SNP Links for Gene (Select 162699) - SNP

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Select item 14900366511.

rs1490036651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:47031412 (GRCh38)
18:44557783 (GRCh37)
Canonical SPDI:: NC_000018.10:47031411:T:C
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.47031412T>C, NC_000018.9:g.44557783T>C, NG_050760.1:g.9206A>G, NG_016749.1:g.3667A>G

Select item 14899252922.

rs1489925292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:47032030 (GRCh38)
18:44558401 (GRCh37)
Canonical SPDI:: NC_000018.10:47032029:G:A,NC_000018.10:47032029:G:T
Gene:: ELOA2 (Varview), KATNAL2 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.47032030G>A, NC_000018.10:g.47032030G>T, NC_000018.9:g.44558401G>A, NC_000018.9:g.44558401G>T, NG_050760.1:g.8588C>T, NG_050760.1:g.8588C>A, NG_016749.1:g.3049C>T, NG_016749.1:g.3049C>A

Select item 14870094163.

rs1487009416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 18:47031537 (GRCh38)
18:44557908 (GRCh37)
Canonical SPDI:: NC_000018.10:47031536:C:A,NC_000018.10:47031536:C:G,NC_000018.10:47031536:C:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.47031537C>A, NC_000018.10:g.47031537C>G, NC_000018.10:g.47031537C>T, NC_000018.9:g.44557908C>A, NC_000018.9:g.44557908C>G, NC_000018.9:g.44557908C>T, NG_050760.1:g.9081G>T, NG_050760.1:g.9081G>C, NG_050760.1:g.9081G>A, NG_016749.1:g.3542G>T, NG_016749.1:g.3542G>C, NG_016749.1:g.3542G>A

Select item 14868765804.

rs1486876580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 18:47031311 (GRCh38)
18:44557682 (GRCh37)
Canonical SPDI:: NC_000018.10:47031310:A:C,NC_000018.10:47031310:A:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000018.10:g.47031311A>C, NC_000018.10:g.47031311A>T, NC_000018.9:g.44557682A>C, NC_000018.9:g.44557682A>T, NG_050760.1:g.9307T>G, NG_050760.1:g.9307T>A, NG_016749.1:g.3768T>G, NG_016749.1:g.3768T>A

Select item 14865233585.

rs1486523358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:47029005 (GRCh38)
18:44555376 (GRCh37)
Canonical SPDI:: NC_000018.10:47029004:C:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00002/2 (GnomAD)
HGVS:: NC_000018.10:g.47029005C>T, NC_000018.9:g.44555376C>T, NG_016749.1:g.6074G>A, NM_145653.3:c.838G>A

Select item 14854749966.

rs1485474996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:47030926 (GRCh38)
18:44557297 (GRCh37)
Canonical SPDI:: NC_000018.10:47030925:A:G
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.47030926A>G, NC_000018.9:g.44557297A>G, NG_050760.1:g.9692T>C, NG_016749.1:g.4153T>C

Select item 14854238137.

rs1485423813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 18:47031499 (GRCh38)
18:44557870 (GRCh37)
Canonical SPDI:: NC_000018.10:47031498:G:A,NC_000018.10:47031498:G:C,NC_000018.10:47031498:G:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000177/3 (TOMMO)
HGVS:: NC_000018.10:g.47031499G>A, NC_000018.10:g.47031499G>C, NC_000018.10:g.47031499G>T, NC_000018.9:g.44557870G>A, NC_000018.9:g.44557870G>C, NC_000018.9:g.44557870G>T, NG_050760.1:g.9119C>T, NG_050760.1:g.9119C>G, NG_050760.1:g.9119C>A, NG_016749.1:g.3580C>T, NG_016749.1:g.3580C>G, NG_016749.1:g.3580C>A

Select item 14843109018.

rs1484310901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:47028486 (GRCh38)
18:44554857 (GRCh37)
Canonical SPDI:: NC_000018.10:47028485:T:C
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000018.10:g.47028486T>C, NC_000018.9:g.44554857T>C, NG_016749.1:g.6593A>G, NM_145653.3:c.1357A>G

Select item 14838807479.

rs1483880747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:47028597 (GRCh38)
18:44554968 (GRCh37)
Canonical SPDI:: NC_000018.10:47028596:A:G
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.47028597A>G, NC_000018.9:g.44554968A>G, NG_016749.1:g.6482T>C, NM_145653.3:c.1246T>C

Select item 148374384010.

rs1483743840 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148371758111.

