SNP Links for Gene (Select 3859) - SNP

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Select item 14907943131.

rs1490794313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40866492 (GRCh38)
17:39022744 (GRCh37)
Canonical SPDI:: NC_000017.11:40866491:A:G
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40866492A>G, NC_000017.10:g.39022744A>G, NG_008077.1:g.5719T>C, NW_003871091.1:g.15760A>G

Select item 14906003662.

rs1490600366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40865711 (GRCh38)
17:39021963 (GRCh37)
Canonical SPDI:: NC_000017.11:40865710:C:T
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: 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.40865711C>T, NC_000017.10:g.39021963C>T, NG_008077.1:g.6500G>A, NW_003871091.1:g.14979C>T

Select item 14892575883.

rs1489257588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40867603 (GRCh38)
17:39023855 (GRCh37)
Canonical SPDI:: NC_000017.11:40867602:C:T
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_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_000017.11:g.40867603C>T, NC_000017.10:g.39023855C>T, NG_008077.1:g.4608G>A, NW_003871091.1:g.16871C>T

Select item 14884233474.

rs1488423347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:40863845 (GRCh38)
17:39020097 (GRCh37)
Canonical SPDI:: NC_000017.11:40863844:A:C
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40863845A>C, NC_000017.10:g.39020097A>C, NG_008077.1:g.8366T>G, NM_000223.4:c.827T>G, NM_000223.3:c.827T>G, NW_003871091.1:g.13113A>C, NP_000214.1:p.Val276Gly

Select item 14882313515.

rs1488231351 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:40865108 (GRCh38)
17:39021361 (GRCh37)
Canonical SPDI:: NC_000017.11:40865108:TTTTT:TTTTTT
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40865113dup, NC_000017.10:g.39021365dup, NG_008077.1:g.7102dup, NW_003871091.1:g.14381dup

Select item 14881814586.

rs1488181458 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:40864067 (GRCh38)
17:39020319 (GRCh37)
Canonical SPDI:: NC_000017.11:40864066:A:C
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000017.11:g.40864067A>C, NC_000017.10:g.39020319A>C, NG_008077.1:g.8144T>G, NW_003871091.1:g.13335A>C

Select item 14872982837.

rs1487298283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40868736 (GRCh38)
17:39024988 (GRCh37)
Canonical SPDI:: NC_000017.11:40868735:T:C
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40868736T>C, NC_000017.10:g.39024988T>C, NG_008077.1:g.3475A>G, NW_003871091.1:g.18004T>C

Select item 14871337898.

rs1487133789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:40865630 (GRCh38)
17:39021882 (GRCh37)
Canonical SPDI:: NC_000017.11:40865629:C:G
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_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.40865630C>G, NC_000017.10:g.39021882C>G, NG_008077.1:g.6581G>C, NW_003871091.1:g.14898C>G

Select item 14868371759.

rs1486837175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:40863225 (GRCh38)
17:39019477 (GRCh37)
Canonical SPDI:: NC_000017.11:40863224:G:C
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40863225G>C, NC_000017.10:g.39019477G>C, NG_008077.1:g.8986C>G, NM_000223.4:c.1214C>G, NM_000223.3:c.1214C>G, NW_003871091.1:g.12493G>C, NP_000214.1:p.Ala405Gly

Select item 148603241610.

rs1486032416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:40860883 (GRCh38)
17:39017135 (GRCh37)
Canonical SPDI:: NC_000017.11:40860882:C:G
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_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.40860883C>G, NC_000017.10:g.39017135C>G, NG_008077.1:g.11328G>C, NW_003871091.1:g.10151C>G

Select item 148576375111.

rs1485763751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:40861834 (GRCh38)
17:39018086 (GRCh37)
Canonical SPDI:: NC_000017.11:40861833:G:C,NC_000017.11:40861833:G:T
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40861834G>C, NC_000017.11:g.40861834G>T, NC_000017.10:g.39018086G>C, NC_000017.10:g.39018086G>T, NG_008077.1:g.10377C>G, NG_008077.1:g.10377C>A, NW_003871091.1:g.11102G>C, NW_003871091.1:g.11102G>T

