SNP Links for Gene (Select 147807) - SNP

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Select item 14908431641.

rs1490843164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:55599235 (GRCh38)
19:56110601 (GRCh37)
Canonical SPDI:: NC_000019.10:55599234:A:T
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,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_000019.10:g.55599235A>T, NC_000019.9:g.56110601A>T, NG_052830.1:g.7736T>A, XM_005259352.5:c.-777T>A, XM_005259352.4:c.-777T>A, XM_005259352.3:c.-777T>A, XM_047439564.1:c.-1370T>A

Select item 14900537602.

rs1490053760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:55598976 (GRCh38)
19:56110342 (GRCh37)
Canonical SPDI:: NC_000019.10:55598975:T:A
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55598976T>A, NC_000019.9:g.56110342T>A, NG_052830.1:g.7995A>T, XM_005259352.5:c.-518A>T, XM_005259352.4:c.-518A>T, XM_005259352.3:c.-518A>T, XM_047439564.1:c.-1111A>T

Select item 14895429483.

rs1489542948 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:55603079 (GRCh38)
19:56114445 (GRCh37)
Canonical SPDI:: NC_000019.10:55603078:CCCCC:CCCC
Gene:: ZNF524 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55603083del, NC_000019.9:g.56114449del, NG_052830.1:g.3892del, NM_153219.4:c.*176del, NM_153219.3:c.*176del, NM_153219.2:c.*176del, XM_011526487.3:c.*176del, XM_011526487.2:c.*176del, XM_011526487.1:c.*176del

Select item 14894227954.

rs1489422795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55599833 (GRCh38)
19:56111199 (GRCh37)
Canonical SPDI:: NC_000019.10:55599832:C:T
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000283/5 (TOMMO)
HGVS:: NC_000019.10:g.55599833C>T, NC_000019.9:g.56111199C>T, NG_052830.1:g.7138G>A, XM_011526487.3:c.32C>T, XM_011526487.2:c.32C>T, XM_011526487.1:c.32C>T, XP_011524789.1:p.Pro11Leu

Select item 14892429965.

rs1489242996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55601394 (GRCh38)
19:56112760 (GRCh37)
Canonical SPDI:: NC_000019.10:55601393:G:A
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.55601394G>A, NC_000019.9:g.56112760G>A, NG_052830.1:g.5577C>T

Select item 14890083096.

rs1489008309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55603581 (GRCh38)
19:56114947 (GRCh37)
Canonical SPDI:: NC_000019.10:55603580:C:T
Gene:: ZNF524 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.55603581C>T, NC_000019.9:g.56114947C>T, NG_052830.1:g.3390G>A

Select item 14889591947.

rs1488959194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55600040 (GRCh38)
19:56111406 (GRCh37)
Canonical SPDI:: NC_000019.10:55600039:G:A
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55600040G>A, NC_000019.9:g.56111406G>A, NG_052830.1:g.6931C>T, XM_011526487.3:c.239G>A, XM_011526487.2:c.239G>A, XM_011526487.1:c.239G>A, XP_011524789.1:p.Gly80Asp

Select item 14886287988.

rs1488628798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55599760 (GRCh38)
19:56111126 (GRCh37)
Canonical SPDI:: NC_000019.10:55599759:G:A
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.002735/5 (Korea1K)
A=0.002796/47 (TOMMO)
A=0.00308/9 (KOREAN)
HGVS:: NC_000019.10:g.55599760G>A, NC_000019.9:g.56111126G>A, NG_052830.1:g.7211C>T, XM_011526487.3:c.-42G>A, XM_011526487.1:c.-42G>A

Select item 14876046579.

rs1487604657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:55600440 (GRCh38)
19:56111806 (GRCh37)
Canonical SPDI:: NC_000019.10:55600439:G:C,NC_000019.10:55600439:G:T
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000136/36 (TOPMED)
HGVS:: NC_000019.10:g.55600440G>C, NC_000019.10:g.55600440G>T, NC_000019.9:g.56111806G>C, NC_000019.9:g.56111806G>T, NG_052830.1:g.6531C>G, NG_052830.1:g.6531C>A

