SNP Links for Gene (Select 114799) - SNP

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Select item 14915890821.

rs1491589082 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:21536590 (GRCh38)
18:19116551 (GRCh37)
Canonical SPDI:: NC_000018.10:21536589:CA:
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0067/25 (TWINSUK)
-=0.0086/33 (ALSPAC)
HGVS:: NC_000018.10:g.21536590_21536591del, NC_000018.9:g.19116551_19116552del

Select item 14915784722.

rs1491578472 [Homo sapiens]

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

Select item 14915280243.

rs1491528024 has merged into rs200274564 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC,ACACACAC [Show Flanks]
Chromosome:: 18:21579782 (GRCh38)
18:19159743 (GRCh37)
Canonical SPDI:: NC_000018.10:21579771:ACACACACACACAC:ACACACACAC,NC_000018.10:21579771:ACACACACACACAC:ACACACACACAC,NC_000018.10:21579771:ACACACACACACAC:ACACACACACACACAC,NC_000018.10:21579771:ACACACACACACAC:ACACACACACACACACAC
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
-=0.00671/4 (NorthernSweden)
-=0.01961/327 (TOMMO)
HGVS:: NC_000018.10:g.21579772AC[5], NC_000018.10:g.21579772AC[6], NC_000018.10:g.21579772AC[8], NC_000018.10:g.21579772AC[9], NC_000018.9:g.19159733AC[5], NC_000018.9:g.19159733AC[6], NC_000018.9:g.19159733AC[8], NC_000018.9:g.19159733AC[9]

Select item 14915258604.

rs1491525860 has merged into rs781532392 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:21595374 (GRCh38)
18:19175335 (GRCh37)
Canonical SPDI:: NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21595364:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.23684/9 (GENOME_DK)
HGVS:: NC_000018.10:g.21595374_21595386del, NC_000018.10:g.21595375_21595386del, NC_000018.10:g.21595376_21595386del, NC_000018.10:g.21595378_21595386del, NC_000018.10:g.21595379_21595386del, NC_000018.10:g.21595380_21595386del, NC_000018.10:g.21595382_21595386del, NC_000018.10:g.21595383_21595386del, NC_000018.10:g.21595384_21595386del, NC_000018.10:g.21595385_21595386del, NC_000018.10:g.21595386del, NC_000018.10:g.21595386dup, NC_000018.10:g.21595385_21595386dup, NC_000018.10:g.21595384_21595386dup, NC_000018.10:g.21595383_21595386dup, NC_000018.9:g.19175335_19175347del, NC_000018.9:g.19175336_19175347del, NC_000018.9:g.19175337_19175347del, NC_000018.9:g.19175339_19175347del, NC_000018.9:g.19175340_19175347del, NC_000018.9:g.19175341_19175347del, NC_000018.9:g.19175343_19175347del, NC_000018.9:g.19175344_19175347del, NC_000018.9:g.19175345_19175347del, NC_000018.9:g.19175346_19175347del, NC_000018.9:g.19175347del, NC_000018.9:g.19175347dup, NC_000018.9:g.19175346_19175347dup, NC_000018.9:g.19175345_19175347dup, NC_000018.9:g.19175344_19175347dup

Select item 14914342165.

rs1491434216 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:21595364 (GRCh38)
18:19175325 (GRCh37)
Canonical SPDI:: NC_000018.10:21595363:CA:
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000018.10:g.21595364_21595365del, NC_000018.9:g.19175325_19175326del

Select item 14914340536.

rs1491434053 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:21591660 (GRCh38)
18:19171621 (GRCh37)
Canonical SPDI:: NC_000018.10:21591659:CT:
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000018.10:g.21591660_21591661del, NC_000018.9:g.19171621_19171622del

Select item 14914233637.

rs1491423363 has merged into rs35031202 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA [Show Flanks]
Chromosome:: 18:21540025 (GRCh38)
18:19119986 (GRCh37)
Canonical SPDI:: NC_000018.10:21540013:ATATATATATATATATATA:ATATATATATA,NC_000018.10:21540013:ATATATATATATATATATA:ATATATATATATA,NC_000018.10:21540013:ATATATATATATATATATA:ATATATATATATATA,NC_000018.10:21540013:ATATATATATATATATATA:ATATATATATATATATA,NC_000018.10:21540013:ATATATATATATATATATA:ATATATATATATATATATATA,NC_000018.10:21540013:ATATATATATATATATATA:ATATATATATATATATATATATA,NC_000018.10:21540013:ATATATATATATATATATA:ATATATATATATATATATATATATA
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATATA=0./0 (ALFA)
AT=0.05042/845 (TOMMO)
-=0.07525/290 (ALSPAC)
-=0.09917/215 (1000Genomes)
AT=0.215/129 (NorthernSweden)
HGVS:: NC_000018.10:g.21540015TA[5], NC_000018.10:g.21540015TA[6], NC_000018.10:g.21540015TA[7], NC_000018.10:g.21540015TA[8], NC_000018.10:g.21540015TA[10], NC_000018.10:g.21540015TA[11], NC_000018.10:g.21540015TA[12], NC_000018.9:g.19119976TA[5], NC_000018.9:g.19119976TA[6], NC_000018.9:g.19119976TA[7], NC_000018.9:g.19119976TA[8], NC_000018.9:g.19119976TA[10], NC_000018.9:g.19119976TA[11], NC_000018.9:g.19119976TA[12]

