SNP Links for Gene (Select 84622) - SNP

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Select item 14912656361.

rs1491265636 has merged into rs58396316 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:5187903 (GRCh38)
17:5091198 (GRCh37)
Canonical SPDI:: NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:5187887:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF594 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.25/2 (KOREAN)
T=0.371/1858 (1000Genomes)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000017.11:g.5187903_5187905del, NC_000017.11:g.5187904_5187905del, NC_000017.11:g.5187905del, NC_000017.11:g.5187905dup, NC_000017.11:g.5187904_5187905dup, NC_000017.11:g.5187903_5187905dup, NC_000017.11:g.5187902_5187905dup, NC_000017.11:g.5187899_5187905dup, NC_000017.11:g.5187891_5187905dup, NC_000017.11:g.5187890_5187905dup, NC_000017.10:g.5091198_5091200del, NC_000017.10:g.5091199_5091200del, NC_000017.10:g.5091200del, NC_000017.10:g.5091200dup, NC_000017.10:g.5091199_5091200dup, NC_000017.10:g.5091198_5091200dup, NC_000017.10:g.5091197_5091200dup, NC_000017.10:g.5091194_5091200dup, NC_000017.10:g.5091186_5091200dup, NC_000017.10:g.5091185_5091200dup

Select item 14910899392.

rs1491089939 has merged into rs34604391 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:5188762 (GRCh38)
17:5092057 (GRCh37)
Canonical SPDI:: NC_000017.11:5188750:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:5188750:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:5188750:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:5188750:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:5188750:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:5188750:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:5188750:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:5188750:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF594 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.4579/2293 (1000Genomes)
HGVS:: NC_000017.11:g.5188762_5188765del, NC_000017.11:g.5188763_5188765del, NC_000017.11:g.5188764_5188765del, NC_000017.11:g.5188765del, NC_000017.11:g.5188765dup, NC_000017.11:g.5188764_5188765dup, NC_000017.11:g.5188763_5188765dup, NC_000017.11:g.5188756_5188765dup, NC_000017.10:g.5092057_5092060del, NC_000017.10:g.5092058_5092060del, NC_000017.10:g.5092059_5092060del, NC_000017.10:g.5092060del, NC_000017.10:g.5092060dup, NC_000017.10:g.5092059_5092060dup, NC_000017.10:g.5092058_5092060dup, NC_000017.10:g.5092051_5092060dup

Select item 14908127543.

rs1490812754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:5184170 (GRCh38)
17:5087465 (GRCh37)
Canonical SPDI:: NC_000017.11:5184169:G:A
Gene:: ZNF594 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_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_000017.11:g.5184170G>A, NC_000017.10:g.5087465G>A, XM_005256827.4:c.87C>T, XM_005256827.3:c.87C>T, XM_005256827.2:c.87C>T, XM_005256827.1:c.87C>T, XR_001752666.3:n.228C>T, XR_001752666.2:n.243C>T, XR_001752666.1:n.254C>T, XR_001752667.3:n.228C>T, XR_001752667.2:n.243C>T, XR_001752667.1:n.254C>T, NM_032530.2:c.87C>T, NM_032530.1:c.87C>T, XR_007065504.1:n.544C>T, XR_007065505.1:n.544C>T

Select item 14906091714.

rs1490609171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5177447 (GRCh38)
17:5080742 (GRCh37)
Canonical SPDI:: NC_000017.11:5177446:C:T
Gene:: ZNF594 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000049/13 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000017.11:g.5177447C>T, NC_000017.10:g.5080742C>T

Select item 14906034145.

rs1490603414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5178981 (GRCh38)
17:5082276 (GRCh37)
Canonical SPDI:: NC_000017.11:5178980:C:T
Gene:: ZNF594 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.5178981C>T, NC_000017.10:g.5082276C>T

Select item 14904305316.

rs1490430531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5180829 (GRCh38)
17:5084124 (GRCh37)
Canonical SPDI:: NC_000017.11:5180828:C:T
Gene:: ZNF594 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.5180829C>T, NC_000017.10:g.5084124C>T, XM_005256827.4:c.*1004G>A, XM_005256827.3:c.*1004G>A, XM_005256827.2:c.*1004G>A, XM_005256827.1:c.*1004G>A, XR_001752666.3:n.3569G>A, XR_001752666.2:n.3584G>A, XR_001752666.1:n.3595G>A, XR_001752667.3:n.3569G>A, XR_001752667.2:n.3584G>A, XR_001752667.1:n.3595G>A, NM_032530.2:c.*1004G>A, NM_032530.1:c.*1004G>A, XR_007065504.1:n.3885G>A, XR_007065505.1:n.3885G>A

Select item 14903942037.

rs1490394203 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:5178335 (GRCh38)
17:5081630 (GRCh37)
Canonical SPDI:: NC_000017.11:5178334:T:C
Gene:: ZNF594 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.5178335T>C, NC_000017.10:g.5081630T>C

