SNP Links for Gene (Select 27333) - SNP

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Select item 14915738851.

rs1491573885 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:168033607 (GRCh38)
3:167751396 (GRCh37)
Canonical SPDI:: NC_000003.12:168033607::G
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00007/3 (GnomAD)
G=0.00034/5 (TOMMO)
HGVS:: NC_000003.12:g.168033607_168033608insG, NC_000003.11:g.167751395_167751396insG

Select item 14915283872.

rs1491528387 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATAAT [Show Flanks]
Chromosome:: 3:168050843 (GRCh38)
3:167768632 (GRCh37)
Canonical SPDI:: NC_000003.12:168050843:ATAAT:ATAATGATAAT
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAATGATAAT=0./0 (ALFA)
ATAATG=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.168050848_168050849insGATAAT, NC_000003.11:g.167768636_167768637insGATAAT

Select item 14914392793.

rs1491439279 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:168039264 (GRCh38)
3:167757052 (GRCh37)
Canonical SPDI:: NC_000003.12:168039263:AT:
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001265/15 (ALFA)
-=0.001704/227 (GnomAD)
HGVS:: NC_000003.12:g.168039264_168039265del, NC_000003.11:g.167757052_167757053del

Select item 14913635704.

rs1491363570 has merged into rs558179583 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:168089778 (GRCh38)
3:167807566 (GRCh37)
Canonical SPDI:: NC_000003.12:168089769:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:168089769:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:168089769:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:168089769:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:168089769:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:168089769:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:168089769:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:168089769:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:168089769:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.10962/549 (1000Genomes)
HGVS:: NC_000003.12:g.168089778_168089786del, NC_000003.12:g.168089779_168089786del, NC_000003.12:g.168089783_168089786del, NC_000003.12:g.168089784_168089786del, NC_000003.12:g.168089785_168089786del, NC_000003.12:g.168089786del, NC_000003.12:g.168089786dup, NC_000003.12:g.168089785_168089786dup, NC_000003.12:g.168089784_168089786dup, NC_000003.11:g.167807566_167807574del, NC_000003.11:g.167807567_167807574del, NC_000003.11:g.167807571_167807574del, NC_000003.11:g.167807572_167807574del, NC_000003.11:g.167807573_167807574del, NC_000003.11:g.167807574del, NC_000003.11:g.167807574dup, NC_000003.11:g.167807573_167807574dup, NC_000003.11:g.167807572_167807574dup

Select item 14913285975.

rs1491328597 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:168050261 (GRCh38)
3:167768049 (GRCh37)
Canonical SPDI:: NC_000003.12:168050260:TA:
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000003.12:g.168050261_168050262del, NC_000003.11:g.167768049_167768050del

Select item 14912533416.

rs1491253341 has merged into rs11411251 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:168030522 (GRCh38)
3:167748310 (GRCh37)
Canonical SPDI:: NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168030510:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3295/1650 (1000Genomes)
HGVS:: NC_000003.12:g.168030522_168030529del, NC_000003.12:g.168030524_168030529del, NC_000003.12:g.168030525_168030529del, NC_000003.12:g.168030526_168030529del, NC_000003.12:g.168030527_168030529del, NC_000003.12:g.168030528_168030529del, NC_000003.12:g.168030529del, NC_000003.12:g.168030529dup, NC_000003.12:g.168030528_168030529dup, NC_000003.12:g.168030527_168030529dup, NC_000003.12:g.168030526_168030529dup, NC_000003.12:g.168030524_168030529dup, NC_000003.12:g.168030521_168030529dup, NC_000003.12:g.168030520_168030529dup, NC_000003.12:g.168030519_168030529dup, NC_000003.12:g.168030518_168030529dup, NC_000003.12:g.168030516_168030529dup, NC_000003.12:g.168030515_168030529dup, NC_000003.12:g.168030514_168030529dup, NC_000003.12:g.168030529_168030530insAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.168030529_168030530insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.167748310_167748317del, NC_000003.11:g.167748312_167748317del, NC_000003.11:g.167748313_167748317del, NC_000003.11:g.167748314_167748317del, NC_000003.11:g.167748315_167748317del, NC_000003.11:g.167748316_167748317del, NC_000003.11:g.167748317del, NC_000003.11:g.167748317dup, NC_000003.11:g.167748316_167748317dup, NC_000003.11:g.167748315_167748317dup, NC_000003.11:g.167748314_167748317dup, NC_000003.11:g.167748312_167748317dup, NC_000003.11:g.167748309_167748317dup, NC_000003.11:g.167748308_167748317dup, NC_000003.11:g.167748307_167748317dup, NC_000003.11:g.167748306_167748317dup, NC_000003.11:g.167748304_167748317dup, NC_000003.11:g.167748303_167748317dup, NC_000003.11:g.167748302_167748317dup, NC_000003.11:g.167748317_167748318insAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.167748317_167748318insAAAAAAAAAAAAAAAAAAAAA

