SNP Links for Protein (Select 110611243) - SNP

Links from Protein

Items: 1 to 20 of 598

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Select item 14907093491.

rs1490709349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62709832 (GRCh38)
20:61341184 (GRCh37)
Canonical SPDI:: NC_000020.11:62709831:G:A
Gene:: NTSR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.62709832G>A, NC_000020.10:g.61341184G>A, NM_002531.3:c.625G>A, NM_002531.2:c.625G>A, NP_002522.2:p.Glu209Lys

Select item 14874111132.

rs1487411113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:62709376 (GRCh38)
20:61340728 (GRCh37)
Canonical SPDI:: NC_000020.11:62709375:A:G
Gene:: NTSR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.62709376A>G, NC_000020.10:g.61340728A>G, NM_002531.3:c.169A>G, NM_002531.2:c.169A>G, NP_002522.2:p.Asn57Asp

Select item 14871469033.

rs1487146903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62709486 (GRCh38)
20:61340838 (GRCh37)
Canonical SPDI:: NC_000020.11:62709485:G:C
Gene:: NTSR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.62709486G>C, NC_000020.10:g.61340838G>C, NM_002531.3:c.279G>C, NM_002531.2:c.279G>C

Select item 14858504594.

rs1485850459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:62758354 (GRCh38)
20:61389706 (GRCh37)
Canonical SPDI:: NC_000020.11:62758353:T:C
Gene:: NTSR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62758354T>C, NC_000020.10:g.61389706T>C, NM_002531.3:c.1005T>C, NM_002531.2:c.1005T>C

Select item 14851177115.

rs1485117711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:62709537 (GRCh38)
20:61340889 (GRCh37)
Canonical SPDI:: NC_000020.11:62709536:G:C
Gene:: NTSR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.62709537G>C, NC_000020.10:g.61340889G>C, NM_002531.3:c.330G>C, NM_002531.2:c.330G>C

Select item 14808282876.

rs1480828287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62709494 (GRCh38)
20:61340846 (GRCh37)
Canonical SPDI:: NC_000020.11:62709493:G:A
Gene:: NTSR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000020.11:g.62709494G>A, NC_000020.10:g.61340846G>A, NM_002531.3:c.287G>A, NM_002531.2:c.287G>A, NP_002522.2:p.Ser96Asn

Select item 14795621157.

rs1479562115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62760139 (GRCh38)
20:61391491 (GRCh37)
Canonical SPDI:: NC_000020.11:62760138:G:A
Gene:: NTSR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.62760139G>A, NC_000020.10:g.61391491G>A, NM_002531.3:c.1129G>A, NM_002531.2:c.1129G>A, NP_002522.2:p.Ala377Thr

Select item 14789229198.

rs1478922919 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:62760026 (GRCh38)
20:61391378 (GRCh37)
Canonical SPDI:: NC_000020.11:62760024:TAT:T
Gene:: NTSR1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.62760026_62760027del, NC_000020.10:g.61391378_61391379del, NM_002531.3:c.1016_1017del, NM_002531.2:c.1016_1017del, NP_002522.2:p.Leu338_Tyr339insTer

Select item 14788699939.

rs1478869993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62754778 (GRCh38)
20:61386130 (GRCh37)
Canonical SPDI:: NC_000020.11:62754777:G:A
Gene:: NTSR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000064/17 (TOPMED)
HGVS:: NC_000020.11:g.62754778G>A, NC_000020.10:g.61386130G>A, NM_002531.3:c.808G>A, NM_002531.2:c.808G>A, NP_002522.2:p.Ala270Thr

Select item 147113709010.

rs1471137090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62709708 (GRCh38)
20:61341060 (GRCh37)
Canonical SPDI:: NC_000020.11:62709707:C:T
Gene:: NTSR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.62709708C>T, NC_000020.10:g.61341060C>T, NM_002531.3:c.501C>T, NM_002531.2:c.501C>T

Select item 147100965311.

rs1471009653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62709605 (GRCh38)
20:61340957 (GRCh37)
Canonical SPDI:: NC_000020.11:62709604:C:T
Gene:: NTSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.62709605C>T, NC_000020.10:g.61340957C>T, NM_002531.3:c.398C>T, NM_002531.2:c.398C>T, NP_002522.2:p.Pro133Leu