Select item 14913932918.

rs1491393291 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 18:21530505 (GRCh38)
18:19110466 (GRCh37)
Canonical SPDI:: NC_000018.10:21530504:TG:
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.01645/61 (TWINSUK)
-=0.01738/67 (ALSPAC)
HGVS:: NC_000018.10:g.21530505_21530506del, NC_000018.9:g.19110466_19110467del

Select item 14913832369.

rs1491383236 has merged into rs59435992 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:21558739 (GRCh38)
18:19138700 (GRCh37)
Canonical SPDI:: NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21558726:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.21558739_21558748del, NC_000018.10:g.21558741_21558748del, NC_000018.10:g.21558743_21558748del, NC_000018.10:g.21558744_21558748del, NC_000018.10:g.21558745_21558748del, NC_000018.10:g.21558746_21558748del, NC_000018.10:g.21558747_21558748del, NC_000018.10:g.21558748del, NC_000018.10:g.21558748dup, NC_000018.10:g.21558747_21558748dup, NC_000018.10:g.21558746_21558748dup, NC_000018.10:g.21558745_21558748dup, NC_000018.9:g.19138700_19138709del, NC_000018.9:g.19138702_19138709del, NC_000018.9:g.19138704_19138709del, NC_000018.9:g.19138705_19138709del, NC_000018.9:g.19138706_19138709del, NC_000018.9:g.19138707_19138709del, NC_000018.9:g.19138708_19138709del, NC_000018.9:g.19138709del, NC_000018.9:g.19138709dup, NC_000018.9:g.19138708_19138709dup, NC_000018.9:g.19138707_19138709dup, NC_000018.9:g.19138706_19138709dup

Select item 149134373510.

rs1491343735 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 18:21540699 (GRCh38)
18:19120660 (GRCh37)
Canonical SPDI:: NC_000018.10:21540698:AC:
Gene:: ESCO1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.21540699_21540700del, NC_000018.9:g.19120660_19120661del, XM_047437286.1:c.1954_1955del, XP_047293242.1:p.Val652fs

Select item 149127326611.

rs1491273266 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 18:21579771 (GRCh38)
18:19159732 (GRCh37)
Canonical SPDI:: NC_000018.10:21579770:GA:
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.21579771_21579772del, NC_000018.9:g.19159732_19159733del

Select item 149123316512.

rs1491233165 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA [Show Flanks]
Chromosome:: 18:21538287 (GRCh38)
18:19118249 (GRCh37)
Canonical SPDI:: NC_000018.10:21538287::TA
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TA=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.21538287_21538288insTA, NC_000018.9:g.19118248_19118249insTA

Select item 149120341313.

rs1491203413 [Homo sapiens]

Variant type:: INS
Alleles:: ->GACTATT [Show Flanks]
Chromosome:: 18:21540699 (GRCh38)
18:19120661 (GRCh37)
Canonical SPDI:: NC_000018.10:21540699::GACTATT
Gene:: ESCO1 (Varview)
Functional Consequence:: inframe_indel,stop_gained,intron_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.21540699_21540700insGACTATT, NC_000018.9:g.19120660_19120661insGACTATT, XM_047437286.1:c.1954_1955insAATAGTC, XP_047293242.1:p.Val652delinsGluTer

Select item 149120042614.

rs1491200426 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 18:21538287 (GRCh38)
18:19118248 (GRCh37)
Canonical SPDI:: NC_000018.10:21538286:TA:
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.21538287_21538288del, NC_000018.9:g.19118248_19118249del

Select item 149119969315.

rs1491199693 has merged into rs1319432247 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 18:21595678 (GRCh38)
18:19175639 (GRCh37)
Canonical SPDI:: NC_000018.10:21595668:AAAAAAAAAAA:AAAAAAAAA,NC_000018.10:21595668:AAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:21595668:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:21595668:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.00047/3 (1000Genomes)
-=0.00095/16 (TOMMO)
HGVS:: NC_000018.10:g.21595678_21595679del, NC_000018.10:g.21595679del, NC_000018.10:g.21595679dup, NC_000018.10:g.21595678_21595679dup, NC_000018.9:g.19175639_19175640del, NC_000018.9:g.19175640del, NC_000018.9:g.19175640dup, NC_000018.9:g.19175639_19175640dup

Select item 149119788916.

