SNP Links for Gene (Select 85294) - SNP

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Select item 14894368081.

rs1489436808 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:41066028 (GRCh38)
17:39222280 (GRCh37)
Canonical SPDI:: NC_000017.11:41066027:T:A,NC_000017.11:41066027:T:C
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00007/1 (TOMMO)
HGVS:: NC_000017.11:g.41066028T>A, NC_000017.11:g.41066028T>C, NC_000017.10:g.39222280T>A, NC_000017.10:g.39222280T>C, NW_025791801.1:g.15831T>A, NW_025791801.1:g.15831T>C, NW_003871091.1:g.215526T>A, NW_003871091.1:g.215526T>C

Select item 14888819482.

rs1488881948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41065630 (GRCh38)
17:39221882 (GRCh37)
Canonical SPDI:: NC_000017.11:41065629:G:A
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.41065630G>A, NC_000017.10:g.39221882G>A, NW_025791801.1:g.15433G>A, NW_003871091.1:g.215128G>A, NM_033184.4:c.216C>T, NM_033184.3:c.216C>T, NM_030977.1:c.216C>T

Select item 14878913523.

rs1487891352 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:41066292 (GRCh38)
17:39222544 (GRCh37)
Canonical SPDI:: NC_000017.11:41066291:T:A
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.41066292T>A, NC_000017.10:g.39222544T>A, NW_025791801.1:g.16095T>A, NW_003871091.1:g.215790T>A

Select item 14878710074.

rs1487871007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:41065537 (GRCh38)
17:39221789 (GRCh37)
Canonical SPDI:: NC_000017.11:41065536:A:C
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.41065537A>C, NC_000017.10:g.39221789A>C, NW_025791801.1:g.15340A>C, NW_003871091.1:g.215035A>C, NM_033184.4:c.309T>G, NM_033184.3:c.309T>G, NM_030977.1:c.309T>G

Select item 14869808915.

rs1486980891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41067357 (GRCh38)
17:39223609 (GRCh37)
Canonical SPDI:: NC_000017.11:41067356:G:C
Gene:: KRTAP2-4 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41067357G>C, NC_000017.10:g.39223609G>C, NW_025791801.1:g.17160G>C, NW_003871091.1:g.216856G>C

Select item 14869301296.

rs1486930129 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:41066414 (GRCh38)
17:39222666 (GRCh37)
Canonical SPDI:: NC_000017.11:41066413:TTTTT:TTTT
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.41066418del, NC_000017.10:g.39222670del, NW_025791801.1:g.16221del, NW_003871091.1:g.215916del

Select item 14854198027.

rs1485419802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41067309 (GRCh38)
17:39223561 (GRCh37)
Canonical SPDI:: NC_000017.11:41067308:C:G
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000071/1 (TOMMO)
G=0.000156/1 (1000Genomes)
G=0.001711/5 (KOREAN)
HGVS:: NC_000017.11:g.41067309C>G, NC_000017.10:g.39223561C>G, NW_025791801.1:g.17112C>G, NW_003871091.1:g.216808C>G

Select item 14849569668.

rs1484956966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41067258 (GRCh38)
17:39223510 (GRCh37)
Canonical SPDI:: NC_000017.11:41067257:C:T
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41067258C>T, NC_000017.10:g.39223510C>T, NW_025791801.1:g.17061C>T, NW_003871091.1:g.216757C>T

Select item 14815803399.

rs1481580339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41065266 (GRCh38)
17:39221518 (GRCh37)
Canonical SPDI:: NC_000017.11:41065265:A:G
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.41065266A>G, NC_000017.10:g.39221518A>G, NW_025791801.1:g.15069A>G, NW_003871091.1:g.214764A>G, NM_033184.4:c.*193T>C, NM_033184.3:c.*193T>C, NM_030977.1:c.*193T>C

Select item 147800813510.

rs1478008135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41065252 (GRCh38)
17:39221504 (GRCh37)
Canonical SPDI:: NC_000017.11:41065251:T:C
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.41065252T>C, NC_000017.10:g.39221504T>C, NW_025791801.1:g.15055T>C, NW_003871091.1:g.214750T>C, NM_033184.4:c.*207A>G, NM_033184.3:c.*207A>G, NM_030977.1:c.*207A>G