Select item 14912485517.

rs1491248551 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:168050843 (GRCh38)
3:167768631 (GRCh37)
Canonical SPDI:: NC_000003.12:168050842:AA:
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.168050843_168050844del, NC_000003.11:g.167768631_167768632del

Select item 14911703558.

rs1491170355 has merged into rs61728774 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:168033619 (GRCh38)
3:167751407 (GRCh37)
Canonical SPDI:: NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168033606:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAA=0.475/19 (GENOME_DK)
HGVS:: NC_000003.12:g.168033619_168033641del, NC_000003.12:g.168033620_168033641del, NC_000003.12:g.168033621_168033641del, NC_000003.12:g.168033622_168033641del, NC_000003.12:g.168033623_168033641del, NC_000003.12:g.168033624_168033641del, NC_000003.12:g.168033625_168033641del, NC_000003.12:g.168033626_168033641del, NC_000003.12:g.168033627_168033641del, NC_000003.12:g.168033628_168033641del, NC_000003.12:g.168033629_168033641del, NC_000003.12:g.168033630_168033641del, NC_000003.12:g.168033631_168033641del, NC_000003.12:g.168033632_168033641del, NC_000003.12:g.168033633_168033641del, NC_000003.12:g.168033634_168033641del, NC_000003.12:g.168033635_168033641del, NC_000003.12:g.168033636_168033641del, NC_000003.12:g.168033637_168033641del, NC_000003.12:g.168033638_168033641del, NC_000003.12:g.168033639_168033641del, NC_000003.12:g.168033640_168033641del, NC_000003.12:g.168033641del, NC_000003.12:g.168033641dup, NC_000003.12:g.168033640_168033641dup, NC_000003.12:g.168033639_168033641dup, NC_000003.12:g.168033638_168033641dup, NC_000003.12:g.168033634_168033641dup, NC_000003.12:g.168033632_168033641dup, NC_000003.12:g.168033631_168033641dup, NC_000003.12:g.168033630_168033641dup, NC_000003.12:g.168033628_168033641dup, NC_000003.12:g.168033627_168033641dup, NC_000003.12:g.168033625_168033641dup, NC_000003.12:g.168033624_168033641dup, NC_000003.12:g.168033621_168033641dup, NC_000003.12:g.168033620_168033641dup, NC_000003.12:g.168033618_168033641dup, NC_000003.12:g.168033616_168033641dup, NC_000003.12:g.168033614_168033641dup, NC_000003.11:g.167751407_167751429del, NC_000003.11:g.167751408_167751429del, NC_000003.11:g.167751409_167751429del, NC_000003.11:g.167751410_167751429del, NC_000003.11:g.167751411_167751429del, NC_000003.11:g.167751412_167751429del, NC_000003.11:g.167751413_167751429del, NC_000003.11:g.167751414_167751429del, NC_000003.11:g.167751415_167751429del, NC_000003.11:g.167751416_167751429del, NC_000003.11:g.167751417_167751429del, NC_000003.11:g.167751418_167751429del, NC_000003.11:g.167751419_167751429del, NC_000003.11:g.167751420_167751429del, NC_000003.11:g.167751421_167751429del, NC_000003.11:g.167751422_167751429del, NC_000003.11:g.167751423_167751429del, NC_000003.11:g.167751424_167751429del, NC_000003.11:g.167751425_167751429del, NC_000003.11:g.167751426_167751429del, NC_000003.11:g.167751427_167751429del, NC_000003.11:g.167751428_167751429del, NC_000003.11:g.167751429del, NC_000003.11:g.167751429dup, NC_000003.11:g.167751428_167751429dup, NC_000003.11:g.167751427_167751429dup, NC_000003.11:g.167751426_167751429dup, NC_000003.11:g.167751422_167751429dup, NC_000003.11:g.167751420_167751429dup, NC_000003.11:g.167751419_167751429dup, NC_000003.11:g.167751418_167751429dup, NC_000003.11:g.167751416_167751429dup, NC_000003.11:g.167751415_167751429dup, NC_000003.11:g.167751413_167751429dup, NC_000003.11:g.167751412_167751429dup, NC_000003.11:g.167751409_167751429dup, NC_000003.11:g.167751408_167751429dup, NC_000003.11:g.167751406_167751429dup, NC_000003.11:g.167751404_167751429dup, NC_000003.11:g.167751402_167751429dup