rs1483717581 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:47029515 (GRCh38)
18:44555886 (GRCh37)
Canonical SPDI:: NC_000018.10:47029514:A:G
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000018.10:g.47029515A>G, NC_000018.9:g.44555886A>G, NG_016749.1:g.5564T>C, NM_145653.3:c.328T>C

Select item 148327834012.

rs1483278340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 18:47031044 (GRCh38)
18:44557415 (GRCh37)
Canonical SPDI:: NC_000018.10:47031043:A:C,NC_000018.10:47031043:A:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.47031044A>C, NC_000018.10:g.47031044A>T, NC_000018.9:g.44557415A>C, NC_000018.9:g.44557415A>T, NG_050760.1:g.9574T>G, NG_050760.1:g.9574T>A, NG_016749.1:g.4035T>G, NG_016749.1:g.4035T>A

Select item 148234240313.

rs1482342403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:47029362 (GRCh38)
18:44555733 (GRCh37)
Canonical SPDI:: NC_000018.10:47029361:C:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00219/26 (ALFA)
T=0.00565/160 (GnomAD)
T=0.00687/56 (TOMMO)
T=0.02036/25 (KOREAN)
HGVS:: NC_000018.10:g.47029362C>T, NC_000018.9:g.44555733C>T, NG_016749.1:g.5717G>A, NM_145653.3:c.481G>A

Select item 148213852114.

rs1482138521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 18:47031482 (GRCh38)
18:44557853 (GRCh37)
Canonical SPDI:: NC_000018.10:47031481:A:G,NC_000018.10:47031481:A:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.47031482A>G, NC_000018.10:g.47031482A>T, NC_000018.9:g.44557853A>G, NC_000018.9:g.44557853A>T, NG_050760.1:g.9136T>C, NG_050760.1:g.9136T>A, NG_016749.1:g.3597T>C, NG_016749.1:g.3597T>A

Select item 148121853315.

rs1481218533 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 18:47031605 (GRCh38)
18:44557976 (GRCh37)
Canonical SPDI:: NC_000018.10:47031604:A:
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000087/23 (TOPMED)
-=0.000143/20 (GnomAD)
HGVS:: NC_000018.10:g.47031605del, NC_000018.9:g.44557976del, NG_050760.1:g.9013del, NG_016749.1:g.3474del

Select item 148105447716.

rs1481054477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 18:47031580 (GRCh38)
18:44557951 (GRCh37)
Canonical SPDI:: NC_000018.10:47031579:C:A,NC_000018.10:47031579:C:G
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.47031580C>A, NC_000018.10:g.47031580C>G, NC_000018.9:g.44557951C>A, NC_000018.9:g.44557951C>G, NG_050760.1:g.9038G>T, NG_050760.1:g.9038G>C, NG_016749.1:g.3499G>T, NG_016749.1:g.3499G>C

Select item 148070026117.

rs1480700261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:47031529 (GRCh38)
18:44557900 (GRCh37)
Canonical SPDI:: NC_000018.10:47031528:T:G
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.47031529T>G, NC_000018.9:g.44557900T>G, NG_050760.1:g.9089A>C, NG_016749.1:g.3550A>C

Select item 148063887118.

rs1480638871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 18:47031326 (GRCh38)
18:44557697 (GRCh37)
Canonical SPDI:: NC_000018.10:47031325:G:C,NC_000018.10:47031325:G:T
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.47031326G>C, NC_000018.10:g.47031326G>T, NC_000018.9:g.44557697G>C, NC_000018.9:g.44557697G>T, NG_050760.1:g.9292C>G, NG_050760.1:g.9292C>A, NG_016749.1:g.3753C>G, NG_016749.1:g.3753C>A

Select item 147966087619.

rs1479660876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:47031174 (GRCh38)
18:44557545 (GRCh37)
Canonical SPDI:: NC_000018.10:47031173:T:C
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000018.10:g.47031174T>C, NC_000018.9:g.44557545T>C, NG_050760.1:g.9444A>G, NG_016749.1:g.3905A>G

Select item 147867944820.

rs1478679448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 18:47030608 (GRCh38)
18:44556979 (GRCh37)
Canonical SPDI:: NC_000018.10:47030607:C:A,NC_000018.10:47030607:C:G
Gene:: KATNAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000018.10:g.47030608C>A, NC_000018.10:g.47030608C>G, NC_000018.9:g.44556979C>A, NC_000018.9:g.44556979C>G, NG_050760.1:g.10010G>T, NG_050760.1:g.10010G>C, NG_016749.1:g.4471G>T, NG_016749.1:g.4471G>C

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