rs1491197889 has merged into rs58040604 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:21541603 (GRCh38)
18:19121564 (GRCh37)
Canonical SPDI:: NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.2812/1408 (1000Genomes)
HGVS:: NC_000018.10:g.21541603_21541611del, NC_000018.10:g.21541604_21541611del, NC_000018.10:g.21541606_21541611del, NC_000018.10:g.21541607_21541611del, NC_000018.10:g.21541608_21541611del, NC_000018.10:g.21541609_21541611del, NC_000018.10:g.21541610_21541611del, NC_000018.10:g.21541611del, NC_000018.10:g.21541611dup, NC_000018.10:g.21541610_21541611dup, NC_000018.10:g.21541609_21541611dup, NC_000018.10:g.21541608_21541611dup, NC_000018.10:g.21541605_21541611dup, NC_000018.10:g.21541604_21541611dup, NC_000018.10:g.21541603_21541611dup, NC_000018.10:g.21541600_21541611dup, NC_000018.10:g.21541611_21541612insAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.21541611_21541612insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.19121564_19121572del, NC_000018.9:g.19121565_19121572del, NC_000018.9:g.19121567_19121572del, NC_000018.9:g.19121568_19121572del, NC_000018.9:g.19121569_19121572del, NC_000018.9:g.19121570_19121572del, NC_000018.9:g.19121571_19121572del, NC_000018.9:g.19121572del, NC_000018.9:g.19121572dup, NC_000018.9:g.19121571_19121572dup, NC_000018.9:g.19121570_19121572dup, NC_000018.9:g.19121569_19121572dup, NC_000018.9:g.19121566_19121572dup, NC_000018.9:g.19121565_19121572dup, NC_000018.9:g.19121564_19121572dup, NC_000018.9:g.19121561_19121572dup, NC_000018.9:g.19121572_19121573insAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.19121572_19121573insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149117613517.

rs1491176135 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 18:21541592 (GRCh38)
18:19121553 (GRCh37)
Canonical SPDI:: NC_000018.10:21541591:CA:
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00177/21 (ALFA)
-=0.00065/20 (GnomAD)
HGVS:: NC_000018.10:g.21541592_21541593del, NC_000018.9:g.19121553_19121554del

Select item 149113054818.

rs1491130548 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:21538001 (GRCh38)
18:19117963 (GRCh37)
Canonical SPDI:: NC_000018.10:21538001:T:TT
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.21538002dup, NC_000018.9:g.19117963dup

Select item 149112244819.

rs1491122448 has merged into rs71178186 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 18:21577360 (GRCh38)
18:19157321 (GRCh37)
Canonical SPDI:: NC_000018.10:21577355:TTTTTT:TTTT,NC_000018.10:21577355:TTTTTT:TTTTT,NC_000018.10:21577355:TTTTTT:TTTTTTT,NC_000018.10:21577355:TTTTTT:TTTTTTTT,NC_000018.10:21577355:TTTTTT:TTTTTTTTTTTTTTT
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.2/8 (GENOME_DK)
-=0.2511/4107 (TOMMO)
HGVS:: NC_000018.10:g.21577360_21577361del, NC_000018.10:g.21577361del, NC_000018.10:g.21577361dup, NC_000018.10:g.21577360_21577361dup, NC_000018.10:g.21577361_21577362insTTTTTTTTT, NC_000018.9:g.19157321_19157322del, NC_000018.9:g.19157322del, NC_000018.9:g.19157322dup, NC_000018.9:g.19157321_19157322dup, NC_000018.9:g.19157322_19157323insTTTTTTTTT

Select item 149108319220.

rs1491083192 has merged into rs34643359 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:21591670 (GRCh38)
18:19171631 (GRCh37)
Canonical SPDI:: NC_000018.10:21591660:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:21591660:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:21591660:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:21591660:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:21591660:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:21591660:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:21591660:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:21591660:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:21591660:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:21591660:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ESCO1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
T=0.320288/1604 (1000Genomes)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000018.10:g.21591670_21591675del, NC_000018.10:g.21591671_21591675del, NC_000018.10:g.21591672_21591675del, NC_000018.10:g.21591673_21591675del, NC_000018.10:g.21591674_21591675del, NC_000018.10:g.21591675del, NC_000018.10:g.21591675dup, NC_000018.10:g.21591674_21591675dup, NC_000018.10:g.21591673_21591675dup, NC_000018.10:g.21591667_21591675dup, NC_000018.9:g.19171631_19171636del, NC_000018.9:g.19171632_19171636del, NC_000018.9:g.19171633_19171636del, NC_000018.9:g.19171634_19171636del, NC_000018.9:g.19171635_19171636del, NC_000018.9:g.19171636del, NC_000018.9:g.19171636dup, NC_000018.9:g.19171635_19171636dup, NC_000018.9:g.19171634_19171636dup, NC_000018.9:g.19171628_19171636dup

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