SNP Links for Gene (Select 406973) - SNP

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Select item 14903994861.

rs1490399486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:53990676 (GRCh38)
12:54384460 (GRCh37)
Canonical SPDI:: NC_000012.12:53990675:G:A,NC_000012.12:53990675:G:T
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53990676G>A, NC_000012.12:g.53990676G>T, NC_000012.11:g.54384460G>A, NC_000012.11:g.54384460G>T

Select item 14892591162.

rs1489259116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53992070 (GRCh38)
12:54385854 (GRCh37)
Canonical SPDI:: NC_000012.12:53992069:T:C
Gene:: MIR196A2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000012.12:g.53992070T>C, NC_000012.11:g.54385854T>C

Select item 14878188573.

rs1487818857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53991638 (GRCh38)
12:54385422 (GRCh37)
Canonical SPDI:: NC_000012.12:53991637:G:A
Gene:: MIR196A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.53991638G>A, NC_000012.11:g.54385422G>A

Select item 14877710394.

rs1487771039 has merged into rs1214065333 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCG>-,CG,CGCGCG [Show Flanks]
Chromosome:: 12:53990506 (GRCh38)
12:54384290 (GRCh37)
Canonical SPDI:: NC_000012.12:53990502:GCGCGCG:GCG,NC_000012.12:53990502:GCGCGCG:GCGCG,NC_000012.12:53990502:GCGCGCG:GCGCGCGCG
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000212/4 (TOMMO)
HGVS:: NC_000012.12:g.53990504CG[1], NC_000012.12:g.53990504CG[2], NC_000012.12:g.53990504CG[4], NC_000012.11:g.54384288CG[1], NC_000012.11:g.54384288CG[2], NC_000012.11:g.54384288CG[4]

Select item 14867868675.

rs1486786867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:53990151 (GRCh38)
12:54383935 (GRCh37)
Canonical SPDI:: NC_000012.12:53990150:C:A,NC_000012.12:53990150:C:G
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53990151C>A, NC_000012.12:g.53990151C>G, NC_000012.11:g.54383935C>A, NC_000012.11:g.54383935C>G, NM_017409.4:c.*705C>A, NM_017409.4:c.*705C>G, NM_017409.3:c.*705C>A, NM_017409.3:c.*705C>G

Select item 14859559646.

rs1485955964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53990429 (GRCh38)
12:54384213 (GRCh37)
Canonical SPDI:: NC_000012.12:53990428:C:T
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000342/1 (KOREAN)
T=0.003333/2 (NorthernSweden)
HGVS:: NC_000012.12:g.53990429C>T, NC_000012.11:g.54384213C>T

Select item 14828555067.

rs1482855506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:53991001 (GRCh38)
12:54384785 (GRCh37)
Canonical SPDI:: NC_000012.12:53991000:C:G,NC_000012.12:53991000:C:T
Gene:: MIR196A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000012.12:g.53991001C>G, NC_000012.12:g.53991001C>T, NC_000012.11:g.54384785C>G, NC_000012.11:g.54384785C>T

Select item 14800453608.

rs1480045360 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53991720 (GRCh38)
12:54385504 (GRCh37)
Canonical SPDI:: NC_000012.12:53991719:A:G
Gene:: MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000012.12:g.53991720A>G, NC_000012.11:g.54385504A>G

Select item 14779116879.

rs1477911687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53991226 (GRCh38)
12:54385010 (GRCh37)
Canonical SPDI:: NC_000012.12:53991225:G:A
Gene:: MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.53991226G>A, NC_000012.11:g.54385010G>A

Select item 147724816210.

rs1477248162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:53990700 (GRCh38)
12:54384484 (GRCh37)
Canonical SPDI:: NC_000012.12:53990699:T:G
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53990700T>G, NC_000012.11:g.54384484T>G

Select item 147719217411.

rs1477192174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53989914 (GRCh38)
12:54383698 (GRCh37)
Canonical SPDI:: NC_000012.12:53989913:G:A
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53989914G>A, NC_000012.11:g.54383698G>A, NM_017409.4:c.*468G>A, NM_017409.3:c.*468G>A

Select item 147693124312.

rs1476931243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53990926 (GRCh38)
12:54384710 (GRCh37)
Canonical SPDI:: NC_000012.12:53990925:C:T
Gene:: MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.53990926C>T, NC_000012.11:g.54384710C>T

Select item 147664833613.

rs1476648336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53990866 (GRCh38)
12:54384650 (GRCh37)
Canonical SPDI:: NC_000012.12:53990865:G:A
Gene:: MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000012.12:g.53990866G>A, NC_000012.11:g.54384650G>A

Select item 147567972214.

rs1475679722 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 12:53989805 (GRCh38)
12:54383589 (GRCh37)
Canonical SPDI:: NC_000012.12:53989804:AAAAAAA:AAAAAA,NC_000012.12:53989804:AAAAAAA:AAAAAAAA
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000043/6 (GnomAD)
-=0.000068/18 (TOPMED)
HGVS:: NC_000012.12:g.53989811del, NC_000012.12:g.53989811dup, NC_000012.11:g.54383595del, NC_000012.11:g.54383595dup, NM_017409.4:c.*365del, NM_017409.4:c.*365dup, NM_017409.3:c.*365del, NM_017409.3:c.*365dup

Select item 147134646215.

rs1471346462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:53990038 (GRCh38)
12:54383822 (GRCh37)
Canonical SPDI:: NC_000012.12:53990037:C:A
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53990038C>A, NC_000012.11:g.54383822C>A, NM_017409.4:c.*592C>A, NM_017409.3:c.*592C>A

Select item 147090507616.

rs1470905076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53991346 (GRCh38)
12:54385130 (GRCh37)
Canonical SPDI:: NC_000012.12:53991345:G:A
Gene:: MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000012.12:g.53991346G>A, NC_000012.11:g.54385130G>A

Select item 146932539517.

rs1469325395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53990757 (GRCh38)
12:54384541 (GRCh37)
Canonical SPDI:: NC_000012.12:53990756:A:G
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000045/12 (TOPMED)
G=0.000071/1 (TOMMO)
G=0.000156/1 (1000Genomes)
G=0.001092/2 (Korea1K)
G=0.002396/7 (KOREAN)
HGVS:: NC_000012.12:g.53990757A>G, NC_000012.11:g.54384541A>G

Select item 146925234318.

rs1469252343 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:53990054 (GRCh38)
12:54383838 (GRCh37)
Canonical SPDI:: NC_000012.12:53990053:A:C
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.01787/212 (ALFA)
C=0.01232/36 (KOREAN)
HGVS:: NC_000012.12:g.53990054A>C, NC_000012.11:g.54383838A>C, NM_017409.4:c.*608A>C, NM_017409.3:c.*608A>C

Select item 146575120719.

rs1465751207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:53991309 (GRCh38)
12:54385093 (GRCh37)
Canonical SPDI:: NC_000012.12:53991308:T:G
Gene:: MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000012.12:g.53991309T>G, NC_000012.11:g.54385093T>G

Select item 146500123720.

rs1465001237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:53989997 (GRCh38)
12:54383781 (GRCh37)
Canonical SPDI:: NC_000012.12:53989996:T:G
Gene:: HOXC10 (Varview), MIR196A2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53989997T>G, NC_000012.11:g.54383781T>G, NM_017409.4:c.*551T>G, NM_017409.3:c.*551T>G

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