Select item 14911628229.

rs1491162822 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:168044889 (GRCh38)
3:167762677 (GRCh37)
Canonical SPDI:: NC_000003.12:168044888:TC:
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0005/2 (ALFA)
HGVS:: NC_000003.12:g.168044889_168044890del, NC_000003.11:g.167762677_167762678del

Select item 149107388110.

rs1491073881 has merged into rs10628217 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACA>-,CACA,CACACA,CACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA [Show Flanks]
Chromosome:: 3:168037463 (GRCh38)
3:167755251 (GRCh37)
Canonical SPDI:: NC_000003.12:168037451:ACACACACACACACACACACA:ACACACACACA,NC_000003.12:168037451:ACACACACACACACACACACA:ACACACACACACACA,NC_000003.12:168037451:ACACACACACACACACACACA:ACACACACACACACACA,NC_000003.12:168037451:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000003.12:168037451:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000003.12:168037451:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000003.12:168037451:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000003.12:168037451:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000003.12:168037451:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACA=0./0 (ALFA)
AC=0.485/291 (NorthernSweden)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000003.12:g.168037453CA[5], NC_000003.12:g.168037453CA[7], NC_000003.12:g.168037453CA[8], NC_000003.12:g.168037453CA[9], NC_000003.12:g.168037453CA[11], NC_000003.12:g.168037453CA[12], NC_000003.12:g.168037453CA[13], NC_000003.12:g.168037453CA[14], NC_000003.12:g.168037453CA[15], NC_000003.11:g.167755241CA[5], NC_000003.11:g.167755241CA[7], NC_000003.11:g.167755241CA[8], NC_000003.11:g.167755241CA[9], NC_000003.11:g.167755241CA[11], NC_000003.11:g.167755241CA[12], NC_000003.11:g.167755241CA[13], NC_000003.11:g.167755241CA[14], NC_000003.11:g.167755241CA[15]

Select item 149104858811.

rs1491048588 has merged into rs35330464 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA [Show Flanks]
Chromosome:: 3:168067537 (GRCh38)
3:167785325 (GRCh37)
Canonical SPDI:: NC_000003.12:168067525:ACACACACACACACA:ACACACACACA,NC_000003.12:168067525:ACACACACACACACA:ACACACACACACA,NC_000003.12:168067525:ACACACACACACACA:ACACACACACACACACA,NC_000003.12:168067525:ACACACACACACACA:ACACACACACACACACACA
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
AC=0.00025/4 (TOMMO)
HGVS:: NC_000003.12:g.168067527CA[5], NC_000003.12:g.168067527CA[6], NC_000003.12:g.168067527CA[8], NC_000003.12:g.168067527CA[9], NC_000003.11:g.167785315CA[5], NC_000003.11:g.167785315CA[6], NC_000003.11:g.167785315CA[8], NC_000003.11:g.167785315CA[9]

Select item 149104784912.

rs1491047849 has merged into rs10663226 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 3:168046816 (GRCh38)
3:167764604 (GRCh37)
Canonical SPDI:: NC_000003.12:168046806:AAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:168046806:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:168046806:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:168046806:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:168046806:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:168046806:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:168046806:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:168046806:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:168046806:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.2436/1220 (1000Genomes)
AA=0.2691/1037 (ALSPAC)
AA=0.2783/1032 (TWINSUK)
HGVS:: NC_000003.12:g.168046816_168046819del, NC_000003.12:g.168046817_168046819del, NC_000003.12:g.168046818_168046819del, NC_000003.12:g.168046819del, NC_000003.12:g.168046819dup, NC_000003.12:g.168046818_168046819dup, NC_000003.12:g.168046817_168046819dup, NC_000003.12:g.168046816_168046819dup, NC_000003.12:g.168046815_168046819dup, NC_000003.11:g.167764604_167764607del, NC_000003.11:g.167764605_167764607del, NC_000003.11:g.167764606_167764607del, NC_000003.11:g.167764607del, NC_000003.11:g.167764607dup, NC_000003.11:g.167764606_167764607dup, NC_000003.11:g.167764605_167764607dup, NC_000003.11:g.167764604_167764607dup, NC_000003.11:g.167764603_167764607dup

