SNP Links for Protein (Select 157364939) - SNP

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Links from Protein

Items: 1 to 20 of 775

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Select item 14908350261.

rs1490835026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:93612895 (GRCh38)
10:95372652 (GRCh37)
Canonical SPDI:: NC_000010.11:93612894:A:G
Gene:: PDE6C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.93612895A>G, NC_000010.10:g.95372652A>G, NG_016752.1:g.5308A>G, NM_006204.4:c.170A>G, NM_006204.3:c.170A>G, NP_006195.3:p.Glu57Gly

Select item 14897989132.

rs1489798913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:93612866 (GRCh38)
10:95372623 (GRCh37)
Canonical SPDI:: NC_000010.11:93612865:C:T
Gene:: PDE6C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.93612866C>T, NC_000010.10:g.95372623C>T, NG_016752.1:g.5279C>T, NM_006204.4:c.141C>T, NM_006204.3:c.141C>T

Select item 14873107053.

rs1487310705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:93655792 (GRCh38)
10:95415549 (GRCh37)
Canonical SPDI:: NC_000010.11:93655791:G:A
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.93655792G>A, NC_000010.10:g.95415549G>A, NG_016752.1:g.48205G>A, NM_006204.4:c.1968G>A, NM_006204.3:c.1968G>A

Select item 14872793314.

rs1487279331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:93663072 (GRCh38)
10:95422829 (GRCh37)
Canonical SPDI:: NC_000010.11:93663071:T:A
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.93663072T>A, NC_000010.10:g.95422829T>A, NG_016752.1:g.55485T>A, NM_006204.4:c.2412T>A, NM_006204.3:c.2412T>A

Select item 14870909175.

rs1487090917 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:93626687 (GRCh38)
10:95386444 (GRCh37)
Canonical SPDI:: NC_000010.11:93626686:A:G
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.93626687A>G, NC_000010.10:g.95386444A>G, NG_016752.1:g.19100A>G, NM_006204.4:c.987A>G, NM_006204.3:c.987A>G

Select item 14856597306.

rs1485659730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:93622021 (GRCh38)
10:95381778 (GRCh37)
Canonical SPDI:: NC_000010.11:93622020:T:C
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.93622021T>C, NC_000010.10:g.95381778T>C, NG_016752.1:g.14434T>C, NM_006204.4:c.813T>C, NM_006204.3:c.813T>C

Select item 14846181027.

rs1484618102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:93659154 (GRCh38)
10:95418911 (GRCh37)
Canonical SPDI:: NC_000010.11:93659153:A:G
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.93659154A>G, NC_000010.10:g.95418911A>G, NG_016752.1:g.51567A>G, NM_006204.4:c.2195A>G, NM_006204.3:c.2195A>G, NP_006195.3:p.Glu732Gly

Select item 14843462288.

rs1484346228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:93659003 (GRCh38)
10:95418760 (GRCh37)
Canonical SPDI:: NC_000010.11:93659002:T:G
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.93659003T>G, NC_000010.10:g.95418760T>G, NG_016752.1:g.51416T>G, NM_006204.4:c.2139T>G, NM_006204.3:c.2139T>G, NP_006195.3:p.Ile713Met

Select item 14839064709.

rs1483906470 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:93663093 (GRCh38)
10:95422850 (GRCh37)
Canonical SPDI:: NC_000010.11:93663092:A:C
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.93663093A>C, NC_000010.10:g.95422850A>C, NG_016752.1:g.55506A>C, NM_006204.4:c.2433A>C, NM_006204.3:c.2433A>C, NP_006195.3:p.Glu811Asp

Select item 148360009210.

rs1483600092 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:93659008 (GRCh38)
10:95418765 (GRCh37)
Canonical SPDI:: NC_000010.11:93659007:T:C
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.93659008T>C, NC_000010.10:g.95418765T>C, NG_016752.1:g.51421T>C, NM_006204.4:c.2144T>C, NM_006204.3:c.2144T>C, NP_006195.3:p.Met715Thr

Select item 148325284711.