Select item 14903785508.

rs1490378550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:5179292 (GRCh38)
17:5082587 (GRCh37)
Canonical SPDI:: NC_000017.11:5179291:G:C
Gene:: ZNF594 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.5179292G>C, NC_000017.10:g.5082587G>C, XR_001752666.3:n.3762C>G, XR_001752666.2:n.3777C>G, XR_001752666.1:n.3788C>G, XR_007065504.1:n.4078C>G

Select item 14902838049.

rs1490283804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:5176556 (GRCh38)
17:5079851 (GRCh37)
Canonical SPDI:: NC_000017.11:5176555:T:A
Gene:: ZNF594 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.5176556T>A, NC_000017.10:g.5079851T>A

Select item 149008509110.

rs1490085091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5177541 (GRCh38)
17:5080836 (GRCh37)
Canonical SPDI:: NC_000017.11:5177540:C:T
Gene:: ZNF594 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.5177541C>T, NC_000017.10:g.5080836C>T

Select item 148979463911.

rs1489794639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:5177075 (GRCh38)
17:5080370 (GRCh37)
Canonical SPDI:: NC_000017.11:5177074:A:T
Gene:: ZNF594 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.5177075A>T, NC_000017.10:g.5080370A>T

Select item 148930466112.

rs1489304661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:5185363 (GRCh38)
17:5088658 (GRCh37)
Canonical SPDI:: NC_000017.11:5185362:C:G
Gene:: ZNF594 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.5185363C>G, NC_000017.10:g.5088658C>G

Select item 148926419813.

rs1489264198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5193555 (GRCh38)
17:5096850 (GRCh37)
Canonical SPDI:: NC_000017.11:5193554:C:T
Gene:: ZNF594 (Varview), ZNF594-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.5193555C>T, NC_000017.10:g.5096850C>T

Select item 148906938914.

rs1489069389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:5176491 (GRCh38)
17:5079786 (GRCh37)
Canonical SPDI:: NC_000017.11:5176490:G:A
Gene:: ZNF594 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.5176491G>A, NC_000017.10:g.5079786G>A

Select item 148903449315.

rs1489034493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:5179185 (GRCh38)
17:5082480 (GRCh37)
Canonical SPDI:: NC_000017.11:5179184:T:G
Gene:: ZNF594 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.5179185T>G, NC_000017.10:g.5082480T>G

Select item 148896741916.

rs1488967419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5181489 (GRCh38)
17:5084784 (GRCh37)
Canonical SPDI:: NC_000017.11:5181488:C:T
Gene:: ZNF594 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.5181489C>T, NC_000017.10:g.5084784C>T, XM_005256827.4:c.*344G>A, XM_005256827.3:c.*344G>A, XM_005256827.2:c.*344G>A, XM_005256827.1:c.*344G>A, XR_001752666.3:n.2909G>A, XR_001752666.2:n.2924G>A, XR_001752666.1:n.2935G>A, XR_001752667.3:n.2909G>A, XR_001752667.2:n.2924G>A, XR_001752667.1:n.2935G>A, NM_032530.2:c.*344G>A, NM_032530.1:c.*344G>A, XR_007065504.1:n.3225G>A, XR_007065505.1:n.3225G>A

Select item 148894678517.

rs1488946785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:5186100 (GRCh38)
17:5089395 (GRCh37)
Canonical SPDI:: NC_000017.11:5186099:G:A
Gene:: ZNF594 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.5186100G>A, NC_000017.10:g.5089395G>A

Select item 148880258318.

rs1488802583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:5180306 (GRCh38)
17:5083601 (GRCh37)
Canonical SPDI:: NC_000017.11:5180305:C:T
Gene:: ZNF594 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000177/3 (TOMMO)
HGVS:: NC_000017.11:g.5180306C>T, NC_000017.10:g.5083601C>T, XM_005256827.4:c.*1527G>A, XM_005256827.3:c.*1527G>A, XM_005256827.2:c.*1527G>A, XM_005256827.1:c.*1527G>A, NM_032530.2:c.*1527G>A, NM_032530.1:c.*1527G>A

Select item 148862665919.

rs1488626659 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:5190880 (GRCh38)
17:5094176 (GRCh37)
Canonical SPDI:: NC_000017.11:5190880:A:AA
Gene:: ZNF594 (Varview), ZNF594-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.5190881dup, NC_000017.10:g.5094176dup

Select item 148820699720.

rs1488206997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:5185593 (GRCh38)
17:5088888 (GRCh37)
Canonical SPDI:: NC_000017.11:5185592:C:G,NC_000017.11:5185592:C:T
Gene:: ZNF594 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.5185593C>G, NC_000017.11:g.5185593C>T, NC_000017.10:g.5088888C>G, NC_000017.10:g.5088888C>T

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