41086276del, NC_000020.11:g.41086274_41086276del, NC_000020.11:g.41086275_41086276del, NC_000020.11:g.41086276del, NC_000020.11:g.41086276dup, NC_000020.11:g.41086275_41086276dup, NC_000020.10:g.39714906_39714916del, NC_000020.10:g.39714913_39714916del, NC_000020.10:g.39714914_39714916del, NC_000020.10:g.39714915_39714916del, NC_000020.10:g.39714916del, NC_000020.10:g.39714916dup, NC_000020.10:g.39714915_39714916dup, NG_012262.2:g.62445_62455del, NG_012262.2:g.62452_62455del, NG_012262.2:g.62453_62455del, NG_012262.2:g.62454_62455del, NG_012262.2:g.62455del, NG_012262.2:g.62455dup, NG_012262.2:g.62454_62455dup

Select item 14915106422.

rs1491510642 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:41091552 (GRCh38)
20:39720192 (GRCh37)
Canonical SPDI:: NC_000020.11:41091551:CT:
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004552/54 (ALFA)
-=0.006707/734 (GnomAD)
HGVS:: NC_000020.11:g.41091552_41091553del, NC_000020.10:g.39720192_39720193del, NG_012262.2:g.67731_67732del

Select item 14914913483.

rs1491491348 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:41077970 (GRCh38)
20:39706611 (GRCh37)
Canonical SPDI:: NC_000020.11:41077970:A:AA
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.41077971dup, NC_000020.10:g.39706611dup, NG_012262.2:g.54150dup

Select item 14914443274.

rs1491444327 has merged into rs57349578 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:41077959 (GRCh38)
20:39706599 (GRCh37)
Canonical SPDI:: NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41077948:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
TT=0.4073/2040 (1000Genomes)
HGVS:: NC_000020.11:g.41077959_41077970del, NC_000020.11:g.41077964_41077970del, NC_000020.11:g.41077965_41077970del, NC_000020.11:g.41077966_41077970del, NC_000020.11:g.41077967_41077970del, NC_000020.11:g.41077968_41077970del, NC_000020.11:g.41077969_41077970del, NC_000020.11:g.41077970del, NC_000020.11:g.41077970dup, NC_000020.11:g.41077969_41077970dup, NC_000020.11:g.41077968_41077970dup, NC_000020.11:g.41077966_41077970dup, NC_000020.11:g.41077964_41077970dup, NC_000020.11:g.41077962_41077970dup, NC_000020.11:g.41077961_41077970dup, NC_000020.11:g.41077960_41077970dup, NC_000020.11:g.41077970_41077971insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.39706599_39706610del, NC_000020.10:g.39706604_39706610del, NC_000020.10:g.39706605_39706610del, NC_000020.10:g.39706606_39706610del, NC_000020.10:g.39706607_39706610del, NC_000020.10:g.39706608_39706610del, NC_000020.10:g.39706609_39706610del, NC_000020.10:g.39706610del, NC_000020.10:g.39706610dup, NC_000020.10:g.39706609_39706610dup, NC_000020.10:g.39706608_39706610dup, NC_000020.10:g.39706606_39706610dup, NC_000020.10:g.39706604_39706610dup, NC_000020.10:g.39706602_39706610dup, NC_000020.10:g.39706601_39706610dup, NC_000020.10:g.39706600_39706610dup, NC_000020.10:g.39706610_39706611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012262.2:g.54138_54149del, NG_012262.2:g.54143_54149del, NG_012262.2:g.54144_54149del, NG_012262.2:g.54145_54149del, NG_012262.2:g.54146_54149del, NG_012262.2:g.54147_54149del, NG_012262.2:g.54148_54149del, NG_012262.2:g.54149del, NG_012262.2:g.54149dup, NG_012262.2:g.54148_54149dup, NG_012262.2:g.54147_54149dup, NG_012262.2:g.54145_54149dup, NG_012262.2:g.54143_54149dup, NG_012262.2:g.54141_54149dup, NG_012262.2:g.54140_54149dup, NG_012262.2:g.54139_54149dup, NG_012262.2:g.54149_54150insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914214175.

rs1491421417 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:41077948 (GRCh38)
20:39706588 (GRCh37)
Canonical SPDI:: NC_000020.11:41077947:AT:
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000143/16 (GnomAD)
-=0.000212/6 (TOMMO)
HGVS:: NC_000020.11:g.41077948_41077949del, NC_000020.10:g.39706588_39706589del, NG_012262.2:g.54127_54128del

Select item 14914046006.

rs1491404600 [Homo sapiens]

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

Select item 14914013267.

rs1491401326 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:41073373 (GRCh38)
20:39702014 (GRCh37)
Canonical SPDI:: NC_000020.11:41073373:G:GG
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000020.11:g.41073374dup, NC_000020.10:g.39702014dup, NG_012262.2:g.49553dup

Select item 14913914948.

rs1491391494 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 20:41088525 (GRCh38)
20:39717165 (GRCh37)
Canonical SPDI:: NC_000020.11:41088521:AAAAA:AAA
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.41088525_41088526del, NC_000020.10:g.39717165_39717166del, NG_012262.2:g.64704_64705del