rs1483252847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:93625618 (GRCh38)
10:95385375 (GRCh37)
Canonical SPDI:: NC_000010.11:93625617:C:G
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.93625618C>G, NC_000010.10:g.95385375C>G, NG_016752.1:g.18031C>G, NM_006204.4:c.908C>G, NM_006204.3:c.908C>G, NP_006195.3:p.Pro303Arg

Select item 148225714812.

rs1482257148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:93613003 (GRCh38)
10:95372760 (GRCh37)
Canonical SPDI:: NC_000010.11:93613002:C:T
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.93613003C>T, NC_000010.10:g.95372760C>T, NG_016752.1:g.5416C>T, NM_006204.4:c.278C>T, NM_006204.3:c.278C>T, NP_006195.3:p.Ala93Val

Select item 148093348813.

rs1480933488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:93620980 (GRCh38)
10:95380737 (GRCh37)
Canonical SPDI:: NC_000010.11:93620979:G:A
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000010.11:g.93620980G>A, NC_000010.10:g.95380737G>A, NG_016752.1:g.13393G>A, NM_006204.4:c.723G>A, NM_006204.3:c.723G>A

Select item 148000263914.

rs1480002639 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:93663087 (GRCh38)
10:95422844 (GRCh37)
Canonical SPDI:: NC_000010.11:93663084:AGAG:AG
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
HGVS:: NC_000010.11:g.93663085AG[1], NC_000010.10:g.95422842AG[1], NG_016752.1:g.55498AG[1], NM_006204.4:c.2427_2428del, NM_006204.3:c.2427_2428del, NP_006195.3:p.Arg809fs

Select item 147884763715.

rs1478847637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:93620707 (GRCh38)
10:95380464 (GRCh37)
Canonical SPDI:: NC_000010.11:93620706:G:C
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.93620707G>C, NC_000010.10:g.95380464G>C, NG_016752.1:g.13120G>C, NM_006204.4:c.556G>C, NM_006204.3:c.556G>C, NP_006195.3:p.Val186Leu

Select item 147761110216.

rs1477611102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:93613012 (GRCh38)
10:95372769 (GRCh37)
Canonical SPDI:: NC_000010.11:93613011:G:A
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.93613012G>A, NC_000010.10:g.95372769G>A, NG_016752.1:g.5425G>A, NM_006204.4:c.287G>A, NM_006204.3:c.287G>A, NP_006195.3:p.Cys96Tyr

Select item 147760488917.

rs1477604889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:93634802 (GRCh38)
10:95394559 (GRCh37)
Canonical SPDI:: NC_000010.11:93634801:G:A
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.93634802G>A, NC_000010.10:g.95394559G>A, NG_016752.1:g.27215G>A, NM_006204.4:c.1164G>A, NM_006204.3:c.1164G>A

Select item 147645282018.

rs1476452820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:93641004 (GRCh38)
10:95400761 (GRCh37)
Canonical SPDI:: NC_000010.11:93641003:G:A
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.93641004G>A, NC_000010.10:g.95400761G>A, NG_016752.1:g.33417G>A, NM_006204.4:c.1822G>A, NM_006204.3:c.1822G>A, NP_006195.3:p.Gly608Ser

Select item 147588962519.

rs1475889625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:93640512 (GRCh38)
10:95400269 (GRCh37)
Canonical SPDI:: NC_000010.11:93640511:G:A
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.93640512G>A, NC_000010.10:g.95400269G>A, NG_016752.1:g.32925G>A, NM_006204.4:c.1692G>A, NM_006204.3:c.1692G>A, NP_006195.3:p.Trp564Ter

Select item 147585764320.

rs1475857643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:93612939 (GRCh38)
10:95372696 (GRCh37)
Canonical SPDI:: NC_000010.11:93612938:G:C
Gene:: PDE6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.93612939G>C, NC_000010.10:g.95372696G>C, NG_016752.1:g.5352G>C, NM_006204.4:c.214G>C, NM_006204.3:c.214G>C, NP_006195.3:p.Glu72Gln

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