Select item 148747497110.

rs1487474971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:55603374 (GRCh38)
19:56114740 (GRCh37)
Canonical SPDI:: NC_000019.10:55603373:C:A
Gene:: ZNF524 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55603374C>A, NC_000019.9:g.56114740C>A, NG_052830.1:g.3597G>T

Select item 148737852611.

rs1487378526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55601075 (GRCh38)
19:56112441 (GRCh37)
Canonical SPDI:: NC_000019.10:55601074:C:G
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.55601075C>G, NC_000019.9:g.56112441C>G, NG_052830.1:g.5896G>C

Select item 148725266112.

rs1487252661 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:55600829 (GRCh38)
19:56112196 (GRCh37)
Canonical SPDI:: NC_000019.10:55600829::T
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000019.10:g.55600829_55600830insT, NC_000019.9:g.56112195_56112196insT, NG_052830.1:g.6141_6142insA

Select item 148720246313.

rs1487202463 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:55601787 (GRCh38)
19:56113153 (GRCh37)
Canonical SPDI:: NC_000019.10:55601786:G:T
Gene:: ZNF524 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55601787G>T, NC_000019.9:g.56113153G>T, NG_052830.1:g.5184C>A

Select item 148716577314.

rs1487165773 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 19:55600445 (GRCh38)
19:56111812 (GRCh37)
Canonical SPDI:: NC_000019.10:55600445::AT
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.55600445_55600446insAT, NC_000019.9:g.56111811_56111812insAT, NG_052830.1:g.6525_6526insAT

Select item 148714614715.

rs1487146147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55603474 (GRCh38)
19:56114840 (GRCh37)
Canonical SPDI:: NC_000019.10:55603473:C:T
Gene:: ZNF524 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000019.10:g.55603474C>T, NC_000019.9:g.56114840C>T, NG_052830.1:g.3497G>A

Select item 148709735016.

rs1487097350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55598854 (GRCh38)
19:56110220 (GRCh37)
Canonical SPDI:: NC_000019.10:55598853:C:T
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,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)
T=0.00463/1 (Vietnamese)
HGVS:: NC_000019.10:g.55598854C>T, NC_000019.9:g.56110220C>T, NG_052830.1:g.8117G>A, XM_005259352.5:c.-396G>A, XM_005259352.4:c.-396G>A, XM_005259352.3:c.-396G>A, XM_047439564.1:c.-989G>A

Select item 148698869617.

rs1486988696 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:55599505 (GRCh38)
19:56110872 (GRCh37)
Canonical SPDI:: NC_000019.10:55599505:GGGGG:GGGGGG
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.55599510dup, NC_000019.9:g.56110876dup, NG_052830.1:g.7465dup, NM_032836.3:c.-69dup, NM_032836.2:c.-69dup, XM_005259352.5:c.-1048dup, XM_005259352.4:c.-1048dup, XM_005259352.3:c.-1048dup, XM_047439564.1:c.-1641dup

Select item 148695838918.

rs1486958389 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55599158 (GRCh38)
19:56110524 (GRCh37)
Canonical SPDI:: NC_000019.10:55599157:C:T
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.55599158C>T, NC_000019.9:g.56110524C>T, NG_052830.1:g.7813G>A, XM_005259352.5:c.-700G>A, XM_005259352.4:c.-700G>A, XM_005259352.3:c.-700G>A, XM_047439564.1:c.-1293G>A

Select item 148694851219.

rs1486948512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55600986 (GRCh38)
19:56112352 (GRCh37)
Canonical SPDI:: NC_000019.10:55600985:C:G
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.55600986C>G, NC_000019.9:g.56112352C>G, NG_052830.1:g.5985G>C

Select item 148615460620.

rs1486154606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55600299 (GRCh38)
19:56111665 (GRCh37)
Canonical SPDI:: NC_000019.10:55600298:C:G
Gene:: FIZ1 (Varview), ZNF524 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,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_000019.10:g.55600299C>G, NC_000019.9:g.56111665C>G, NG_052830.1:g.6672G>C, NM_153219.4:c.-148C>G