SNP Links for Gene (Select 100302229) - SNP

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Links from Gene

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Select item 14905100081.

rs1490510008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81132892 (GRCh38)
17:79106692 (GRCh37)
Canonical SPDI:: NC_000017.11:81132891:G:A
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_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.81132892G>A, NC_000017.10:g.79106692G>A, NG_029981.1:g.38181C>T

Select item 14900680862.

rs1490068086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81134457 (GRCh38)
17:79108257 (GRCh37)
Canonical SPDI:: NC_000017.11:81134456:C:T
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81134457C>T, NC_000017.10:g.79108257C>T, NG_029981.1:g.36616G>A, NM_001080395.3:c.100G>A, NM_001080395.2:c.100G>A, XR_007065937.1:n.526C>T, XR_007065938.1:n.312C>T, NP_001073864.2:p.Val34Met

Select item 14893330993.

rs1489333099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81133245 (GRCh38)
17:79107045 (GRCh37)
Canonical SPDI:: NC_000017.11:81133244:G:A
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00009/1 (ALFA)
HGVS:: NC_000017.11:g.81133245G>A, NC_000017.10:g.79107045G>A, NG_029981.1:g.37828C>T, NR_031652.1:n.64C>T

Select item 14890010444.

rs1489001044 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 17:81132895 (GRCh38)
17:79106695 (GRCh37)
Canonical SPDI:: NC_000017.11:81132886:AGGAGGAGGAG:AGGAGGAG
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGAGGAG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.81132889GAG[2], NC_000017.10:g.79106689GAG[2], NG_029981.1:g.38178CCT[2]

Select item 14877176755.

rs1487717675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81134139 (GRCh38)
17:79107939 (GRCh37)
Canonical SPDI:: NC_000017.11:81134138:G:A
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.81134139G>A, NC_000017.10:g.79107939G>A, NG_029981.1:g.36934C>T

Select item 14875428646.

rs1487542864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81133333 (GRCh38)
17:79107133 (GRCh37)
Canonical SPDI:: NC_000017.11:81133332:C:T
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81133333C>T, NC_000017.10:g.79107133C>T, NG_029981.1:g.37740G>A

Select item 14872915557.

rs1487291555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81134395 (GRCh38)
17:79108195 (GRCh37)
Canonical SPDI:: NC_000017.11:81134394:G:A
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: coding_sequence_variant,splice_acceptor_variant,2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_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.81134395G>A, NC_000017.10:g.79108195G>A, NG_029981.1:g.36678C>T, NM_001080395.3:c.162C>T, NM_001080395.2:c.162C>T

Select item 14848250528.

rs1484825052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81133572 (GRCh38)
17:79107372 (GRCh37)
Canonical SPDI:: NC_000017.11:81133571:A:G
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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)
HGVS:: NC_000017.11:g.81133572A>G, NC_000017.10:g.79107372A>G, NG_029981.1:g.37501T>C

Select item 14827923859.

rs1482792385 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:81133343 (GRCh38)
17:79107143 (GRCh37)
Canonical SPDI:: NC_000017.11:81133342:C:
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.81133343del, NC_000017.10:g.79107143del, NG_029981.1:g.37730del

Select item 148193994710.

rs1481939947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81133989 (GRCh38)
17:79107789 (GRCh37)
Canonical SPDI:: NC_000017.11:81133988:A:G
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.81133989A>G, NC_000017.10:g.79107789A>G, NG_029981.1:g.37084T>C

Select item 147883415511.

rs1478834155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81133174 (GRCh38)
17:79106974 (GRCh37)
Canonical SPDI:: NC_000017.11:81133173:C:T
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000017.11:g.81133174C>T, NC_000017.10:g.79106974C>T, NG_029981.1:g.37899G>A

Select item 147874736912.

rs1478747369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:81133729 (GRCh38)
17:79107529 (GRCh37)
Canonical SPDI:: NC_000017.11:81133728:C:G
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81133729C>G, NC_000017.10:g.79107529C>G, NG_029981.1:g.37344G>C

Select item 147829703513.

rs1478297035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81132977 (GRCh38)
17:79106777 (GRCh37)
Canonical SPDI:: NC_000017.11:81132976:C:T
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.81132977C>T, NC_000017.10:g.79106777C>T, NG_029981.1:g.38096G>A

Select item 147654616214.

rs1476546162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81134396 (GRCh38)
17:79108196 (GRCh37)
Canonical SPDI:: NC_000017.11:81134395:C:T
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81134396C>T, NC_000017.10:g.79108196C>T, NG_029981.1:g.36677G>A, NM_001080395.3:c.161G>A, NM_001080395.2:c.161G>A, XR_007065937.1:n.465C>T, XR_007065938.1:n.251C>T, NP_001073864.2:p.Cys54Tyr

Select item 147369942815.

rs1473699428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81134027 (GRCh38)
17:79107827 (GRCh37)
Canonical SPDI:: NC_000017.11:81134026:C:T
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,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_000017.11:g.81134027C>T, NC_000017.10:g.79107827C>T, NG_029981.1:g.37046G>A

Select item 147120615316.

rs1471206153 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:81134788 (GRCh38)
17:79108588 (GRCh37)
Canonical SPDI:: NC_000017.11:81134787:CT:
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81134788_81134789del, NC_000017.10:g.79108588_79108589del, NG_029981.1:g.36284_36285del, XR_007065937.1:n.857_858del, XR_007065938.1:n.643_644del

Select item 146961755517.

rs1469617555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81133048 (GRCh38)
17:79106848 (GRCh37)
Canonical SPDI:: NC_000017.11:81133047:C:T
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.81133048C>T, NC_000017.10:g.79106848C>T, NG_029981.1:g.38025G>A

Select item 146940584318.

rs1469405843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:81135024 (GRCh38)
17:79108824 (GRCh37)
Canonical SPDI:: NC_000017.11:81135023:C:G
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81135024C>G, NC_000017.10:g.79108824C>G, NG_029981.1:g.36049G>C, XR_007065937.1:n.1093C>G, XR_007065938.1:n.879C>G, XR_007065936.1:n.22C>G

Select item 146852103719.

rs1468521037 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:81133845 (GRCh38)
17:79107645 (GRCh37)
Canonical SPDI:: NC_000017.11:81133844:A:T
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.81133845A>T, NC_000017.10:g.79107645A>T, NG_029981.1:g.37228T>A

Select item 146833137020.

rs1468331370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81133433 (GRCh38)
17:79107233 (GRCh37)
Canonical SPDI:: NC_000017.11:81133432:C:T
Gene:: AATK (Varview), MIR1250 (Varview), LOC124904079 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000017.11:g.81133433C>T, NC_000017.10:g.79107233C>T, NG_029981.1:g.37640G>A