SNP Links for Nucleotide (Select 194473693) - SNP

Links from Nucleotide

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Select item 14907453141.

rs1490745314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:52489772 (GRCh38)
12:52883556 (GRCh37)
Canonical SPDI:: NC_000012.12:52489771:T:C,NC_000012.12:52489771:T:G
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.52489772T>C, NC_000012.12:g.52489772T>G, NC_000012.11:g.52883556T>C, NC_000012.11:g.52883556T>G, NG_008298.1:g.8626A>G, NG_008298.1:g.8626A>C

Select item 14905882722.

rs1490588272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52493050 (GRCh38)
12:52886834 (GRCh37)
Canonical SPDI:: NC_000012.12:52493049:G:A
Gene:: KRT6A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52493050G>A, NC_000012.11:g.52886834G>A, NG_008298.1:g.5348C>T, NM_005554.4:c.139C>T, NM_005554.3:c.139C>T, NM_058242.1:c.139C>T

Select item 14902452863.

rs1490245286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52490762 (GRCh38)
12:52884546 (GRCh37)
Canonical SPDI:: NC_000012.12:52490761:T:C
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52490762T>C, NC_000012.11:g.52884546T>C, NG_008298.1:g.7636A>G

Select item 14901561474.

rs1490156147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:52494080 (GRCh38)
12:52887864 (GRCh37)
Canonical SPDI:: NC_000012.12:52494079:G:A,NC_000012.12:52494079:G:T
Gene:: KRT6A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.52494080G>A, NC_000012.12:g.52494080G>T, NC_000012.11:g.52887864G>A, NC_000012.11:g.52887864G>T, NG_008298.1:g.4318C>T, NG_008298.1:g.4318C>A

Select item 14901409705.

rs1490140970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:52492290 (GRCh38)
12:52886074 (GRCh37)
Canonical SPDI:: NC_000012.12:52492289:A:G,NC_000012.12:52492289:A:T
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.52492290A>G, NC_000012.12:g.52492290A>T, NC_000012.11:g.52886074A>G, NC_000012.11:g.52886074A>T, NG_008298.1:g.6108T>C, NG_008298.1:g.6108T>A

Select item 14898381066.

rs1489838106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52489453 (GRCh38)
12:52883237 (GRCh37)
Canonical SPDI:: NC_000012.12:52489452:G:A
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52489453G>A, NC_000012.11:g.52883237G>A, NG_008298.1:g.8945C>T

Select item 14893918757.

rs1489391875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:52492972 (GRCh38)
12:52886756 (GRCh37)
Canonical SPDI:: NC_000012.12:52492971:C:A
Gene:: KRT6A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000012.12:g.52492972C>A, NC_000012.11:g.52886756C>A, NG_008298.1:g.5426G>T, NM_005554.4:c.217G>T, NM_005554.3:c.217G>T, NM_058242.1:c.217G>T, NP_005545.1:p.Gly73Ter

Select item 14891785968.

rs1489178596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:52488963 (GRCh38)
12:52882747 (GRCh37)
Canonical SPDI:: NC_000012.12:52488962:G:A,NC_000012.12:52488962:G:T
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.52488963G>A, NC_000012.12:g.52488963G>T, NC_000012.11:g.52882747G>A, NC_000012.11:g.52882747G>T, NG_008298.1:g.9435C>T, NG_008298.1:g.9435C>A

Select item 14891465879.

rs1489146587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:52496290 (GRCh38)
12:52890074 (GRCh37)
Canonical SPDI:: NC_000012.12:52496289:G:A,NC_000012.12:52496289:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52496290G>A, NC_000012.12:g.52496290G>T, NC_000012.11:g.52890074G>A, NC_000012.11:g.52890074G>T, NG_008298.1:g.2108C>T, NG_008298.1:g.2108C>A

Select item 148885143310.

rs1488851433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:52489022 (GRCh38)
12:52882806 (GRCh37)
Canonical SPDI:: NC_000012.12:52489021:C:G,NC_000012.12:52489021:C:T
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
G=0.000312/2 (1000Genomes)
T=0.001667/1 (NorthernSweden)
HGVS:: NC_000012.12:g.52489022C>G, NC_000012.12:g.52489022C>T, NC_000012.11:g.52882806C>G, NC_000012.11:g.52882806C>T, NG_008298.1:g.9376G>C, NG_008298.1:g.9376G>A

