SNP Links for Protein (Select 472339083) - SNP

Links from Protein

Items: 1 to 20 of 158

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Select item 14829252781.

rs1482925278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:41265674 (GRCh38)
17:39421926 (GRCh37)
Canonical SPDI:: NC_000017.11:41265673:C:A,NC_000017.11:41265673:C:G
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.41265674C>A, NC_000017.11:g.41265674C>G, NC_000017.10:g.39421926C>A, NC_000017.10:g.39421926C>G, NW_003871093.1:g.41436G>T, NW_003871093.1:g.41436G>C, NW_003871092.1:g.31134G>T, NW_003871092.1:g.31134G>C, NM_001277331.1:c.297C>A, NM_001277331.1:c.297C>G, XM_003846481.1:c.297C>A, XM_003846481.1:c.297C>G, NM_001277332.1:c.282C>A, NM_001277332.1:c.282C>G

Select item 14673823442.

rs1467382344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41265575 (GRCh38)
17:39421827 (GRCh37)
Canonical SPDI:: NC_000017.11:41265574:C:T
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.41265575C>T, NC_000017.10:g.39421827C>T, NW_003871093.1:g.41535G>A, NW_003871092.1:g.31233G>A, NM_001277331.1:c.198C>T, XM_003846481.1:c.198C>T, NM_001277332.1:c.183C>T

Select item 14562653673.

rs1456265367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41265695 (GRCh38)
17:39421947 (GRCh37)
Canonical SPDI:: NC_000017.11:41265694:C:T
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.41265695C>T, NC_000017.10:g.39421947C>T, NW_003871093.1:g.41415G>A, NW_003871092.1:g.31113G>A, NM_001277331.1:c.318C>T, XM_003846481.1:c.318C>T, NM_001277332.1:c.303C>T

Select item 14534605974.

rs1453460597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:41265657 (GRCh38)
17:39421909 (GRCh37)
Canonical SPDI:: NC_000017.11:41265656:A:T
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.41265657A>T, NC_000017.10:g.39421909A>T, NW_003871093.1:g.41453T>A, NW_003871092.1:g.31151T>A, NM_001277331.1:c.280A>T, XM_003846481.1:c.280A>T, NM_001277332.1:c.265A>T, NP_001264260.1:p.Ser94Cys

Select item 14495299865.

rs1449529986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:41265490 (GRCh38)
17:39421742 (GRCh37)
Canonical SPDI:: NC_000017.11:41265489:G:A,NC_000017.11:41265489:G:C
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41265490G>A, NC_000017.11:g.41265490G>C, NC_000017.10:g.39421742G>A, NC_000017.10:g.39421742G>C, NW_003871093.1:g.41620C>T, NW_003871093.1:g.41620C>G, NW_003871092.1:g.31318C>T, NW_003871092.1:g.31318C>G, NM_001277331.1:c.113G>A, NM_001277331.1:c.113G>C, XM_003846481.1:c.113G>A, XM_003846481.1:c.113G>C, NM_001277332.1:c.98G>A, NM_001277332.1:c.98G>C, NP_001264260.1:p.Cys38Tyr, NP_001264260.1:p.Cys38Ser

Select item 14428783336.

rs1442878333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41265765 (GRCh38)
17:39422017 (GRCh37)
Canonical SPDI:: NC_000017.11:41265764:G:C
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000015/1 (GnomAD)
HGVS:: NC_000017.11:g.41265765G>C, NC_000017.10:g.39422017G>C, NW_003871093.1:g.41345C>G, NW_003871092.1:g.31043C>G, NM_001277331.1:c.388G>C, XM_003846481.1:c.388G>C, NM_001277332.1:c.373G>C, NP_001264260.1:p.Gly130Arg

Select item 14318342677.

