SNP Links for Protein (Select 289547611) - SNP

Links from Protein

Items: 1 to 20 of 563

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Select item 14880810301.

rs1488081030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:9380669 (GRCh38)
19:9491345 (GRCh37)
Canonical SPDI:: NC_000019.10:9380668:C:A
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.9380669C>A, NC_000019.9:g.9491345C>A, NM_001172651.2:c.338C>A, NM_001172651.1:c.338C>A, NM_001384659.1:c.338C>A, NM_001202425.1:c.*54C>A, NP_001166122.1:p.Ala113Glu, NP_001371588.1:p.Ala113Glu

Select item 14879766432.

rs1487976643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:9379019 (GRCh38)
19:9489695 (GRCh37)
Canonical SPDI:: NC_000019.10:9379018:C:T
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.9379019C>T, NC_000019.9:g.9489695C>T, NM_001172650.3:c.91C>T, NM_001172650.2:c.91C>T, NM_003451.3:c.91C>T, NM_003451.2:c.91C>T, NM_001172651.2:c.91C>T, NM_001172651.1:c.91C>T, NM_001384659.1:c.91C>T, NM_001202425.1:c.91C>T, NM_001384658.1:c.91C>T

Select item 14849402293.

rs1484940229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:9380915 (GRCh38)
19:9491591 (GRCh37)
Canonical SPDI:: NC_000019.10:9380914:T:C
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_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_000019.10:g.9380915T>C, NC_000019.9:g.9491591T>C, NM_001172651.2:c.584T>C, NM_001172651.1:c.584T>C, NM_001384659.1:c.584T>C, NM_001202425.1:c.*300T>C, NP_001166122.1:p.Leu195Ser, NP_001371588.1:p.Leu195Ser

Select item 14792907134.

rs1479290713 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:9381561 (GRCh38)
19:9492237 (GRCh37)
Canonical SPDI:: NC_000019.10:9381560:C:A,NC_000019.10:9381560:C:T
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.9381561C>A, NC_000019.10:g.9381561C>T, NC_000019.9:g.9492237C>A, NC_000019.9:g.9492237C>T, NM_001172650.3:c.750C>A, NM_001172650.3:c.750C>T, NM_001172650.2:c.750C>A, NM_001172650.2:c.750C>T, NM_003451.3:c.750C>A, NM_003451.3:c.750C>T, NM_003451.2:c.750C>A, NM_003451.2:c.750C>T, NM_001172651.2:c.1230C>A, NM_001172651.2:c.1230C>T, NM_001172651.1:c.1230C>A, NM_001172651.1:c.1230C>T, NM_001384659.1:c.1230C>A, NM_001384659.1:c.1230C>T, NM_001202425.1:c.*946C>A, NM_001202425.1:c.*946C>T, NM_001384658.1:c.750C>A, NM_001384658.1:c.750C>T, NP_001166121.1:p.Tyr250Ter, NP_003442.2:p.Tyr250Ter, NP_001166122.1:p.Tyr410Ter, NP_001371588.1:p.Tyr410Ter, NP_001371587.1:p.Tyr250Ter

Select item 14766367615.

rs1476636761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:9381046 (GRCh38)
19:9491722 (GRCh37)
Canonical SPDI:: NC_000019.10:9381045:A:G
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_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_000019.10:g.9381046A>G, NC_000019.9:g.9491722A>G, NM_001172651.2:c.715A>G, NM_001172651.1:c.715A>G, NM_001384659.1:c.715A>G, NM_001202425.1:c.*431A>G, NP_001166122.1:p.Lys239Glu, NP_001371588.1:p.Lys239Glu

Select item 14743172726.

rs1474317272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:9381304 (GRCh38)
19:9491980 (GRCh37)
Canonical SPDI:: NC_000019.10:9381303:T:A
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9381304T>A, NC_000019.9:g.9491980T>A, NM_001172650.3:c.493T>A, NM_001172650.2:c.493T>A, NM_003451.3:c.493T>A, NM_003451.2:c.493T>A, NM_001172651.2:c.973T>A, NM_001172651.1:c.973T>A, NM_001384659.1:c.973T>A, NM_001202425.1:c.*689T>A, NM_001384658.1:c.493T>A, NP_001166121.1:p.Ser165Thr, NP_003442.2:p.Ser165Thr, NP_001166122.1:p.Ser325Thr, NP_001371588.1:p.Ser325Thr, NP_001371587.1:p.Ser165Thr

Select item 14739255637.

