SNP Links for Protein (Select 51036594) - SNP

Links from Protein

Items: 1 to 20 of 263

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Select item 14909295701.

rs1490929570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7353066 (GRCh38)
17:7256385 (GRCh37)
Canonical SPDI:: NC_000017.11:7353065:C:A
Gene:: KCTD11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7353066C>A, NC_000017.10:g.7256385C>A, NW_021160020.1:g.111431C>A, NM_001002914.3:c.124C>A, NM_001002914.2:c.124C>A, NM_001363642.1:c.241C>A, NP_001002914.1:p.Leu42Met

Select item 14890015912.

rs1489001591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7353608 (GRCh38)
17:7256927 (GRCh37)
Canonical SPDI:: NC_000017.11:7353607:C:G
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7353608C>G, NC_000017.10:g.7256927C>G, NW_021160020.1:g.111973C>G, NM_001002914.3:c.666C>G, NM_001002914.2:c.666C>G, NM_001363642.1:c.783C>G

Select item 14834978303.

rs1483497830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7353090 (GRCh38)
17:7256409 (GRCh37)
Canonical SPDI:: NC_000017.11:7353089:G:A
Gene:: KCTD11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7353090G>A, NC_000017.10:g.7256409G>A, NW_021160020.1:g.111455G>A, NM_001002914.3:c.148G>A, NM_001002914.2:c.148G>A, NM_001363642.1:c.265G>A, NP_001002914.1:p.Gly50Arg

Select item 14793384894.

rs1479338489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:7353318 (GRCh38)
17:7256637 (GRCh37)
Canonical SPDI:: NC_000017.11:7353317:C:A,NC_000017.11:7353317:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7353318C>A, NC_000017.11:g.7353318C>T, NC_000017.10:g.7256637C>A, NC_000017.10:g.7256637C>T, NW_021160020.1:g.111683C>A, NW_021160020.1:g.111683C>T, NM_001002914.3:c.376C>A, NM_001002914.3:c.376C>T, NM_001002914.2:c.376C>A, NM_001002914.2:c.376C>T, NM_001363642.1:c.493C>A, NM_001363642.1:c.493C>T, NP_001002914.1:p.Leu126Ile, NP_001002914.1:p.Leu126Phe

Select item 14774867675.

rs1477486767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7353387 (GRCh38)
17:7256706 (GRCh37)
Canonical SPDI:: NC_000017.11:7353386:G:A
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7353387G>A, NC_000017.10:g.7256706G>A, NW_021160020.1:g.111752G>A, NM_001002914.3:c.445G>A, NM_001002914.2:c.445G>A, NM_001363642.1:c.562G>A, NP_001002914.1:p.Ala149Thr

Select item 14724948546.

rs1472494854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7353162 (GRCh38)
17:7256481 (GRCh37)
Canonical SPDI:: NC_000017.11:7353161:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.7353162C>T, NC_000017.10:g.7256481C>T, NW_021160020.1:g.111527C>T, NM_001002914.3:c.220C>T, NM_001002914.2:c.220C>T, NM_001363642.1:c.337C>T, NP_001002914.1:p.Arg74Trp

Select item 14669630487.

rs1466963048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7353205 (GRCh38)
17:7256524 (GRCh37)
Canonical SPDI:: NC_000017.11:7353204:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7353205C>T, NC_000017.10:g.7256524C>T, NW_021160020.1:g.111570C>T, NM_001002914.3:c.263C>T, NM_001002914.2:c.263C>T, NM_001363642.1:c.380C>T, NP_001002914.1:p.Ala88Val

Select item 14547060208.

rs1454706020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7353555 (GRCh38)
17:7256874 (GRCh37)
Canonical SPDI:: NC_000017.11:7353554:C:G
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.00001/2 (GnomAD_exomes)
G=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.7353555C>G, NC_000017.10:g.7256874C>G, NW_021160020.1:g.111920C>G, NM_001002914.3:c.613C>G, NM_001002914.2:c.613C>G, NM_001363642.1:c.730C>G, NP_001002914.1:p.Leu205Val

Select item 14546665649.

rs1454666564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:7353563 (GRCh38)
17:7256882 (GRCh37)
Canonical SPDI:: NC_000017.11:7353562:C:A,NC_000017.11:7353562:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,missense_variant,2KB_upstream_variant,coding_sequence_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.7353563C>A, NC_000017.11:g.7353563C>T, NC_000017.10:g.7256882C>A, NC_000017.10:g.7256882C>T, NW_021160020.1:g.111928C>A, NW_021160020.1:g.111928C>T, NM_001002914.3:c.621C>A, NM_001002914.3:c.621C>T, NM_001002914.2:c.621C>A, NM_001002914.2:c.621C>T, NM_001363642.1:c.738C>A, NM_001363642.1:c.738C>T, NP_001002914.1:p.His207Gln

Select item 144514453710.

rs1445144537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7353190 (GRCh38)
17:7256509 (GRCh37)
Canonical SPDI:: NC_000017.11:7353189:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.7353190C>T, NC_000017.10:g.7256509C>T, NW_021160020.1:g.111555C>T, NM_001002914.3:c.248C>T, NM_001002914.2:c.248C>T, NM_001363642.1:c.365C>T, NP_001002914.1:p.Pro83Leu