rs1431834267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41265613 (GRCh38)
17:39421865 (GRCh37)
Canonical SPDI:: NC_000017.11:41265612:C:G
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.0119/107 (ALFA)
HGVS:: NC_000017.11:g.41265613C>G, NC_000017.10:g.39421865C>G, NW_003871093.1:g.41497G>C, NW_003871092.1:g.31195G>C, NM_001277331.1:c.236C>G, XM_003846481.1:c.236C>G, NM_001277332.1:c.221C>G, NP_001264260.1:p.Ser79Cys

Select item 14288972858.

rs1428897285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41265797 (GRCh38)
17:39422049 (GRCh37)
Canonical SPDI:: NC_000017.11:41265796:C:T
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.41265797C>T, NC_000017.10:g.39422049C>T, NW_003871093.1:g.41313G>A, NW_003871092.1:g.31011G>A, NM_001277331.1:c.420C>T, XM_003846481.1:c.420C>T, NM_001277332.1:c.405C>T

Select item 14167493209.

rs1416749320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41265556 (GRCh38)
17:39421808 (GRCh37)
Canonical SPDI:: NC_000017.11:41265555:C:T
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.41265556C>T, NC_000017.10:g.39421808C>T, NW_003871093.1:g.41554G>A, NW_003871092.1:g.31252G>A, NM_001277331.1:c.179C>T, XM_003846481.1:c.179C>T, NM_001277332.1:c.164C>T, NP_001264260.1:p.Thr60Ile

Select item 141299413510.

rs1412994135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:41265616 (GRCh38)
17:39421868 (GRCh37)
Canonical SPDI:: NC_000017.11:41265615:G:A,NC_000017.11:41265615:G:C
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.41265616G>A, NC_000017.11:g.41265616G>C, NC_000017.10:g.39421868G>A, NC_000017.10:g.39421868G>C, NW_003871093.1:g.41494C>T, NW_003871093.1:g.41494C>G, NW_003871092.1:g.31192C>T, NW_003871092.1:g.31192C>G, NM_001277331.1:c.239G>A, NM_001277331.1:c.239G>C, XM_003846481.1:c.239G>A, XM_003846481.1:c.239G>C, NM_001277332.1:c.224G>A, NM_001277332.1:c.224G>C, NP_001264260.1:p.Cys80Tyr, NP_001264260.1:p.Cys80Ser

Select item 140998295111.

rs1409982951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:41265644 (GRCh38)
17:39421896 (GRCh37)
Canonical SPDI:: NC_000017.11:41265643:C:A
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.41265644C>A, NC_000017.10:g.39421896C>A, NW_003871093.1:g.41466G>T, NW_003871092.1:g.31164G>T, NM_001277331.1:c.267C>A, XM_003846481.1:c.267C>A, NM_001277332.1:c.252C>A

Select item 140896361212.

rs1408963612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:41265710 (GRCh38)
17:39421962 (GRCh37)
Canonical SPDI:: NC_000017.11:41265709:T:C,NC_000017.11:41265709:T:G
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000018/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41265710T>C, NC_000017.11:g.41265710T>G, NC_000017.10:g.39421962T>C, NC_000017.10:g.39421962T>G, NW_003871093.1:g.41400A>G, NW_003871093.1:g.41400A>C, NW_003871092.1:g.31098A>G, NW_003871092.1:g.31098A>C, NM_001277331.1:c.333T>C, NM_001277331.1:c.333T>G, XM_003846481.1:c.333T>C, XM_003846481.1:c.333T>G, NM_001277332.1:c.318T>C, NM_001277332.1:c.318T>G, NP_001264260.1:p.Cys111Trp

Select item 139483548813.

rs1394835488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41265659 (GRCh38)
17:39421911 (GRCh37)
Canonical SPDI:: NC_000017.11:41265658:C:G
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.41265659C>G, NC_000017.10:g.39421911C>G, NW_003871093.1:g.41451G>C, NW_003871092.1:g.31149G>C, NM_001277331.1:c.282C>G, XM_003846481.1:c.282C>G, NM_001277332.1:c.267C>G, NP_001264260.1:p.Ser94Arg

Select item 139150723414.

