SNP Links for Gene (Select 101928020) - SNP

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Select item 14915732771.

rs1491573277 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:210033696 (GRCh38)
2:210898421 (GRCh37)
Canonical SPDI:: NC_000002.12:210033696::A
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00057/1 (GnomAD)
HGVS:: NC_000002.12:g.210033696_210033697insA, NC_000002.11:g.210898420_210898421insA

Select item 14915199082.

rs1491519908 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 2:210030535 (GRCh38)
2:210895260 (GRCh37)
Canonical SPDI:: NC_000002.12:210030535:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.210030537GT[10], NC_000002.11:g.210895261GT[10]

Select item 14914972813.

rs1491497281 has merged into rs10679778 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:210033706 (GRCh38)
2:210898430 (GRCh37)
Canonical SPDI:: NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:210033695:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.210033706_210033711del, NC_000002.12:g.210033707_210033711del, NC_000002.12:g.210033708_210033711del, NC_000002.12:g.210033709_210033711del, NC_000002.12:g.210033710_210033711del, NC_000002.12:g.210033711del, NC_000002.12:g.210033711dup, NC_000002.12:g.210033710_210033711dup, NC_000002.12:g.210033709_210033711dup, NC_000002.12:g.210033708_210033711dup, NC_000002.12:g.210033707_210033711dup, NC_000002.12:g.210033706_210033711dup, NC_000002.12:g.210033702_210033711dup, NC_000002.12:g.210033700_210033711dup, NC_000002.12:g.210033699_210033711dup, NC_000002.11:g.210898430_210898435del, NC_000002.11:g.210898431_210898435del, NC_000002.11:g.210898432_210898435del, NC_000002.11:g.210898433_210898435del, NC_000002.11:g.210898434_210898435del, NC_000002.11:g.210898435del, NC_000002.11:g.210898435dup, NC_000002.11:g.210898434_210898435dup, NC_000002.11:g.210898433_210898435dup, NC_000002.11:g.210898432_210898435dup, NC_000002.11:g.210898431_210898435dup, NC_000002.11:g.210898430_210898435dup, NC_000002.11:g.210898426_210898435dup, NC_000002.11:g.210898424_210898435dup, NC_000002.11:g.210898423_210898435dup

Select item 14914121104.

rs1491412110 has merged into rs71043968 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 2:210058851 (GRCh38)
2:210923575 (GRCh37)
Canonical SPDI:: NC_000002.12:210058836:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:210058836:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:210058836:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:210058836:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:210058836:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:210058836:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:210058836:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:210058836:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3179/1592 (1000Genomes)
HGVS:: NC_000002.12:g.210058851_210058855del, NC_000002.12:g.210058852_210058855del, NC_000002.12:g.210058853_210058855del, NC_000002.12:g.210058854_210058855del, NC_000002.12:g.210058855del, NC_000002.12:g.210058855dup, NC_000002.12:g.210058854_210058855dup, NC_000002.12:g.210058853_210058855dup, NC_000002.11:g.210923575_210923579del, NC_000002.11:g.210923576_210923579del, NC_000002.11:g.210923577_210923579del, NC_000002.11:g.210923578_210923579del, NC_000002.11:g.210923579del, NC_000002.11:g.210923579dup, NC_000002.11:g.210923578_210923579dup, NC_000002.11:g.210923577_210923579dup

Select item 14913157115.

rs1491315711 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:210058836 (GRCh38)
2:210923560 (GRCh37)
Canonical SPDI:: NC_000002.12:210058835:CA:
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.210058836_210058837del, NC_000002.11:g.210923560_210923561del

Select item 14913111826.

rs1491311182 [Homo sapiens]

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

Select item 14912793247.

rs1491279324 has merged into rs34540957 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTCAATTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:210030510 (GRCh38)
2:210895234 (GRCh37)
Canonical SPDI:: NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:210030499:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTCAATTTTTTTTTTTTTTTTTTT
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.15256/764 (1000Genomes)
HGVS:: NC_000002.12:g.210030510_210030514del, NC_000002.12:g.210030511_210030514del, NC_000002.12:g.210030512_210030514del, NC_000002.12:g.210030513_210030514del, NC_000002.12:g.210030514del, NC_000002.12:g.210030514dup, NC_000002.12:g.210030513_210030514dup, NC_000002.12:g.210030512_210030514dup, NC_000002.12:g.210030511_210030514dup, NC_000002.12:g.210030507_210030514dup, NC_000002.12:g.210030506_210030514dup, NC_000002.12:g.210030502_210030514dup, NC_000002.12:g.210030501_210030514dup, NC_000002.12:g.210030500_210030514dup, NC_000002.12:g.210030514_210030515insTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.210030500_210030514T[34]GTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTCAATTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.210895234_210895238del, NC_000002.11:g.210895235_210895238del, NC_000002.11:g.210895236_210895238del, NC_000002.11:g.210895237_210895238del, NC_000002.11:g.210895238del, NC_000002.11:g.210895238dup, NC_000002.11:g.210895237_210895238dup, NC_000002.11:g.210895236_210895238dup, NC_000002.11:g.210895235_210895238dup, NC_000002.11:g.210895231_210895238dup, NC_000002.11:g.210895230_210895238dup, NC_000002.11:g.210895226_210895238dup, NC_000002.11:g.210895225_210895238dup, NC_000002.11:g.210895224_210895238dup, NC_000002.11:g.210895238_210895239insTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.210895224_210895238T[34]GTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTCAATTTTTTTTTTTTTTTTTTT[1]