rs1473925563 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:9380986 (GRCh38)
19:9491662 (GRCh37)
Canonical SPDI:: NC_000019.10:9380985:T:C
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.9380986T>C, NC_000019.9:g.9491662T>C, NM_001172651.2:c.655T>C, NM_001172651.1:c.655T>C, NM_001384659.1:c.655T>C, NM_001202425.1:c.*371T>C, NP_001166122.1:p.Cys219Arg, NP_001371588.1:p.Cys219Arg

Select item 14696318288.

rs1469631828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:9380756 (GRCh38)
19:9491432 (GRCh37)
Canonical SPDI:: NC_000019.10:9380755:G:A
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.9380756G>A, NC_000019.9:g.9491432G>A, NM_001172651.2:c.425G>A, NM_001172651.1:c.425G>A, NM_001384659.1:c.425G>A, NM_001202425.1:c.*141G>A, NP_001166122.1:p.Cys142Tyr, NP_001371588.1:p.Cys142Tyr

Select item 14692883409.

rs1469288340 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:9381492 (GRCh38)
19:9492168 (GRCh37)
Canonical SPDI:: NC_000019.10:9381485:ACACACAC:ACACAC
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACAC=0.000054/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.9381486AC[3], NC_000019.9:g.9492162AC[3], NM_001172650.3:c.681_682del, NM_001172650.2:c.681_682del, NM_003451.3:c.681_682del, NM_003451.2:c.681_682del, NM_001172651.2:c.1161_1162del, NM_001172651.1:c.1161_1162del, NM_001384659.1:c.1161_1162del, NM_001202425.1:c.*871AC[3], NM_001384658.1:c.681_682del, NP_001166121.1:p.Arg228fs, NP_003442.2:p.Arg228fs, NP_001166122.1:p.Arg388fs, NP_001371588.1:p.Arg388fs, NP_001371587.1:p.Arg228fs

Select item 146903812210.

rs1469038122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:9380109 (GRCh38)
19:9490785 (GRCh37)
Canonical SPDI:: NC_000019.10:9380108:T:A,NC_000019.10:9380108:T:C
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.9380109T>A, NC_000019.10:g.9380109T>C, NC_000019.9:g.9490785T>A, NC_000019.9:g.9490785T>C, NM_001172650.3:c.306T>A, NM_001172650.3:c.306T>C, NM_001172650.2:c.306T>A, NM_001172650.2:c.306T>C, NM_003451.3:c.306T>A, NM_003451.3:c.306T>C, NM_003451.2:c.306T>A, NM_003451.2:c.306T>C, NM_001172651.2:c.306T>A, NM_001172651.2:c.306T>C, NM_001172651.1:c.306T>A, NM_001172651.1:c.306T>C, NM_001384659.1:c.306T>A, NM_001384659.1:c.306T>C, NM_001202425.1:c.306T>A, NM_001202425.1:c.306T>C, NM_001384658.1:c.306T>A, NM_001384658.1:c.306T>C

Select item 146860713511.

rs1468607135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:9381137 (GRCh38)
19:9491813 (GRCh37)
Canonical SPDI:: NC_000019.10:9381136:T:A
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: stop_gained,3_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9381137T>A, NC_000019.9:g.9491813T>A, NM_001172651.2:c.806T>A, NM_001172651.1:c.806T>A, NM_001384659.1:c.806T>A, NM_001202425.1:c.*522T>A, NP_001166122.1:p.Leu269Ter, NP_001371588.1:p.Leu269Ter

Select item 146753202612.

rs1467532026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:9380860 (GRCh38)
19:9491536 (GRCh37)
Canonical SPDI:: NC_000019.10:9380859:G:A,NC_000019.10:9380859:G:T
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,stop_gained,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000015/2 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.9380860G>A, NC_000019.10:g.9380860G>T, NC_000019.9:g.9491536G>A, NC_000019.9:g.9491536G>T, NM_001172651.2:c.529G>A, NM_001172651.2:c.529G>T, NM_001172651.1:c.529G>A, NM_001172651.1:c.529G>T, NM_001384659.1:c.529G>A, NM_001384659.1:c.529G>T, NM_001202425.1:c.*245G>A, NM_001202425.1:c.*245G>T, NP_001166122.1:p.Glu177Lys, NP_001166122.1:p.Glu177Ter, NP_001371588.1:p.Glu177Lys, NP_001371588.1:p.Glu177Ter

Select item 146601746113.

