SNP Links for Gene (Select 101928604) - SNP

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Select item 14914675001.

rs1491467500 has merged into rs59953663 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 20:63820443 (GRCh38)
20:62451796 (GRCh37)
Canonical SPDI:: NC_000020.11:63820431:TATATATATATAT:TATATATATAT,NC_000020.11:63820431:TATATATATATAT:TATATATATATATAT,NC_000020.11:63820431:TATATATATATAT:TATATATATATATATAT,NC_000020.11:63820431:TATATATATATAT:TATATATATATATATATAT
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TA=0.04732/212 (Estonian)
TA=0.08/48 (NorthernSweden)
TA=0.08818/88 (GoNL)
TA=0.175/7 (GENOME_DK)
HGVS:: NC_000020.11:g.63820433AT[5], NC_000020.11:g.63820433AT[7], NC_000020.11:g.63820433AT[8], NC_000020.11:g.63820433AT[9], NC_000020.10:g.62451786AT[5], NC_000020.10:g.62451786AT[7], NC_000020.10:g.62451786AT[8], NC_000020.10:g.62451786AT[9]

Select item 14913847742.

rs1491384774 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCACAGGTGCAGTGGGCACAGGTG [Show Flanks]
Chromosome:: 20:63815944 (GRCh38)
20:62447298 (GRCh37)
Canonical SPDI:: NC_000020.11:63815944:CAGTGGGCACAGGTG:CAGTGGGCACAGGTGGGCACAGGTGCAGTGGGCACAGGTG
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGTGGGCACAGGTGGGCACAGGTGCAGTGGGCACAGGTG=0./0 (ALFA)
CAGTGGGCACAGGTGGGCACAGGTG=0.00366/322 (GnomAD)
HGVS:: NC_000020.11:g.63815959_63815960insGGCACAGGTGCAGTGGGCACAGGTG, NC_000020.10:g.62447312_62447313insGGCACAGGTGCAGTGGGCACAGGTG

Select item 14912258423.

rs1491225842 [Homo sapiens]

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

Select item 14912121854.

rs1491212185 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:63815945 (GRCh38)
20:62447298 (GRCh37)
Canonical SPDI:: NC_000020.11:63815943:ACA:A
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000054/1 (ALFA)
-=0.000028/3 (GnomAD)
HGVS:: NC_000020.11:g.63815945_63815946del, NC_000020.10:g.62447298_62447299del, NM_017962.1:c.140_141del

Select item 14912004855.

rs1491200485 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:63822222 (GRCh38)
20:62453575 (GRCh37)
Canonical SPDI:: NC_000020.11:63822219:CACA:CA
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0.000142/2 (ALFA)
-=0.000114/16 (GnomAD)
-=0.000249/66 (TOPMED)
HGVS:: NC_000020.11:g.63822220CA[1], NC_000020.10:g.62453573CA[1], NR_110081.1:n.301CA[1]

Select item 14911741896.

rs1491174189 has merged into rs1203809736 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:63809012 (GRCh38)
20:62440365 (GRCh37)
Canonical SPDI:: NC_000020.11:63809006:AAAAAAAAAAAA:AAAAA,NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAA,NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:63809006:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
A=0.012623/23 (Korea1K)
HGVS:: NC_000020.11:g.63809012_63809018del, NC_000020.11:g.63809015_63809018del, NC_000020.11:g.63809017_63809018del, NC_000020.11:g.63809018del, NC_000020.11:g.63809018dup, NC_000020.11:g.63809017_63809018dup, NC_000020.11:g.63809016_63809018dup, NC_000020.11:g.63809014_63809018dup, NC_000020.11:g.63809012_63809018dup, NC_000020.10:g.62440365_62440371del, NC_000020.10:g.62440368_62440371del, NC_000020.10:g.62440370_62440371del, NC_000020.10:g.62440371del, NC_000020.10:g.62440371dup, NC_000020.10:g.62440370_62440371dup, NC_000020.10:g.62440369_62440371dup, NC_000020.10:g.62440367_62440371dup, NC_000020.10:g.62440365_62440371dup

Select item 14910734667.