Select item 14911586598.

rs1491158659 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:210030534 (GRCh38)
2:210895258 (GRCh37)
Canonical SPDI:: NC_000002.12:210030533:AC:
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000206/23 (GnomAD)
HGVS:: NC_000002.12:g.210030534_210030535del, NC_000002.11:g.210895258_210895259del

Select item 14909903499.

rs1490990349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:210041858 (GRCh38)
2:210906582 (GRCh37)
Canonical SPDI:: NC_000002.12:210041857:T:C
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.210041858T>C, NC_000002.11:g.210906582T>C

Select item 149083578210.

rs1490835782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:210062687 (GRCh38)
2:210927411 (GRCh37)
Canonical SPDI:: NC_000002.12:210062686:C:T
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.210062687C>T, NC_000002.11:g.210927411C>T

Select item 149069933011.

rs1490699330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:210059963 (GRCh38)
2:210924687 (GRCh37)
Canonical SPDI:: NC_000002.12:210059962:G:A
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.210059963G>A, NC_000002.11:g.210924687G>A

Select item 149055932412.

rs1490559324 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:210042988 (GRCh38)
2:210907712 (GRCh37)
Canonical SPDI:: NC_000002.12:210042987:CCCCC:CCCC
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0.000726/11 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000064/9 (GnomAD)
-=0.002455/11 (Estonian)
HGVS:: NC_000002.12:g.210042992del, NC_000002.11:g.210907716del

Select item 149055690413.

rs1490556904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:210057846 (GRCh38)
2:210922570 (GRCh37)
Canonical SPDI:: NC_000002.12:210057845:T:C
Gene:: KANSL1L (Varview), KANSL1L-AS1 (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_000002.12:g.210057846T>C, NC_000002.11:g.210922570T>C

Select item 149050397714.

rs1490503977 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 2:210049559 (GRCh38)
2:210914284 (GRCh37)
Canonical SPDI:: NC_000002.12:210049559:T:TAT
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
TA=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.210049560_210049561insAT, NC_000002.11:g.210914284_210914285insAT

Select item 149048158215.

rs1490481582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:210037503 (GRCh38)
2:210902227 (GRCh37)
Canonical SPDI:: NC_000002.12:210037502:C:T
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.210037503C>T, NC_000002.11:g.210902227C>T

Select item 149045018916.

rs1490450189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:210033475 (GRCh38)
2:210898199 (GRCh37)
Canonical SPDI:: NC_000002.12:210033474:G:A
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.210033475G>A, NC_000002.11:g.210898199G>A

Select item 149044567817.

rs1490445678 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:210040251 (GRCh38)
2:210904975 (GRCh37)
Canonical SPDI:: NC_000002.12:210040250:A:G
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.210040251A>G, NC_000002.11:g.210904975A>G

Select item 149034071518.

rs1490340715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:210057775 (GRCh38)
2:210922499 (GRCh37)
Canonical SPDI:: NC_000002.12:210057774:G:A
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000064/17 (TOPMED)
A=0.000142/2 (TOMMO)
A=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.210057775G>A, NC_000002.11:g.210922499G>A

Select item 149026417119.

rs1490264171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:210056001 (GRCh38)
2:210920725 (GRCh37)
Canonical SPDI:: NC_000002.12:210056000:A:G
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.210056001A>G, NC_000002.11:g.210920725A>G

Select item 149025041020.

rs1490250410 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:210040609 (GRCh38)
2:210905333 (GRCh37)
Canonical SPDI:: NC_000002.12:210040608:T:C,NC_000002.12:210040608:T:G
Gene:: KANSL1L (Varview), KANSL1L-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.210040609T>C, NC_000002.12:g.210040609T>G, NC_000002.11:g.210905333T>C, NC_000002.11:g.210905333T>G

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