Select item 14913848639.

rs1491384863 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 20:41089042 (GRCh38)
20:39717682 (GRCh37)
Canonical SPDI:: NC_000020.11:41089041:TG:
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000020.11:g.41089042_41089043del, NC_000020.10:g.39717682_39717683del, NG_012262.2:g.65221_65222del

Select item 149134531510.

rs1491345315 has merged into rs776922601 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:41066565 (GRCh38)
20:39695205 (GRCh37)
Canonical SPDI:: NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:41066557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.41066565_41066574del, NC_000020.11:g.41066566_41066574del, NC_000020.11:g.41066567_41066574del, NC_000020.11:g.41066568_41066574del, NC_000020.11:g.41066570_41066574del, NC_000020.11:g.41066571_41066574del, NC_000020.11:g.41066572_41066574del, NC_000020.11:g.41066573_41066574del, NC_000020.11:g.41066574del, NC_000020.11:g.41066574dup, NC_000020.11:g.41066573_41066574dup, NC_000020.11:g.41066572_41066574dup, NC_000020.11:g.41066571_41066574dup, NC_000020.11:g.41066570_41066574dup, NC_000020.11:g.41066569_41066574dup, NC_000020.11:g.41066568_41066574dup, NC_000020.11:g.41066567_41066574dup, NC_000020.11:g.41066566_41066574dup, NC_000020.11:g.41066565_41066574dup, NC_000020.11:g.41066564_41066574dup, NC_000020.11:g.41066563_41066574dup, NC_000020.11:g.41066562_41066574dup, NC_000020.11:g.41066560_41066574dup, NC_000020.11:g.41066559_41066574dup, NC_000020.11:g.41066558_41066574dup, NC_000020.10:g.39695205_39695214del, NC_000020.10:g.39695206_39695214del, NC_000020.10:g.39695207_39695214del, NC_000020.10:g.39695208_39695214del, NC_000020.10:g.39695210_39695214del, NC_000020.10:g.39695211_39695214del, NC_000020.10:g.39695212_39695214del, NC_000020.10:g.39695213_39695214del, NC_000020.10:g.39695214del, NC_000020.10:g.39695214dup, NC_000020.10:g.39695213_39695214dup, NC_000020.10:g.39695212_39695214dup, NC_000020.10:g.39695211_39695214dup, NC_000020.10:g.39695210_39695214dup, NC_000020.10:g.39695209_39695214dup, NC_000020.10:g.39695208_39695214dup, NC_000020.10:g.39695207_39695214dup, NC_000020.10:g.39695206_39695214dup, NC_000020.10:g.39695205_39695214dup, NC_000020.10:g.39695204_39695214dup, NC_000020.10:g.39695203_39695214dup, NC_000020.10:g.39695202_39695214dup, NC_000020.10:g.39695200_39695214dup, NC_000020.10:g.39695199_39695214dup, NC_000020.10:g.39695198_39695214dup, NG_012262.2:g.42744_42753del, NG_012262.2:g.42745_42753del, NG_012262.2:g.42746_42753del, NG_012262.2:g.42747_42753del, NG_012262.2:g.42749_42753del, NG_012262.2:g.42750_42753del, NG_012262.2:g.42751_42753del, NG_012262.2:g.42752_42753del, NG_012262.2:g.42753del, NG_012262.2:g.42753dup, NG_012262.2:g.42752_42753dup, NG_012262.2:g.42751_42753dup, NG_012262.2:g.42750_42753dup, NG_012262.2:g.42749_42753dup, NG_012262.2:g.42748_42753dup, NG_012262.2:g.42747_42753dup, NG_012262.2:g.42746_42753dup, NG_012262.2:g.42745_42753dup, NG_012262.2:g.42744_42753dup, NG_012262.2:g.42743_42753dup, NG_012262.2:g.42742_42753dup, NG_012262.2:g.42741_42753dup, NG_012262.2:g.42739_42753dup, NG_012262.2:g.42738_42753dup, NG_012262.2:g.42737_42753dup

Select item 149129900411.

rs1491299004 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAA [Show Flanks]
Chromosome:: 20:41088522 (GRCh38)
20:39717163 (GRCh37)
Canonical SPDI:: NC_000020.11:41088522:AA:AATGAA
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATGAA=0./0 (ALFA)
AATG=0.000004/1 (TOPMED)
AATG=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.41088524_41088525insTGAA, NC_000020.10:g.39717164_39717165insTGAA, NG_012262.2:g.64703_64704insTGAA

Select item 149128049112.

rs1491280491 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 20:41032238 (GRCh38)
20:39660878 (GRCh37)
Canonical SPDI:: NC_000020.11:41032237:TC:
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.41032238_41032239del, NC_000020.10:g.39660878_39660879del, NG_012262.2:g.8417_8418del

Select item 149125672013.

