SNP Links for Protein (Select 343183350) - SNP

Links from Protein

Items: 1 to 20 of 361

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Select item 14907872191.

rs1490787219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:23702456 (GRCh38)
8:23559969 (GRCh37)
Canonical SPDI:: NC_000008.11:23702455:A:G
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000008.11:g.23702456A>G, NC_000008.10:g.23559969A>G, NG_030636.1:g.9143T>C, NM_001136271.3:c.901T>C, NM_001136271.2:c.901T>C, NP_001129743.2:p.Trp301Arg

Select item 14899706902.

rs1489970690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:23702763 (GRCh38)
8:23560276 (GRCh37)
Canonical SPDI:: NC_000008.11:23702762:C:T
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.23702763C>T, NC_000008.10:g.23560276C>T, NG_030636.1:g.8836G>A, NM_001136271.3:c.594G>A, NM_001136271.2:c.594G>A

Select item 14898809683.

rs1489880968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:23702717 (GRCh38)
8:23560230 (GRCh37)
Canonical SPDI:: NC_000008.11:23702716:C:A,NC_000008.11:23702716:C:T
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.23702717C>A, NC_000008.11:g.23702717C>T, NC_000008.10:g.23560230C>A, NC_000008.10:g.23560230C>T, NG_030636.1:g.8882G>T, NG_030636.1:g.8882G>A, NM_001136271.3:c.640G>T, NM_001136271.3:c.640G>A, NM_001136271.2:c.640G>T, NM_001136271.2:c.640G>A, NP_001129743.2:p.Val214Leu, NP_001129743.2:p.Val214Met

Select item 14894495164.

rs1489449516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:23703020 (GRCh38)
8:23560533 (GRCh37)
Canonical SPDI:: NC_000008.11:23703019:C:A,NC_000008.11:23703019:C:T
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.23703020C>A, NC_000008.11:g.23703020C>T, NC_000008.10:g.23560533C>A, NC_000008.10:g.23560533C>T, NG_030636.1:g.8579G>T, NG_030636.1:g.8579G>A, NM_001136271.3:c.337G>T, NM_001136271.3:c.337G>A, NM_001136271.2:c.337G>T, NM_001136271.2:c.337G>A, NP_001129743.2:p.Gly113Cys, NP_001129743.2:p.Gly113Ser

Select item 14894443945.

rs1489444394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23706372 (GRCh38)
8:23563885 (GRCh37)
Canonical SPDI:: NC_000008.11:23706371:G:A
Gene:: NKX2-6 (Varview), LOC107986930 (Varview), LOC124901910 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,coding_sequence_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)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.23706372G>A, NC_000008.10:g.23563885G>A, NG_030636.1:g.5227C>T, NM_001136271.3:c.227C>T, NM_001136271.2:c.227C>T, NP_001129743.2:p.Pro76Leu

Select item 14797793776.

rs1479779377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23702660 (GRCh38)
8:23560173 (GRCh37)
Canonical SPDI:: NC_000008.11:23702659:G:A
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.23702660G>A, NC_000008.10:g.23560173G>A, NG_030636.1:g.8939C>T, NM_001136271.3:c.697C>T, NM_001136271.2:c.697C>T, NP_001129743.2:p.Pro233Ser

Select item 14797268427.

rs1479726842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:23706376 (GRCh38)
8:23563889 (GRCh37)
Canonical SPDI:: NC_000008.11:23706375:C:A
Gene:: NKX2-6 (Varview), LOC107986930 (Varview), LOC124901910 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000008.11:g.23706376C>A, NC_000008.10:g.23563889C>A, NG_030636.1:g.5223G>T, NM_001136271.3:c.223G>T, NM_001136271.2:c.223G>T, NP_001129743.2:p.Gly75Cys

Select item 14796396168.

rs1479639616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:23702467 (GRCh38)
8:23559980 (GRCh37)
Canonical SPDI:: NC_000008.11:23702466:C:T
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.23702467C>T, NC_000008.10:g.23559980C>T, NG_030636.1:g.9132G>A, NM_001136271.3:c.890G>A, NM_001136271.2:c.890G>A, NP_001129743.2:p.Gly297Asp

Select item 14796272639.

rs1479627263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:23702702 (GRCh38)
8:23560215 (GRCh37)
Canonical SPDI:: NC_000008.11:23702701:G:A,NC_000008.11:23702701:G:C,NC_000008.11:23702701:G:T
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000013/2 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000008.11:g.23702702G>A, NC_000008.11:g.23702702G>C, NC_000008.11:g.23702702G>T, NC_000008.10:g.23560215G>A, NC_000008.10:g.23560215G>C, NC_000008.10:g.23560215G>T, NG_030636.1:g.8897C>T, NG_030636.1:g.8897C>G, NG_030636.1:g.8897C>A, NM_001136271.3:c.655C>T, NM_001136271.3:c.655C>G, NM_001136271.3:c.655C>A, NM_001136271.2:c.655C>T, NM_001136271.2:c.655C>G, NM_001136271.2:c.655C>A, NP_001129743.2:p.Pro219Ser, NP_001129743.2:p.Pro219Ala, NP_001129743.2:p.Pro219Thr

Select item 147814605310.