rs1391507234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:41265650 (GRCh38)
17:39421902 (GRCh37)
Canonical SPDI:: NC_000017.11:41265649:T:C
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41265650T>C, NC_000017.10:g.39421902T>C, NW_003871093.1:g.41460A>G, NW_003871092.1:g.31158A>G, NM_001277331.1:c.273T>C, XM_003846481.1:c.273T>C, NM_001277332.1:c.258T>C

Select item 138987119715.

rs1389871197 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41265631 (GRCh38)
17:39421883 (GRCh37)
Canonical SPDI:: NC_000017.11:41265630:G:A
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.41265631G>A, NC_000017.10:g.39421883G>A, NW_003871093.1:g.41479C>T, NW_003871092.1:g.31177C>T, NM_001277331.1:c.254G>A, XM_003846481.1:c.254G>A, NM_001277332.1:c.239G>A, NP_001264260.1:p.Cys85Tyr

Select item 138960347516.

rs1389603475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:41265566 (GRCh38)
17:39421818 (GRCh37)
Canonical SPDI:: NC_000017.11:41265565:G:C,NC_000017.11:41265565:G:T
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41265566G>C, NC_000017.11:g.41265566G>T, NC_000017.10:g.39421818G>C, NC_000017.10:g.39421818G>T, NW_003871093.1:g.41544C>G, NW_003871093.1:g.41544C>A, NW_003871092.1:g.31242C>G, NW_003871092.1:g.31242C>A, NM_001277331.1:c.189G>C, NM_001277331.1:c.189G>T, XM_003846481.1:c.189G>C, XM_003846481.1:c.189G>T, NM_001277332.1:c.174G>C, NM_001277332.1:c.174G>T, NP_001264260.1:p.Arg63Ser, NP_001264260.1:p.Arg63Ser

Select item 138488163117.

rs1384881631 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCC [Show Flanks]
Chromosome:: 17:41265633 (GRCh38)
17:39421886 (GRCh37)
Canonical SPDI:: NC_000017.11:41265633::GCC
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency
MAF:: GCC=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41265633_41265634insGCC, NC_000017.10:g.39421885_39421886insGCC, NW_003871093.1:g.41476_41477insGGC, NW_003871092.1:g.31172_31174dup, NM_001277331.1:c.256_257insGCC, XM_003846481.1:c.257_259dup, NM_001277332.1:c.242_244dup, NP_001264260.1:p.Tyr86delinsCysHis

Select item 138082681618.

rs1380826816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41265714 (GRCh38)
17:39421966 (GRCh37)
Canonical SPDI:: NC_000017.11:41265713:C:T
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41265714C>T, NC_000017.10:g.39421966C>T, NW_003871093.1:g.41396G>A, NW_003871092.1:g.31094G>A, NM_001277331.1:c.337C>T, XM_003846481.1:c.337C>T, NM_001277332.1:c.322C>T, NP_001264260.1:p.Pro113Ser

Select item 137640109319.

rs1376401093 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:41265848 (GRCh38)
17:39422100 (GRCh37)
Canonical SPDI:: NC_000017.11:41265847:TT:T
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000169/2 (ALFA)
-=0.000018/2 (GnomAD_exomes)
-=0.000028/2 (GnomAD)
HGVS:: NC_000017.11:g.41265849del, NC_000017.10:g.39422101del, NW_003871093.1:g.41262del, NM_001277331.1:c.472del, NP_001264260.1:p.Ser158fs

Select item 135565683820.

rs1355656838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:41265724 (GRCh38)
17:39421976 (GRCh37)
Canonical SPDI:: NC_000017.11:41265723:G:T
Gene:: KRTAP9-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.41265724G>T, NC_000017.10:g.39421976G>T, NW_003871093.1:g.41386C>A, NW_003871092.1:g.31084C>A, NM_001277331.1:c.347G>T, XM_003846481.1:c.347G>T, NM_001277332.1:c.332G>T, NP_001264260.1:p.Cys116Phe

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