Select item 149103146313.

rs1491031463 has merged into rs34547783 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 3:168019961 (GRCh38)
3:167737749 (GRCh37)
Canonical SPDI:: NC_000003.12:168019953:AAAAAAAAA:AAAAAAA,NC_000003.12:168019953:AAAAAAAAA:AAAAAAAA,NC_000003.12:168019953:AAAAAAAAA:AAAAAAAAAA
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0.000311/4 (ALFA)
-=0.03452/128 (TWINSUK)
-=0.038076/38 (GoNL)
-=0.039699/153 (ALSPAC)
-=0.04/24 (NorthernSweden)
-=0.075/3 (GENOME_DK)
-=0.236647/62638 (TOPMED)
-=0.246073/1222 (1000Genomes)
HGVS:: NC_000003.12:g.168019961_168019962del, NC_000003.12:g.168019962del, NC_000003.12:g.168019962dup, NC_000003.11:g.167737749_167737750del, NC_000003.11:g.167737750del, NC_000003.11:g.167737750dup

Select item 149102747314.

rs1491027473 has merged into rs11426013 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 3:168039278 (GRCh38)
3:167757066 (GRCh37)
Canonical SPDI:: NC_000003.12:168039264:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:168039264:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:168039264:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:168039264:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:168039264:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.16388/98 (NorthernSweden)
T=0.16673/835 (1000Genomes)
T=0.325/13 (GENOME_DK)
HGVS:: NC_000003.12:g.168039278_168039280del, NC_000003.12:g.168039279_168039280del, NC_000003.12:g.168039280del, NC_000003.12:g.168039280dup, NC_000003.12:g.168039279_168039280dup, NC_000003.11:g.167757066_167757068del, NC_000003.11:g.167757067_167757068del, NC_000003.11:g.167757068del, NC_000003.11:g.167757068dup, NC_000003.11:g.167757067_167757068dup

Select item 149100714615.

rs1491007146 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:168096281 (GRCh38)
3:167814069 (GRCh37)
Canonical SPDI:: NC_000003.12:168096280:TT:
Gene:: GOLIM4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000003.12:g.168096281_168096282del, NC_000003.11:g.167814069_167814070del

Select item 149098897516.

rs1490988975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:168009967 (GRCh38)
3:167727755 (GRCh37)
Canonical SPDI:: NC_000003.12:168009966:T:C
Gene:: GOLIM4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00006/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000156/1 (1000Genomes)
C=0.000371/52 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.168009967T>C, NC_000003.11:g.167727755T>C, NM_014498.5:c.*302A>G, NM_014498.4:c.*302A>G, NM_014498.3:c.*302A>G, XM_005247364.4:c.*302A>G, XM_005247364.3:c.*302A>G, XM_005247364.2:c.*302A>G, XM_005247364.1:c.*302A>G, XM_005247365.4:c.*302A>G, XM_005247365.3:c.*302A>G, XM_005247365.2:c.*302A>G, XM_005247365.1:c.*302A>G, NM_001308155.2:c.*302A>G, NM_001308155.1:c.*302A>G, XM_047447978.1:c.*302A>G

Select item 149095403017.

rs1490954030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:168073812 (GRCh38)
3:167791600 (GRCh37)
Canonical SPDI:: NC_000003.12:168073811:G:C
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.168073812G>C, NC_000003.11:g.167791600G>C

Select item 149093486518.

rs1490934865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:168035756 (GRCh38)
3:167753544 (GRCh37)
Canonical SPDI:: NC_000003.12:168035755:A:G
Gene:: GOLIM4 (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.168035756A>G, NC_000003.11:g.167753544A>G

Select item 149091057019.

rs1490910570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:168058399 (GRCh38)
3:167776187 (GRCh37)
Canonical SPDI:: NC_000003.12:168058398:T:C
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.168058399T>C, NC_000003.11:g.167776187T>C

Select item 149088986820.

rs1490889868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:168051461 (GRCh38)
3:167769249 (GRCh37)
Canonical SPDI:: NC_000003.12:168051460:A:C
Gene:: GOLIM4 (Varview)
Functional Consequence:: intron_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.168051461A>C, NC_000003.11:g.167769249A>C

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