Select item 148556109512.

rs1485561095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40863307 (GRCh38)
17:39019559 (GRCh37)
Canonical SPDI:: NC_000017.11:40863306:C:T
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_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.40863307C>T, NC_000017.10:g.39019559C>T, NG_008077.1:g.8904G>A, NM_000223.4:c.1132G>A, NM_000223.3:c.1132G>A, NW_003871091.1:g.12575C>T, NP_000214.1:p.Gly378Ser

Select item 148535933313.

rs1485359333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40866578 (GRCh38)
17:39022830 (GRCh37)
Canonical SPDI:: NC_000017.11:40866577:G:A
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000017.11:g.40866578G>A, NC_000017.10:g.39022830G>A, NG_008077.1:g.5633C>T, NW_003871091.1:g.15846G>A

Select item 148517850314.

rs1485178503 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40866717 (GRCh38)
17:39022969 (GRCh37)
Canonical SPDI:: NC_000017.11:40866716:A:G
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40866717A>G, NC_000017.10:g.39022969A>G, NG_008077.1:g.5494T>C, NM_000223.4:c.470T>C, NM_000223.3:c.470T>C, NW_003871091.1:g.15985A>G, NP_000214.1:p.Ile157Thr

Select item 148506492015.

rs1485064920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40867920 (GRCh38)
17:39024172 (GRCh37)
Canonical SPDI:: NC_000017.11:40867919:T:C
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40867920T>C, NC_000017.10:g.39024172T>C, NG_008077.1:g.4291A>G, NW_003871091.1:g.17188T>C

Select item 148498505716.

rs1484985057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:40863946 (GRCh38)
17:39020198 (GRCh37)
Canonical SPDI:: NC_000017.11:40863945:C:G,NC_000017.11:40863945:C:T
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00002/1 (GnomAD)
HGVS:: NC_000017.11:g.40863946C>G, NC_000017.11:g.40863946C>T, NC_000017.10:g.39020198C>G, NC_000017.10:g.39020198C>T, NG_008077.1:g.8265G>C, NG_008077.1:g.8265G>A, NW_003871091.1:g.13214C>G, NW_003871091.1:g.13214C>T

Select item 148487723317.

rs1484877233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:40863891 (GRCh38)
17:39020143 (GRCh37)
Canonical SPDI:: NC_000017.11:40863890:G:T
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: 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.40863891G>T, NC_000017.10:g.39020143G>T, NG_008077.1:g.8320C>A, NW_003871091.1:g.13159G>T

Select item 148480806718.

rs1484808067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40863531 (GRCh38)
17:39019783 (GRCh37)
Canonical SPDI:: NC_000017.11:40863530:C:T
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_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.40863531C>T, NC_000017.10:g.39019783C>T, NG_008077.1:g.8680G>A, NM_000223.4:c.1049G>A, NM_000223.3:c.1049G>A, NW_003871091.1:g.12799C>T, NP_000214.1:p.Arg350His

Select item 148444357219.

rs1484443572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:40862723 (GRCh38)
17:39018975 (GRCh37)
Canonical SPDI:: NC_000017.11:40862722:T:A
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40862723T>A, NC_000017.10:g.39018975T>A, NG_008077.1:g.9488A>T, NW_003871091.1:g.11991T>A

Select item 148411737420.

rs1484117374 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40863345 (GRCh38)
17:39019597 (GRCh37)
Canonical SPDI:: NC_000017.11:40863344:T:C
Gene:: KRT12 (Varview), LOC105371777 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,splice_acceptor_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.40863345T>C, NC_000017.10:g.39019597T>C, NG_008077.1:g.8866A>G, NW_003871091.1:g.12613T>C

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