Select item 147075748612.

rs1470757486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:62709239 (GRCh38)
20:61340591 (GRCh37)
Canonical SPDI:: NC_000020.11:62709238:C:G,NC_000020.11:62709238:C:T
Gene:: NTSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000020.11:g.62709239C>G, NC_000020.11:g.62709239C>T, NC_000020.10:g.61340591C>G, NC_000020.10:g.61340591C>T, NM_002531.3:c.32C>G, NM_002531.3:c.32C>T, NM_002531.2:c.32C>G, NM_002531.2:c.32C>T, NP_002522.2:p.Pro11Arg, NP_002522.2:p.Pro11Leu

Select item 146726906213.

rs1467269062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:62709315 (GRCh38)
20:61340667 (GRCh37)
Canonical SPDI:: NC_000020.11:62709314:C:T
Gene:: NTSR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000020.11:g.62709315C>T, NC_000020.10:g.61340667C>T, NM_002531.3:c.108C>T, NM_002531.2:c.108C>T

Select item 146673381314.

rs1466733813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:62709450 (GRCh38)
20:61340802 (GRCh37)
Canonical SPDI:: NC_000020.11:62709449:C:G
Gene:: NTSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.62709450C>G, NC_000020.10:g.61340802C>G, NM_002531.3:c.243C>G, NM_002531.2:c.243C>G, NP_002522.2:p.Asn81Lys

Select item 146425451315.

rs1464254513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:62709258 (GRCh38)
20:61340610 (GRCh37)
Canonical SPDI:: NC_000020.11:62709257:C:A,NC_000020.11:62709257:C:T
Gene:: NTSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000020.11:g.62709258C>A, NC_000020.11:g.62709258C>T, NC_000020.10:g.61340610C>A, NC_000020.10:g.61340610C>T, NM_002531.3:c.51C>A, NM_002531.3:c.51C>T, NM_002531.2:c.51C>A, NM_002531.2:c.51C>T, NP_002522.2:p.Asp17Glu

Select item 146380537316.

rs1463805373 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:62709474 (GRCh38)
20:61340826 (GRCh37)
Canonical SPDI:: NC_000020.11:62709473:G:A,NC_000020.11:62709473:G:T
Gene:: NTSR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00003/1 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000020.11:g.62709474G>A, NC_000020.11:g.62709474G>T, NC_000020.10:g.61340826G>A, NC_000020.10:g.61340826G>T, NM_002531.3:c.267G>A, NM_002531.3:c.267G>T, NM_002531.2:c.267G>A, NM_002531.2:c.267G>T

Select item 146215001917.

rs1462150019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62754834 (GRCh38)
20:61386186 (GRCh37)
Canonical SPDI:: NC_000020.11:62754833:G:A
Gene:: NTSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.62754834G>A, NC_000020.10:g.61386186G>A, NM_002531.3:c.864G>A, NM_002531.2:c.864G>A, NP_002522.2:p.Met288Ile

Select item 146163832918.

rs1461638329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62709650 (GRCh38)
20:61341002 (GRCh37)
Canonical SPDI:: NC_000020.11:62709649:G:A
Gene:: NTSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.62709650G>A, NC_000020.10:g.61341002G>A, NM_002531.3:c.443G>A, NM_002531.2:c.443G>A, NP_002522.2:p.Arg148His

Select item 146117473619.

rs1461174736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:62709881 (GRCh38)
20:61341233 (GRCh37)
Canonical SPDI:: NC_000020.11:62709880:C:A
Gene:: NTSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/5 (GnomAD_exomes)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000020.11:g.62709881C>A, NC_000020.10:g.61341233C>A, NM_002531.3:c.674C>A, NM_002531.2:c.674C>A, NP_002522.2:p.Thr225Asn

Select item 145775583220.

rs1457755832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:62709339 (GRCh38)
20:61340691 (GRCh37)
Canonical SPDI:: NC_000020.11:62709338:G:A
Gene:: NTSR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.62709339G>A, NC_000020.10:g.61340691G>A, NM_002531.3:c.132G>A, NM_002531.2:c.132G>A

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