SNP Links for Gene (Select 728224) - SNP

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Select item 14912959421.

rs1491295942 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:41098813 (GRCh38)
17:39255065 (GRCh37)
Canonical SPDI:: NC_000017.11:41098811:TCT:T
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41098813_41098814del, NC_000017.10:g.39255065_39255066del, NW_025791801.1:g.48616_48617del, NW_003871091.1:g.248519dup, NW_003871091.1:g.248502del

Select item 14912368952.

rs1491236895 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14890424583.

rs1489042458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41097635 (GRCh38)
17:39253887 (GRCh37)
Canonical SPDI:: NC_000017.11:41097634:G:C
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41097635G>C, NC_000017.10:g.39253887G>C, NW_025791801.1:g.47438G>C, NW_003871091.1:g.247293G>C, NM_031960.3:c.450C>G, NM_031960.2:c.450C>G, NM_001322457.1:c.480C>G, NP_114166.1:p.Cys150Trp

Select item 14879613654.

rs1487961365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:41099972 (GRCh38)
17:39256224 (GRCh37)
Canonical SPDI:: NC_000017.11:41099971:G:T
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.41099972G>T, NC_000017.10:g.39256224G>T, NW_025791801.1:g.49775G>T, NW_003871091.1:g.249659G>T

Select item 14878466685.

rs1487846668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:41099868 (GRCh38)
17:39256120 (GRCh37)
Canonical SPDI:: NC_000017.11:41099867:C:A
Gene:: KRTAP4-8 (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_000017.11:g.41099868C>A, NC_000017.10:g.39256120C>A, NW_025791801.1:g.49671C>A, NW_003871091.1:g.249555C>A

Select item 14876764366.

rs1487676436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41097093 (GRCh38)
17:39253345 (GRCh37)
Canonical SPDI:: NC_000017.11:41097092:G:A
Gene:: KRTAP4-8 (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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41097093G>A, NC_000017.10:g.39253345G>A, NW_025791801.1:g.46896G>A, NW_003871091.1:g.246751G>A, NM_031960.3:c.*434C>T, NM_031960.2:c.*434C>T, NM_001322457.1:c.*434C>T

Select item 14873393487.

rs1487339348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41097171 (GRCh38)
17:39253423 (GRCh37)
Canonical SPDI:: NC_000017.11:41097170:T:C
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41097171T>C, NC_000017.10:g.39253423T>C, NW_025791801.1:g.46974T>C, NW_003871091.1:g.246829T>C, NM_031960.3:c.*356A>G, NM_031960.2:c.*356A>G, NM_001322457.1:c.*356A>G

Select item 14872870788.

rs1487287078 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:41097747 (GRCh38)
17:39253999 (GRCh37)
Canonical SPDI:: NC_000017.11:41097746:T:C,NC_000017.11:41097746:T:G
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41097747T>C, NC_000017.11:g.41097747T>G, NC_000017.10:g.39253999T>C, NC_000017.10:g.39253999T>G, NW_025791801.1:g.47550T>C, NW_025791801.1:g.47550T>G, NW_003871091.1:g.247405T>C, NW_003871091.1:g.247405T>G, NM_031960.3:c.338A>G, NM_031960.3:c.338A>C, NM_031960.2:c.338A>G, NM_031960.2:c.338A>C, NM_001322457.1:c.368A>G, NM_001322457.1:c.368A>C, NP_114166.1:p.Gln113Arg, NP_114166.1:p.Gln113Pro

Select item 14869846569.

rs1486984656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41099219 (GRCh38)
17:39255471 (GRCh37)
Canonical SPDI:: NC_000017.11:41099218:C:T
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41099219C>T, NC_000017.10:g.39255471C>T, NW_025791801.1:g.49022C>T, NW_003871091.1:g.248906C>T

Select item 148669640010.

rs1486696400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:41097402 (GRCh38)
17:39253654 (GRCh37)
Canonical SPDI:: NC_000017.11:41097401:G:C,NC_000017.11:41097401:G:T
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.41097402G>C, NC_000017.11:g.41097402G>T, NC_000017.10:g.39253654G>C, NC_000017.10:g.39253654G>T, NW_025791801.1:g.47205G>C, NW_025791801.1:g.47205G>T, NW_003871091.1:g.247060G>C, NW_003871091.1:g.247060G>T, NM_031960.3:c.*125C>G, NM_031960.3:c.*125C>A, NM_031960.2:c.*125C>G, NM_031960.2:c.*125C>A, NM_001322457.1:c.*125C>G, NM_001322457.1:c.*125C>A