Select item 147745637111.

rs1477456371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41066405 (GRCh38)
17:39222657 (GRCh37)
Canonical SPDI:: NC_000017.11:41066404:G:C
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.41066405G>C, NC_000017.10:g.39222657G>C, NW_025791801.1:g.16208G>C, NW_003871091.1:g.215903G>C

Select item 147733064812.

rs1477330648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41066086 (GRCh38)
17:39222338 (GRCh37)
Canonical SPDI:: NC_000017.11:41066085:G:A
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0./0 (KOREAN)
A=0.000008/2 (TOPMED)
A=0.000106/2 (TOMMO)
A=0.002333/3 (Korea1K)
HGVS:: NC_000017.11:g.41066086G>A, NC_000017.10:g.39222338G>A, NW_025791801.1:g.15889G>A, NW_003871091.1:g.215584G>A

Select item 147647588613.

rs1476475886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:41066819 (GRCh38)
17:39223071 (GRCh37)
Canonical SPDI:: NC_000017.11:41066818:G:T
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.41066819G>T, NC_000017.10:g.39223071G>T, NW_025791801.1:g.16622G>T, NW_003871091.1:g.216317G>T

Select item 147550095814.

rs1475500958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:41067252 (GRCh38)
17:39223504 (GRCh37)
Canonical SPDI:: NC_000017.11:41067251:C:A
Gene:: KRTAP2-4 (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_000017.11:g.41067252C>A, NC_000017.10:g.39223504C>A, NW_025791801.1:g.17055C>A, NW_003871091.1:g.216751C>A

Select item 147403391815.

rs1474033918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41067857 (GRCh38)
17:39224109 (GRCh37)
Canonical SPDI:: NC_000017.11:41067856:T:C
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.41067857T>C, NC_000017.10:g.39224109T>C, NW_025791801.1:g.17660T>C, NW_003871091.1:g.217356T>C

Select item 147334632616.

rs1473346326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41067830 (GRCh38)
17:39224082 (GRCh37)
Canonical SPDI:: NC_000017.11:41067829:C:T
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41067830C>T, NC_000017.10:g.39224082C>T, NW_025791801.1:g.17633C>T, NW_003871091.1:g.217329C>T

Select item 147249172517.

rs1472491725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:41065651 (GRCh38)
17:39221903 (GRCh37)
Canonical SPDI:: NC_000017.11:41065650:G:A,NC_000017.11:41065650:G:T
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41065651G>A, NC_000017.11:g.41065651G>T, NC_000017.10:g.39221903G>A, NC_000017.10:g.39221903G>T, NW_025791801.1:g.15454G>A, NW_025791801.1:g.15454G>T, NW_003871091.1:g.215149G>A, NW_003871091.1:g.215149G>T, NM_033184.4:c.195C>T, NM_033184.4:c.195C>A, NM_033184.3:c.195C>T, NM_033184.3:c.195C>A, NM_030977.1:c.195C>T, NM_030977.1:c.195C>A, NP_149440.1:p.Asp65Glu

Select item 147246220118.

rs1472462201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41064995 (GRCh38)
17:39221247 (GRCh37)
Canonical SPDI:: NC_000017.11:41064994:T:C
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000017.11:g.41064995T>C, NC_000017.10:g.39221247T>C, NW_025791801.1:g.14798T>C, NW_003871091.1:g.214493T>C

Select item 147096165819.

rs1470961658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41065053 (GRCh38)
17:39221305 (GRCh37)
Canonical SPDI:: NC_000017.11:41065052:C:T
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41065053C>T, NC_000017.10:g.39221305C>T, NW_025791801.1:g.14856C>T, NW_003871091.1:g.214551C>T

Select item 146988221020.

rs1469882210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41065880 (GRCh38)
17:39222132 (GRCh37)
Canonical SPDI:: NC_000017.11:41065879:G:C
Gene:: KRTAP2-4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41065880G>C, NC_000017.10:g.39222132G>C, NW_025791801.1:g.15683G>C, NW_003871091.1:g.215378G>C