rs1478146053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23702932 (GRCh38)
8:23560445 (GRCh37)
Canonical SPDI:: NC_000008.11:23702931:G:A
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.23702932G>A, NC_000008.10:g.23560445G>A, NG_030636.1:g.8667C>T, NM_001136271.3:c.425C>T, NM_001136271.2:c.425C>T, NP_001129743.2:p.Ala142Val

Select item 147749410511.

rs1477494105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:23706583 (GRCh38)
8:23564096 (GRCh37)
Canonical SPDI:: NC_000008.11:23706582:C:A,NC_000008.11:23706582:C:T
Gene:: NKX2-6 (Varview), LOC107986930 (Varview), LOC124901910 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000008.11:g.23706583C>A, NC_000008.11:g.23706583C>T, NC_000008.10:g.23564096C>A, NC_000008.10:g.23564096C>T, NG_030636.1:g.5016G>T, NG_030636.1:g.5016G>A, NM_001136271.3:c.16G>T, NM_001136271.3:c.16G>A, NM_001136271.2:c.16G>T, NM_001136271.2:c.16G>A, NP_001129743.2:p.Val6Phe, NP_001129743.2:p.Val6Ile

Select item 147660388412.

rs1476603884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:23702652 (GRCh38)
8:23560165 (GRCh37)
Canonical SPDI:: NC_000008.11:23702651:A:C
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.23702652A>C, NC_000008.10:g.23560165A>C, NG_030636.1:g.8947T>G, NM_001136271.3:c.705T>G, NM_001136271.2:c.705T>G, NP_001129743.2:p.Ser235Arg

Select item 147523482413.

rs1475234824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:23702704 (GRCh38)
8:23560217 (GRCh37)
Canonical SPDI:: NC_000008.11:23702703:T:C
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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_000008.11:g.23702704T>C, NC_000008.10:g.23560217T>C, NG_030636.1:g.8895A>G, NM_001136271.3:c.653A>G, NM_001136271.2:c.653A>G, NP_001129743.2:p.Lys218Arg

Select item 147452047614.

rs1474520476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:23706557 (GRCh38)
8:23564070 (GRCh37)
Canonical SPDI:: NC_000008.11:23706556:C:G
Gene:: NKX2-6 (Varview), LOC107986930 (Varview), LOC124901910 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,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_000008.11:g.23706557C>G, NC_000008.10:g.23564070C>G, NG_030636.1:g.5042G>C, NM_001136271.3:c.42G>C, NM_001136271.2:c.42G>C, NP_001129743.2:p.Lys14Asn

Select item 146914611415.

rs1469146114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23706470 (GRCh38)
8:23563983 (GRCh37)
Canonical SPDI:: NC_000008.11:23706469:G:A
Gene:: NKX2-6 (Varview), LOC107986930 (Varview), LOC124901910 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.23706470G>A, NC_000008.10:g.23563983G>A, NG_030636.1:g.5129C>T, NM_001136271.3:c.129C>T, NM_001136271.2:c.129C>T

Select item 146848262516.

rs1468482625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:23706558 (GRCh38)
8:23564071 (GRCh37)
Canonical SPDI:: NC_000008.11:23706557:T:C
Gene:: NKX2-6 (Varview), LOC107986930 (Varview), LOC124901910 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000008.11:g.23706558T>C, NC_000008.10:g.23564071T>C, NG_030636.1:g.5041A>G, NM_001136271.3:c.41A>G, NM_001136271.2:c.41A>G, NP_001129743.2:p.Lys14Arg

Select item 146772478117.

rs1467724781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:23702986 (GRCh38)
8:23560499 (GRCh37)
Canonical SPDI:: NC_000008.11:23702985:G:C
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000008.11:g.23702986G>C, NC_000008.10:g.23560499G>C, NG_030636.1:g.8613C>G, NM_001136271.3:c.371C>G, NM_001136271.2:c.371C>G, NP_001129743.2:p.Ser124Trp

Select item 146605593318.

rs1466055933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:23702887 (GRCh38)
8:23560400 (GRCh37)
Canonical SPDI:: NC_000008.11:23702886:A:G
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000008.11:g.23702887A>G, NC_000008.10:g.23560400A>G, NG_030636.1:g.8712T>C, NM_001136271.3:c.470T>C, NM_001136271.2:c.470T>C, NP_001129743.2:p.Leu157Pro

Select item 146136999519.

rs1461369995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23702637 (GRCh38)
8:23560150 (GRCh37)
Canonical SPDI:: NC_000008.11:23702636:G:A
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.23702637G>A, NC_000008.10:g.23560150G>A, NG_030636.1:g.8962C>T, NM_001136271.3:c.720C>T, NM_001136271.2:c.720C>T

Select item 146123664220.

rs1461236642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:23702879 (GRCh38)
8:23560392 (GRCh37)
Canonical SPDI:: NC_000008.11:23702878:G:A,NC_000008.11:23702878:G:T
Gene:: NKX2-6 (Varview), LOC107986930 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.23702879G>A, NC_000008.11:g.23702879G>T, NC_000008.10:g.23560392G>A, NC_000008.10:g.23560392G>T, NG_030636.1:g.8720C>T, NG_030636.1:g.8720C>A, NM_001136271.3:c.478C>T, NM_001136271.3:c.478C>A, NM_001136271.2:c.478C>T, NM_001136271.2:c.478C>A, NP_001129743.2:p.Pro160Ser, NP_001129743.2:p.Pro160Thr

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