Select item 148851112411.

rs1488511124 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52485522 (GRCh38)
12:52879306 (GRCh37)
Canonical SPDI:: NC_000012.12:52485521:C:T
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000012.12:g.52485522C>T, NC_000012.11:g.52879306C>T, NG_008298.1:g.12876G>A

Select item 148841643512.

rs1488416435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52488258 (GRCh38)
12:52882042 (GRCh37)
Canonical SPDI:: NC_000012.12:52488257:A:G
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000045/12 (TOPMED)
HGVS:: NC_000012.12:g.52488258A>G, NC_000012.11:g.52882042A>G, NG_008298.1:g.10140T>C

Select item 148840325213.

rs1488403252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:52489139 (GRCh38)
12:52882923 (GRCh37)
Canonical SPDI:: NC_000012.12:52489138:C:A,NC_000012.12:52489138:C:T
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52489139C>A, NC_000012.12:g.52489139C>T, NC_000012.11:g.52882923C>A, NC_000012.11:g.52882923C>T, NG_008298.1:g.9259G>T, NG_008298.1:g.9259G>A

Select item 148829985614.

rs1488299856 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 12:52491639 (GRCh38)
12:52885423 (GRCh37)
Canonical SPDI:: NC_000012.12:52491638:AA:A
Gene:: KRT6A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52491640del, NC_000012.11:g.52885424del, NG_008298.1:g.6759del, NM_005554.4:c.638del, NM_005554.3:c.638del, NM_058242.1:c.638del, NP_005545.1:p.Leu213fs

Select item 148814761415.

rs1488147614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52496729 (GRCh38)
12:52890513 (GRCh37)
Canonical SPDI:: NC_000012.12:52496728:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.52496729G>A, NC_000012.11:g.52890513G>A, NG_008298.1:g.1669C>T

Select item 148809859316.

rs1488098593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:52487791 (GRCh38)
12:52881575 (GRCh37)
Canonical SPDI:: NC_000012.12:52487790:C:A,NC_000012.12:52487790:C:T
Gene:: KRT6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.52487791C>A, NC_000012.12:g.52487791C>T, NC_000012.11:g.52881575C>A, NC_000012.11:g.52881575C>T, NG_008298.1:g.10607G>T, NG_008298.1:g.10607G>A, NM_005554.4:c.1624G>T, NM_005554.4:c.1624G>A, NM_005554.3:c.1624G>T, NM_005554.3:c.1624G>A, NM_058242.1:c.1624G>T, NM_058242.1:c.1624G>A, NP_005545.1:p.Val542Phe, NP_005545.1:p.Val542Ile

Select item 148809168117.

rs1488091681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52488957 (GRCh38)
12:52882741 (GRCh37)
Canonical SPDI:: NC_000012.12:52488956:G:A
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52488957G>A, NC_000012.11:g.52882741G>A, NG_008298.1:g.9441C>T

Select item 148783939718.

rs1487839397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52492986 (GRCh38)
12:52886770 (GRCh37)
Canonical SPDI:: NC_000012.12:52492985:T:C
Gene:: KRT6A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52492986T>C, NC_000012.11:g.52886770T>C, NG_008298.1:g.5412A>G, NM_005554.4:c.203A>G, NM_005554.3:c.203A>G, NM_058242.1:c.203A>G, NP_005545.1:p.Lys68Arg

Select item 148767017519.

rs1487670175 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:52491328 (GRCh38)
12:52885112 (GRCh37)
Canonical SPDI:: NC_000012.12:52491327:G:A,NC_000012.12:52491327:G:C
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52491328G>A, NC_000012.12:g.52491328G>C, NC_000012.11:g.52885112G>A, NC_000012.11:g.52885112G>C, NG_008298.1:g.7070C>T, NG_008298.1:g.7070C>G

Select item 148719370820.

rs1487193708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52490203 (GRCh38)
12:52883987 (GRCh37)
Canonical SPDI:: NC_000012.12:52490202:A:G
Gene:: KRT6A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52490203A>G, NC_000012.11:g.52883987A>G, NG_008298.1:g.8195T>C

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