Select item 148664119211.

rs1486641192 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41098669 (GRCh38)
17:39254921 (GRCh37)
Canonical SPDI:: NC_000017.11:41098668:A:G
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.41098669A>G, NC_000017.10:g.39254921A>G, NW_025791801.1:g.48472A>G, NW_003871091.1:g.248358A>G

Select item 148640375212.

rs1486403752 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:41098300 (GRCh38)
17:39254553 (GRCh37)
Canonical SPDI:: NC_000017.11:41098300:A:AA
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.41098301dup, NC_000017.10:g.39254553dup, NW_025791801.1:g.48104dup, NW_003871091.1:g.247990dup

Select item 148440371813.

rs1484403718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:41099067 (GRCh38)
17:39255319 (GRCh37)
Canonical SPDI:: NC_000017.11:41099066:T:A,NC_000017.11:41099066:T:C
Gene:: KRTAP4-8 (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)
HGVS:: NC_000017.11:g.41099067T>A, NC_000017.11:g.41099067T>C, NC_000017.10:g.39255319T>A, NC_000017.10:g.39255319T>C, NW_025791801.1:g.48870T>A, NW_025791801.1:g.48870T>C, NW_003871091.1:g.248754T>A, NW_003871091.1:g.248754T>C

Select item 148413802714.

rs1484138027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41097698 (GRCh38)
17:39253950 (GRCh37)
Canonical SPDI:: NC_000017.11:41097697:G:A
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41097698G>A, NC_000017.10:g.39253950G>A, NW_025791801.1:g.47501G>A, NW_003871091.1:g.247356G>A, NM_031960.3:c.387C>T, NM_031960.2:c.387C>T, NM_001322457.1:c.417C>T

Select item 148287107715.

rs1482871077 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41097322 (GRCh38)
17:39253574 (GRCh37)
Canonical SPDI:: NC_000017.11:41097321:A:G
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.41097322A>G, NC_000017.10:g.39253574A>G, NW_025791801.1:g.47125A>G, NW_003871091.1:g.246980A>G, NM_031960.3:c.*205T>C, NM_031960.2:c.*205T>C, NM_001322457.1:c.*205T>C

Select item 148284363316.

rs1482843633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:41098936 (GRCh38)
17:39255188 (GRCh37)
Canonical SPDI:: NC_000017.11:41098935:T:G
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.41098936T>G, NC_000017.10:g.39255188T>G, NW_025791801.1:g.48739T>G, NW_003871091.1:g.248623T>G

Select item 148238982017.

rs1482389820 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:41099331 (GRCh38)
17:39255583 (GRCh37)
Canonical SPDI:: NC_000017.11:41099330:A:C
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000447/2 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41099331A>C, NC_000017.10:g.39255583A>C, NW_025791801.1:g.49134A>C, NW_003871091.1:g.249018A>C

Select item 147981186418.

rs1479811864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:41097977 (GRCh38)
17:39254229 (GRCh37)
Canonical SPDI:: NC_000017.11:41097976:C:A
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41097977C>A, NC_000017.10:g.39254229C>A, NW_025791801.1:g.47780C>A, NW_003871091.1:g.247665C>A, NM_031960.3:c.108G>T, NM_031960.2:c.108G>T, NM_001322457.1:c.108G>T, NP_114166.1:p.Arg36Ser

Select item 147974281119.

rs1479742811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:41096705 (GRCh38)
17:39252957 (GRCh37)
Canonical SPDI:: NC_000017.11:41096704:T:A,NC_000017.11:41096704:T:C
Gene:: KRTAP4-8 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.41096705T>A, NC_000017.11:g.41096705T>C, NC_000017.10:g.39252957T>A, NC_000017.10:g.39252957T>C, NW_025791801.1:g.46508T>A, NW_025791801.1:g.46508T>C, NW_003871091.1:g.246363T>A, NW_003871091.1:g.246363T>C

Select item 147837235720.

rs1478372357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:41099680 (GRCh38)
17:39255932 (GRCh37)
Canonical SPDI:: NC_000017.11:41099679:G:T
Gene:: KRTAP4-8 (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=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.41099680G>T, NC_000017.10:g.39255932G>T, NW_025791801.1:g.49483G>T, NW_003871091.1:g.249367G>T

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