SNP Links for Gene (Select 338785) - SNP

Links from Gene

Items: 1 to 20 of 3880

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Select item 14909393731.

rs1490939373 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52824809 (GRCh38)
12:53218593 (GRCh37)
Canonical SPDI:: NC_000012.12:52824808:A:G
Gene:: KRT79 (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.52824809A>G, NC_000012.11:g.53218593A>G, NG_012323.1:g.14485T>C

Select item 14909241932.

rs1490924193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52824836 (GRCh38)
12:53218620 (GRCh37)
Canonical SPDI:: NC_000012.12:52824835:G:A
Gene:: KRT79 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000671/3 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00067/3 (Estonian)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000012.12:g.52824836G>A, NC_000012.11:g.53218620G>A, NG_012323.1:g.14458C>T

Select item 14906996223.

rs1490699622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52832435 (GRCh38)
12:53226219 (GRCh37)
Canonical SPDI:: NC_000012.12:52832434:G:A
Gene:: KRT79 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52832435G>A, NC_000012.11:g.53226219G>A, NG_012323.1:g.6859C>T

Select item 14902636794.

rs1490263679 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTCACATGCAG [Show Flanks]
Chromosome:: 12:52830951 (GRCh38)
12:53224736 (GRCh37)
Canonical SPDI:: NC_000012.12:52830951::CTCACATGCAG
Gene:: KRT79 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCACATGCAG=0./0 (ALFA)
HGVS:: NC_000012.12:g.52830951_52830952insCTCACATGCAG, NC_000012.11:g.53224735_53224736insCTCACATGCAG, NG_012323.1:g.8342_8343insCTGCATGTGAG

Select item 14901053125.

rs1490105312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52826070 (GRCh38)
12:53219854 (GRCh37)
Canonical SPDI:: NC_000012.12:52826069:G:A
Gene:: KRT79 (Varview)
Functional Consequence:: intron_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.52826070G>A, NC_000012.11:g.53219854G>A, NG_012323.1:g.13224C>T

Select item 14900793386.

rs1490079338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:52828478 (GRCh38)
12:53222262 (GRCh37)
Canonical SPDI:: NC_000012.12:52828477:T:A
Gene:: KRT79 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.52828478T>A, NC_000012.11:g.53222262T>A, NG_012323.1:g.10816A>T

Select item 14899565377.

rs1489956537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:52823963 (GRCh38)
12:53217747 (GRCh37)
Canonical SPDI:: NC_000012.12:52823962:T:A,NC_000012.12:52823962:T:C
Gene:: KRT79 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52823963T>A, NC_000012.12:g.52823963T>C, NC_000012.11:g.53217747T>A, NC_000012.11:g.53217747T>C, NG_012323.1:g.15331A>T, NG_012323.1:g.15331A>G, NM_175834.3:c.1070A>T, NM_175834.3:c.1070A>G, NM_175834.2:c.1070A>T, NM_175834.2:c.1070A>G, NP_787028.1:p.Asp357Val, NP_787028.1:p.Asp357Gly

Select item 14897535068.

rs1489753506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:52830380 (GRCh38)
12:53224164 (GRCh37)
Canonical SPDI:: NC_000012.12:52830379:G:A,NC_000012.12:52830379:G:T
Gene:: KRT79 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52830380G>A, NC_000012.12:g.52830380G>T, NC_000012.11:g.53224164G>A, NC_000012.11:g.53224164G>T, NG_012323.1:g.8914C>T, NG_012323.1:g.8914C>A

Select item 14894893639.

rs1489489363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52829523 (GRCh38)
12:53223307 (GRCh37)
Canonical SPDI:: NC_000012.12:52829522:A:G
Gene:: KRT79 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52829523A>G, NC_000012.11:g.53223307A>G, NG_012323.1:g.9771T>C

Select item 148927663710.

rs1489276637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52836081 (GRCh38)
12:53229865 (GRCh37)
Canonical SPDI:: NC_000012.12:52836080:C:T
Gene:: KRT79 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00011/3 (TOMMO)
T=0.00034/1 (KOREAN)
HGVS:: NC_000012.12:g.52836081C>T, NC_000012.11:g.53229865C>T, NG_012323.1:g.3213G>A

Select item 148918507411.

rs1489185074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:52822595 (GRCh38)
12:53216379 (GRCh37)
Canonical SPDI:: NC_000012.12:52822594:C:A
Gene:: KRT79 (Varview)
Functional Consequence:: intron_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.52822595C>A, NC_000012.11:g.53216379C>A, NG_012323.1:g.16699G>T

Select item 148887785712.

rs1488877857 [Homo sapiens]

Variant type:: DEL
Alleles:: GGTCACCCCC>- [Show Flanks]
Chromosome:: 12:52821618 (GRCh38)
12:53215402 (GRCh37)
Canonical SPDI:: NC_000012.12:52821617:GGTCACCCCC:
Gene:: KRT79 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.52821618_52821627del, NC_000012.11:g.53215402_53215411del, NG_012323.1:g.17667_17676del, NM_175834.3:c.*245_*254del, NM_175834.2:c.*245_*254del

Select item 148799489913.

rs1487994899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:52828913 (GRCh38)
12:53222697 (GRCh37)
Canonical SPDI:: NC_000012.12:52828912:C:G
Gene:: KRT79 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.52828913C>G, NC_000012.11:g.53222697C>G, NG_012323.1:g.10381G>C

Select item 148798204414.

rs1487982044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:52821002 (GRCh38)
12:53214786 (GRCh37)
Canonical SPDI:: NC_000012.12:52821001:C:G
Gene:: KRT79 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.52821002C>G, NC_000012.11:g.53214786C>G, NG_012323.1:g.18292G>C

Select item 148795568815.

rs1487955688 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:52825964 (GRCh38)
12:53219748 (GRCh37)
Canonical SPDI:: NC_000012.12:52825963:A:C
Gene:: KRT79 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.52825964A>C, NC_000012.11:g.53219748A>C, NG_012323.1:g.13330T>G

Select item 148791551316.

rs1487915513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:52821845 (GRCh38)
12:53215629 (GRCh37)
Canonical SPDI:: NC_000012.12:52821844:T:A
Gene:: KRT79 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.52821845T>A, NC_000012.11:g.53215629T>A, NG_012323.1:g.17449A>T, NM_175834.3:c.*27A>T, NM_175834.2:c.*27A>T

Select item 148782162017.

rs1487821620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:52824583 (GRCh38)
12:53218367 (GRCh37)
Canonical SPDI:: NC_000012.12:52824582:T:G
Gene:: KRT79 (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.52824583T>G, NC_000012.11:g.53218367T>G, NG_012323.1:g.14711A>C

Select item 148775912718.

rs1487759127 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:52824821 (GRCh38)
12:53218605 (GRCh37)
Canonical SPDI:: NC_000012.12:52824820:A:
Gene:: KRT79 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.52824821del, NC_000012.11:g.53218605del, NG_012323.1:g.14473del

Select item 148768827019.

rs1487688270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:52827165 (GRCh38)
12:53220949 (GRCh37)
Canonical SPDI:: NC_000012.12:52827164:C:G
Gene:: KRT79 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.52827165C>G, NC_000012.11:g.53220949C>G, NG_012323.1:g.12129G>C

Select item 148757964520.

rs1487579645 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:52835867 (GRCh38)
12:53229651 (GRCh37)
Canonical SPDI:: NC_000012.12:52835866:A:T
Gene:: KRT79 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.52835867A>T, NC_000012.11:g.53229651A>T, NG_012323.1:g.3427T>A

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