Select item 144469706911.

rs1444697069 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:7352948 (GRCh38)
17:7256267 (GRCh37)
Canonical SPDI:: NC_000017.11:7352947:GGGGG:GGGG
Gene:: KCTD11 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7352952del, NC_000017.10:g.7256271del, NW_021160020.1:g.111317del, NM_001002914.3:c.10del, NM_001002914.2:c.10del, NM_001363642.1:c.127del, NP_001002914.1:p.Ala4fs

Select item 143610538212.

rs1436105382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7353026 (GRCh38)
17:7256345 (GRCh37)
Canonical SPDI:: NC_000017.11:7353025:G:A
Gene:: KCTD11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7353026G>A, NC_000017.10:g.7256345G>A, NW_021160020.1:g.111391G>A, NM_001002914.3:c.84G>A, NM_001002914.2:c.84G>A, NM_001363642.1:c.201G>A

Select item 143357130013.

rs1433571300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7353484 (GRCh38)
17:7256803 (GRCh37)
Canonical SPDI:: NC_000017.11:7353483:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7353484C>T, NC_000017.10:g.7256803C>T, NW_021160020.1:g.111849C>T, NM_001002914.3:c.542C>T, NM_001002914.2:c.542C>T, NM_001363642.1:c.659C>T, NP_001002914.1:p.Thr181Ile

Select item 142993686114.

rs1429936861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7353334 (GRCh38)
17:7256653 (GRCh37)
Canonical SPDI:: NC_000017.11:7353333:C:G
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7353334C>G, NC_000017.10:g.7256653C>G, NW_021160020.1:g.111699C>G, NM_001002914.3:c.392C>G, NM_001002914.2:c.392C>G, NM_001363642.1:c.509C>G, NP_001002914.1:p.Ser131Cys

Select item 142787409715.

rs1427874097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7353623 (GRCh38)
17:7256942 (GRCh37)
Canonical SPDI:: NC_000017.11:7353622:G:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7353623G>T, NC_000017.10:g.7256942G>T, NW_021160020.1:g.111988G>T, NM_001002914.3:c.681G>T, NM_001002914.2:c.681G>T, NM_001363642.1:c.798G>T

Select item 142357224316.

rs1423572243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:7353018 (GRCh38)
17:7256337 (GRCh37)
Canonical SPDI:: NC_000017.11:7353017:A:T
Gene:: KCTD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7353018A>T, NC_000017.10:g.7256337A>T, NW_021160020.1:g.111383A>T, NM_001002914.3:c.76A>T, NM_001002914.2:c.76A>T, NM_001363642.1:c.193A>T, NP_001002914.1:p.Ile26Phe

Select item 142309645417.

rs1423096454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7353408 (GRCh38)
17:7256727 (GRCh37)
Canonical SPDI:: NC_000017.11:7353407:C:T
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7353408C>T, NC_000017.10:g.7256727C>T, NW_021160020.1:g.111773C>T, NM_001002914.3:c.466C>T, NM_001002914.2:c.466C>T, NM_001363642.1:c.583C>T, NP_001002914.1:p.His156Tyr

Select item 142025008918.

rs1420250089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:7353087 (GRCh38)
17:7256406 (GRCh37)
Canonical SPDI:: NC_000017.11:7353086:C:G,NC_000017.11:7353086:C:T
Gene:: KCTD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7353087C>G, NC_000017.11:g.7353087C>T, NC_000017.10:g.7256406C>G, NC_000017.10:g.7256406C>T, NW_021160020.1:g.111452C>G, NW_021160020.1:g.111452C>T, NM_001002914.3:c.145C>G, NM_001002914.3:c.145C>T, NM_001002914.2:c.145C>G, NM_001002914.2:c.145C>T, NM_001363642.1:c.262C>G, NM_001363642.1:c.262C>T, NP_001002914.1:p.Arg49Gly, NP_001002914.1:p.Arg49Cys

Select item 141884236119.

rs1418842361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7353549 (GRCh38)
17:7256868 (GRCh37)
Canonical SPDI:: NC_000017.11:7353548:G:A
Gene:: KCTD11 (Varview), TMEM95 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000017.11:g.7353549G>A, NC_000017.10:g.7256868G>A, NW_021160020.1:g.111914G>A, NM_001002914.3:c.607G>A, NM_001002914.2:c.607G>A, NM_001363642.1:c.724G>A, NP_001002914.1:p.Val203Met

Select item 141323603420.

rs1413236034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7353144 (GRCh38)
17:7256463 (GRCh37)
Canonical SPDI:: NC_000017.11:7353143:C:T
Gene:: KCTD11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7353144C>T, NC_000017.10:g.7256463C>T, NW_021160020.1:g.111509C>T, NM_001002914.3:c.202C>T, NM_001002914.2:c.202C>T, NM_001363642.1:c.319C>T, NP_001002914.1:p.Pro68Ser

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