SNP Links for Gene (Select 3889) - SNP

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Items: 1 to 20 of 2581

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Select item 14908288501.

rs1490828850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52321296 (GRCh38)
12:52715080 (GRCh37)
Canonical SPDI:: NC_000012.12:52321295:G:A
Gene:: KRT83 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52321296G>A, NC_000012.11:g.52715080G>A, NG_008352.1:g.5103C>T, NM_002282.3:c.40C>T, NP_002273.3:p.Pro14Ser

Select item 14908030092.

rs1490803009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:52322346 (GRCh38)
12:52716130 (GRCh37)
Canonical SPDI:: NC_000012.12:52322345:G:C
Gene:: KRT83 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52322346G>C, NC_000012.11:g.52716130G>C, NG_008352.1:g.4053C>G

Select item 14900335233.

rs1490033523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:52316443 (GRCh38)
12:52710227 (GRCh37)
Canonical SPDI:: NC_000012.12:52316442:T:G
Gene:: KRT83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52316443T>G, NC_000012.11:g.52710227T>G, NG_008352.1:g.9956A>C

Select item 14899009724.

rs1489900972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52317483 (GRCh38)
12:52711267 (GRCh37)
Canonical SPDI:: NC_000012.12:52317482:C:T
Gene:: KRT83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52317483C>T, NC_000012.11:g.52711267C>T, NG_008352.1:g.8916G>A

Select item 14898494305.

rs1489849430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52322190 (GRCh38)
12:52715974 (GRCh37)
Canonical SPDI:: NC_000012.12:52322189:G:A
Gene:: KRT83 (Varview)
Functional Consequence:: 2KB_upstream_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_000012.12:g.52322190G>A, NC_000012.11:g.52715974G>A, NG_008352.1:g.4209C>T

Select item 14895806866.

rs1489580686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52315932 (GRCh38)
12:52709716 (GRCh37)
Canonical SPDI:: NC_000012.12:52315931:A:G
Gene:: KRT83 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52315932A>G, NC_000012.11:g.52709716A>G, NG_008352.1:g.10467T>C, NM_002282.3:c.1223T>C, NP_002273.3:p.Ile408Thr

Select item 14895528777.

rs1489552877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:52315734 (GRCh38)
12:52709518 (GRCh37)
Canonical SPDI:: NC_000012.12:52315733:G:T
Gene:: KRT83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.52315734G>T, NC_000012.11:g.52709518G>T, NG_008352.1:g.10665C>A

Select item 14891001858.

rs1489100185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:52316224 (GRCh38)
12:52710008 (GRCh37)
Canonical SPDI:: NC_000012.12:52316223:A:T
Gene:: KRT83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.52316224A>T, NC_000012.11:g.52710008A>T, NG_008352.1:g.10175T>A

Select item 14875569519.

rs1487556951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52319484 (GRCh38)
12:52713268 (GRCh37)
Canonical SPDI:: NC_000012.12:52319483:C:T
Gene:: KRT83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.52319484C>T, NC_000012.11:g.52713268C>T, NG_008352.1:g.6915G>A

Select item 148642851810.

rs1486428518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52321720 (GRCh38)
12:52715504 (GRCh37)
Canonical SPDI:: NC_000012.12:52321719:G:A
Gene:: KRT83 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52321720G>A, NC_000012.11:g.52715504G>A, NG_008352.1:g.4679C>T

Select item 148641840811.

rs1486418408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52319887 (GRCh38)
12:52713671 (GRCh37)
Canonical SPDI:: NC_000012.12:52319886:A:G
Gene:: KRT83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000023/6 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.52319887A>G, NC_000012.11:g.52713671A>G, NG_008352.1:g.6512T>C

Select item 148641491112.

rs1486414911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52320606 (GRCh38)
12:52714390 (GRCh37)
Canonical SPDI:: NC_000012.12:52320605:C:T
Gene:: KRT83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.52320606C>T, NC_000012.11:g.52714390C>T, NG_008352.1:g.5793G>A

Select item 148613148913.

rs1486131489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:52315972 (GRCh38)
12:52709756 (GRCh37)
Canonical SPDI:: NC_000012.12:52315971:G:T
Gene:: KRT83 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000073/3 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52315972G>T, NC_000012.11:g.52709756G>T, NG_008352.1:g.10427C>A, NM_002282.3:c.1183C>A, NP_002273.3:p.Gln395Lys

Select item 148601866014.

rs1486018660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:52314675 (GRCh38)
12:52708459 (GRCh37)
Canonical SPDI:: NC_000012.12:52314674:T:A
Gene:: KRT83 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52314675T>A, NC_000012.11:g.52708459T>A, NG_008352.1:g.11724A>T, NM_002282.3:c.1438A>T, NP_002273.3:p.Asn480Tyr

Select item 148551574415.

rs1485515744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:52323238 (GRCh38)
12:52717022 (GRCh37)
Canonical SPDI:: NC_000012.12:52323237:G:C,NC_000012.12:52323237:G:T
Gene:: KRT83 (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.52323238G>C, NC_000012.12:g.52323238G>T, NC_000012.11:g.52717022G>C, NC_000012.11:g.52717022G>T, NG_008352.1:g.3161C>G, NG_008352.1:g.3161C>A

Select item 148524986216.

rs1485249862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52318609 (GRCh38)
12:52712393 (GRCh37)
Canonical SPDI:: NC_000012.12:52318608:T:C
Gene:: KRT83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.52318609T>C, NC_000012.11:g.52712393T>C, NG_008352.1:g.7790A>G

Select item 148519845517.

rs1485198455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52319648 (GRCh38)
12:52713432 (GRCh37)
Canonical SPDI:: NC_000012.12:52319647:A:G
Gene:: KRT83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52319648A>G, NC_000012.11:g.52713432A>G, NG_008352.1:g.6751T>C

Select item 148516937518.

rs1485169375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:52315114 (GRCh38)
12:52708898 (GRCh37)
Canonical SPDI:: NC_000012.12:52315113:T:G
Gene:: KRT83 (Varview)
Functional Consequence:: 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_000012.12:g.52315114T>G, NC_000012.11:g.52708898T>G, NG_008352.1:g.11285A>C

Select item 148486110219.

rs1484861102 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52319780 (GRCh38)
12:52713564 (GRCh37)
Canonical SPDI:: NC_000012.12:52319779:T:C
Gene:: KRT83 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.52319780T>C, NC_000012.11:g.52713564T>C, NG_008352.1:g.6619A>G

Select item 148417147620.

rs1484171476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:52316917 (GRCh38)
12:52710701 (GRCh37)
Canonical SPDI:: NC_000012.12:52316916:T:A,NC_000012.12:52316916:T:C
Gene:: KRT83 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52316917T>A, NC_000012.12:g.52316917T>C, NC_000012.11:g.52710701T>A, NC_000012.11:g.52710701T>C, NG_008352.1:g.9482A>T, NG_008352.1:g.9482A>G, NM_002282.3:c.857A>T, NM_002282.3:c.857A>G, NP_002273.3:p.Gln286Leu, NP_002273.3:p.Gln286Arg

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