rs1466017461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:9381348 (GRCh38)
19:9492024 (GRCh37)
Canonical SPDI:: NC_000019.10:9381347:C:T
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,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_000019.10:g.9381348C>T, NC_000019.9:g.9492024C>T, NM_001172650.3:c.537C>T, NM_001172650.2:c.537C>T, NM_003451.3:c.537C>T, NM_003451.2:c.537C>T, NM_001172651.2:c.1017C>T, NM_001172651.1:c.1017C>T, NM_001384659.1:c.1017C>T, NM_001202425.1:c.*733C>T, NM_001384658.1:c.537C>T

Select item 146194010614.

rs1461940106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:9381112 (GRCh38)
19:9491788 (GRCh37)
Canonical SPDI:: NC_000019.10:9381111:C:T
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.9381112C>T, NC_000019.9:g.9491788C>T, NM_001172651.2:c.781C>T, NM_001172651.1:c.781C>T, NM_001384659.1:c.781C>T, NM_001202425.1:c.*497C>T, NP_001166122.1:p.His261Tyr, NP_001371588.1:p.His261Tyr

Select item 146153151215.

rs1461531512 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:9380805 (GRCh38)
19:9491481 (GRCh37)
Canonical SPDI:: NC_000019.10:9380804:CC:C
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.9380806del, NC_000019.9:g.9491482del, NM_001172651.2:c.475del, NM_001172651.1:c.475del, NM_001384659.1:c.475del, NM_001202425.1:c.*191del, NP_001166122.1:p.His159fs, NP_001371588.1:p.His159fs

Select item 145884593616.

rs1458845936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:9380967 (GRCh38)
19:9491643 (GRCh37)
Canonical SPDI:: NC_000019.10:9380966:C:T
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000019.10:g.9380967C>T, NC_000019.9:g.9491643C>T, NM_001172651.2:c.636C>T, NM_001172651.1:c.636C>T, NM_001384659.1:c.636C>T, NM_001202425.1:c.*352C>T

Select item 145807592917.

rs1458075929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:9380836 (GRCh38)
19:9491512 (GRCh37)
Canonical SPDI:: NC_000019.10:9380835:A:C
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9380836A>C, NC_000019.9:g.9491512A>C, NM_001172651.2:c.505A>C, NM_001172651.1:c.505A>C, NM_001384659.1:c.505A>C, NM_001202425.1:c.*221A>C, NP_001166122.1:p.Ile169Leu, NP_001371588.1:p.Ile169Leu

Select item 145674750118.

rs1456747501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:9380135 (GRCh38)
19:9490811 (GRCh37)
Canonical SPDI:: NC_000019.10:9380134:A:G
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9380135A>G, NC_000019.9:g.9490811A>G, NM_001172650.3:c.332A>G, NM_001172650.2:c.332A>G, NM_003451.3:c.332A>G, NM_003451.2:c.332A>G, NM_001172651.2:c.332A>G, NM_001172651.1:c.332A>G, NM_001384659.1:c.332A>G, NM_001202425.1:c.332A>G, NM_001384658.1:c.332A>G, NP_001166121.1:p.Asn111Ser, NP_003442.2:p.Asn111Ser, NP_001166122.1:p.Asn111Ser, NP_001371588.1:p.Asn111Ser, NP_001189354.1:p.Asn111Ser, NP_001371587.1:p.Asn111Ser

Select item 145324232519.

rs1453242325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:9381717 (GRCh38)
19:9492393 (GRCh37)
Canonical SPDI:: NC_000019.10:9381716:C:T
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9381717C>T, NC_000019.9:g.9492393C>T, NM_001172650.3:c.906C>T, NM_001172650.2:c.906C>T, NM_003451.3:c.906C>T, NM_003451.2:c.906C>T, NM_001172651.2:c.1386C>T, NM_001172651.1:c.1386C>T, NM_001384659.1:c.1386C>T, NM_001202425.1:c.*1102C>T, NM_001384658.1:c.906C>T

Select item 145178591620.

rs1451785916 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:9381107 (GRCh38)
19:9491784 (GRCh37)
Canonical SPDI:: NC_000019.10:9381107:T:TT
Gene:: ZNF177 (Varview), ZNF559-ZNF177 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.9381108dup, NC_000019.9:g.9491784dup, NM_001172651.2:c.777dup, NM_001172651.1:c.777dup, NM_001384659.1:c.777dup, NM_001202425.1:c.*493dup, NP_001166122.1:p.Glu260Ter, NP_001371588.1:p.Glu260Ter

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