rs1491256720 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:41077970 (GRCh38)
20:39706610 (GRCh37)
Canonical SPDI:: NC_000020.11:41077969:TA:
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000422/5 (ALFA)
-=0.000148/17 (GnomAD)
HGVS:: NC_000020.11:g.41077970_41077971del, NC_000020.10:g.39706610_39706611del, NG_012262.2:g.54149_54150del

Select item 149124352214.

rs1491243522 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:41065384 (GRCh38)
20:39694024 (GRCh37)
Canonical SPDI:: NC_000020.11:41065382:TAT:T
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000020.11:g.41065384_41065385del, NC_000020.10:g.39694024_39694025del, NG_012262.2:g.41563_41564del

Select item 149119053815.

rs1491190538 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:41100275 (GRCh38)
20:39728915 (GRCh37)
Canonical SPDI:: NC_000020.11:41100274:AG:
Gene:: TOP1 (Varview), PLCG1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000009/1 (ExAC)
-=0.000017/4 (GnomAD_exomes)
-=0.000064/9 (GnomAD)
-=0.000087/23 (TOPMED)
-=0.00016/2 (GoESP)
HGVS:: NC_000020.11:g.41100275_41100276del, NC_000020.10:g.39728915_39728916del, NG_012262.2:g.76454_76455del

Select item 149114370016.

rs1491143700 has merged into rs58729802 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:41040813 (GRCh38)
20:39669453 (GRCh37)
Canonical SPDI:: NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:41040803:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.41040813_41040824del, NC_000020.11:g.41040814_41040824del, NC_000020.11:g.41040815_41040824del, NC_000020.11:g.41040816_41040824del, NC_000020.11:g.41040817_41040824del, NC_000020.11:g.41040818_41040824del, NC_000020.11:g.41040819_41040824del, NC_000020.11:g.41040820_41040824del, NC_000020.11:g.41040821_41040824del, NC_000020.11:g.41040822_41040824del, NC_000020.11:g.41040823_41040824del, NC_000020.11:g.41040824del, NC_000020.11:g.41040824dup, NC_000020.11:g.41040823_41040824dup, NC_000020.11:g.41040822_41040824dup, NC_000020.11:g.41040821_41040824dup, NC_000020.11:g.41040820_41040824dup, NC_000020.11:g.41040824_41040825insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.39669453_39669464del, NC_000020.10:g.39669454_39669464del, NC_000020.10:g.39669455_39669464del, NC_000020.10:g.39669456_39669464del, NC_000020.10:g.39669457_39669464del, NC_000020.10:g.39669458_39669464del, NC_000020.10:g.39669459_39669464del, NC_000020.10:g.39669460_39669464del, NC_000020.10:g.39669461_39669464del, NC_000020.10:g.39669462_39669464del, NC_000020.10:g.39669463_39669464del, NC_000020.10:g.39669464del, NC_000020.10:g.39669464dup, NC_000020.10:g.39669463_39669464dup, NC_000020.10:g.39669462_39669464dup, NC_000020.10:g.39669461_39669464dup, NC_000020.10:g.39669460_39669464dup, NC_000020.10:g.39669464_39669465insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012262.2:g.16992_17003del, NG_012262.2:g.16993_17003del, NG_012262.2:g.16994_17003del, NG_012262.2:g.16995_17003del, NG_012262.2:g.16996_17003del, NG_012262.2:g.16997_17003del, NG_012262.2:g.16998_17003del, NG_012262.2:g.16999_17003del, NG_012262.2:g.17000_17003del, NG_012262.2:g.17001_17003del, NG_012262.2:g.17002_17003del, NG_012262.2:g.17003del, NG_012262.2:g.17003dup, NG_012262.2:g.17002_17003dup, NG_012262.2:g.17001_17003dup, NG_012262.2:g.17000_17003dup, NG_012262.2:g.16999_17003dup, NG_012262.2:g.17003_17004insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149109824717.

rs1491098247 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:41065383 (GRCh38)
20:39694024 (GRCh37)
Canonical SPDI:: NC_000020.11:41065383:A:AA
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.41065384dup, NC_000020.10:g.39694024dup, NG_012262.2:g.41563dup

Select item 149105386118.

rs1491053861 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:41040825 (GRCh38)
20:39669465 (GRCh37)
Canonical SPDI:: NC_000020.11:41040823:AGA:A
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.41040825_41040826del, NC_000020.10:g.39669465_39669466del, NG_012262.2:g.17004_17005del

Select item 149097900719.

rs1490979007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:41077838 (GRCh38)
20:39706478 (GRCh37)
Canonical SPDI:: NC_000020.11:41077837:A:G
Gene:: TOP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.41077838A>G, NC_000020.10:g.39706478A>G, NG_012262.2:g.54017A>G

Select item 149095232620.

rs1490952326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:41028778 (GRCh38)
20:39657418 (GRCh37)
Canonical SPDI:: NC_000020.11:41028777:C:T
Gene:: TOP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000020.11:g.41028778C>T, NC_000020.10:g.39657418C>T, NG_012262.2:g.4957C>T, NG_046380.1:g.321C>T

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