rs1491073466 has merged into rs35043743 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 20:63813454 (GRCh38)
20:62444807 (GRCh37)
Canonical SPDI:: NC_000020.11:63813447:AAAAAAAAAAAA:AAAAAA,NC_000020.11:63813447:AAAAAAAAAAAA:AAAAAAAA,NC_000020.11:63813447:AAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:63813447:AAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:63813447:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:63813447:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:63813447:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:63813447:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:63813447:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AA=0.15/6 (GENOME_DK)
HGVS:: NC_000020.11:g.63813454_63813459del, NC_000020.11:g.63813456_63813459del, NC_000020.11:g.63813457_63813459del, NC_000020.11:g.63813458_63813459del, NC_000020.11:g.63813459del, NC_000020.11:g.63813459dup, NC_000020.11:g.63813458_63813459dup, NC_000020.11:g.63813457_63813459dup, NC_000020.11:g.63813456_63813459dup, NC_000020.10:g.62444807_62444812del, NC_000020.10:g.62444809_62444812del, NC_000020.10:g.62444810_62444812del, NC_000020.10:g.62444811_62444812del, NC_000020.10:g.62444812del, NC_000020.10:g.62444812dup, NC_000020.10:g.62444811_62444812dup, NC_000020.10:g.62444810_62444812dup, NC_000020.10:g.62444809_62444812dup

Select item 14909477208.

rs1490947720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:63809131 (GRCh38)
20:62440484 (GRCh37)
Canonical SPDI:: NC_000020.11:63809130:G:A,NC_000020.11:63809130:G:C
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.63809131G>A, NC_000020.11:g.63809131G>C, NC_000020.10:g.62440484G>A, NC_000020.10:g.62440484G>C

Select item 14909016099.

rs1490901609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63807786 (GRCh38)
20:62439139 (GRCh37)
Canonical SPDI:: NC_000020.11:63807785:T:C
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63807786T>C, NC_000020.10:g.62439139T>C

Select item 149087200010.

rs1490872000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:63821607 (GRCh38)
20:62452960 (GRCh37)
Canonical SPDI:: NC_000020.11:63821606:T:A
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63821607T>A, NC_000020.10:g.62452960T>A

Select item 149052841311.

rs1490528413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63815279 (GRCh38)
20:62446632 (GRCh37)
Canonical SPDI:: NC_000020.11:63815278:A:G
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/3 (GnomAD)
G=0.000849/24 (TOMMO)
G=0.00411/12 (KOREAN)
HGVS:: NC_000020.11:g.63815279A>G, NC_000020.10:g.62446632A>G

Select item 149047330612.

rs1490473306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63818442 (GRCh38)
20:62449795 (GRCh37)
Canonical SPDI:: NC_000020.11:63818441:G:A
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.63818442G>A, NC_000020.10:g.62449795G>A

Select item 149045506313.

rs1490455063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63808979 (GRCh38)
20:62440332 (GRCh37)
Canonical SPDI:: NC_000020.11:63808978:A:G
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.63808979A>G, NC_000020.10:g.62440332A>G

Select item 149019862914.

rs1490198629 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 20:63815764 (GRCh38)
20:62447117 (GRCh37)
Canonical SPDI:: NC_000020.11:63815763:A:C,NC_000020.11:63815763:A:T
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63815764A>C, NC_000020.11:g.63815764A>T, NC_000020.10:g.62447117A>C, NC_000020.10:g.62447117A>T, NM_017962.1:c.-42A>C, NM_017962.1:c.-42A>T

Select item 149017535915.

rs1490175359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63817061 (GRCh38)
20:62448414 (GRCh37)
Canonical SPDI:: NC_000020.11:63817060:C:T
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.63817061C>T, NC_000020.10:g.62448414C>T, NM_017962.1:c.*663C>T

Select item 149011474916.

rs1490114749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63810382 (GRCh38)
20:62441735 (GRCh37)
Canonical SPDI:: NC_000020.11:63810381:A:G
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.63810382A>G, NC_000020.10:g.62441735A>G

Select item 149003786517.

rs1490037865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:63815761 (GRCh38)
20:62447114 (GRCh37)
Canonical SPDI:: NC_000020.11:63815760:T:C
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00179/8 (ALFA)
C=0.00009/11 (GnomAD)
C=0.000602/17 (TOMMO)
C=0.000781/5 (1000Genomes)
C=0.004801/14 (KOREAN)
HGVS:: NC_000020.11:g.63815761T>C, NC_000020.10:g.62447114T>C, NM_017962.1:c.-45T>C

Select item 148971748118.

rs1489717481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63807012 (GRCh38)
20:62438365 (GRCh37)
Canonical SPDI:: NC_000020.11:63807011:G:A
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63807012G>A, NC_000020.10:g.62438365G>A

Select item 148962037219.

rs1489620372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:63815516 (GRCh38)
20:62446869 (GRCh37)
Canonical SPDI:: NC_000020.11:63815515:A:C
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.63815516A>C, NC_000020.10:g.62446869A>C

Select item 148952605820.

rs1489526058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:63813732 (GRCh38)
20:62445085 (GRCh37)
Canonical SPDI:: NC_000020.11:63813731:A:T
Gene:: ZBTB46 (Varview), ZBTB46-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63813732A>T, NC_000020.10:g.62445085A>T

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