SNP Links for Protein (Select 282396088) - SNP

Links from Protein

Items: 1 to 20 of 232

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Select item 14903866911.

rs1490386691 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:52692809 (GRCh38)
1:53158481 (GRCh37)
Canonical SPDI:: NC_000001.11:52692808:GG:G
Gene:: COA7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52692810del, NC_000001.10:g.53158482del, NM_023077.3:c.165del, NM_023077.2:c.165del, NP_075565.2:p.Lys56fs

Select item 14902228292.

rs1490222829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:52687950 (GRCh38)
1:53153622 (GRCh37)
Canonical SPDI:: NC_000001.11:52687949:T:C
Gene:: COA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.52687950T>C, NC_000001.10:g.53153622T>C, NM_023077.3:c.466A>G, NM_023077.2:c.466A>G, NP_075565.2:p.Met156Val

Select item 14884553973.

rs1488455397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52698318 (GRCh38)
1:53163990 (GRCh37)
Canonical SPDI:: NC_000001.11:52698317:G:A
Gene:: COA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000167/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52698318G>A, NC_000001.10:g.53163990G>A, NM_023077.3:c.9C>T, NM_023077.2:c.9C>T

Select item 14716494474.

rs1471649447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:52698268 (GRCh38)
1:53163940 (GRCh37)
Canonical SPDI:: NC_000001.11:52698267:A:G
Gene:: COA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52698268A>G, NC_000001.10:g.53163940A>G, NM_023077.3:c.59T>C, NM_023077.2:c.59T>C, NP_075565.2:p.Met20Thr

Select item 14658458215.

rs1465845821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:52698221 (GRCh38)
1:53163893 (GRCh37)
Canonical SPDI:: NC_000001.11:52698220:C:A
Gene:: COA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52698221C>A, NC_000001.10:g.53163893C>A, NM_023077.3:c.106G>T, NM_023077.2:c.106G>T, NP_075565.2:p.Gly36Cys

Select item 14634091166.

rs1463409116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:52692753 (GRCh38)
1:53158425 (GRCh37)
Canonical SPDI:: NC_000001.11:52692752:A:G
Gene:: COA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52692753A>G, NC_000001.10:g.53158425A>G, NM_023077.3:c.221T>C, NM_023077.2:c.221T>C, NP_075565.2:p.Leu74Pro

Select item 14629802117.

rs1462980211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:52688091 (GRCh38)
1:53153763 (GRCh37)
Canonical SPDI:: NC_000001.11:52688090:C:G
Gene:: COA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52688091C>G, NC_000001.10:g.53153763C>G, NM_023077.3:c.325G>C, NM_023077.2:c.325G>C, NP_075565.2:p.Ala109Pro

Select item 14623092478.

rs1462309247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:52687875 (GRCh38)
1:53153547 (GRCh37)
Canonical SPDI:: NC_000001.11:52687874:G:A,NC_000001.11:52687874:G:C
Gene:: COA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52687875G>A, NC_000001.11:g.52687875G>C, NC_000001.10:g.53153547G>A, NC_000001.10:g.53153547G>C, NM_023077.3:c.541C>T, NM_023077.3:c.541C>G, NM_023077.2:c.541C>T, NM_023077.2:c.541C>G, NP_075565.2:p.Leu181Val

Select item 14502922529.

rs1450292252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52698228 (GRCh38)
1:53163900 (GRCh37)
Canonical SPDI:: NC_000001.11:52698227:G:A
Gene:: COA7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.52698228G>A, NC_000001.10:g.53163900G>A, NM_023077.3:c.99C>T, NM_023077.2:c.99C>T

Select item 144763291510.

rs1447632915 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCTGCTATTGACTTCTTTCCA>- [Show Flanks]
Chromosome:: 1:52688086 (GRCh38)
1:53153758 (GRCh37)
Canonical SPDI:: NC_000001.11:52688083:CATGCTGCTATTGACTTCTTTCCA:CA
Gene:: COA7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52688086_52688107del, NC_000001.10:g.53153758_53153779del, NM_023077.3:c.311_332del, NM_023077.2:c.311_332del, NP_075565.2:p.Gly104fs

Select item 144517295811.

rs1445172958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:52687913 (GRCh38)
1:53153585 (GRCh37)
Canonical SPDI:: NC_000001.11:52687912:A:C,NC_000001.11:52687912:A:G
Gene:: COA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.52687913A>C, NC_000001.11:g.52687913A>G, NC_000001.10:g.53153585A>C, NC_000001.10:g.53153585A>G, NM_023077.3:c.503T>G, NM_023077.3:c.503T>C, NM_023077.2:c.503T>G, NM_023077.2:c.503T>C, NP_075565.2:p.Met168Arg, NP_075565.2:p.Met168Thr

Select item 144242162312.

rs1442421623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:52688111 (GRCh38)
1:53153783 (GRCh37)
Canonical SPDI:: NC_000001.11:52688110:T:G
Gene:: COA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52688111T>G, NC_000001.10:g.53153783T>G, NM_023077.3:c.305A>C, NM_023077.2:c.305A>C, NP_075565.2:p.Lys102Thr

Select item 142618545613.

rs1426185456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52687864 (GRCh38)
1:53153536 (GRCh37)
Canonical SPDI:: NC_000001.11:52687863:G:A
Gene:: COA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52687864G>A, NC_000001.10:g.53153536G>A, NM_023077.3:c.552C>T, NM_023077.2:c.552C>T

Select item 142164266714.

rs1421642667 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:52687824 (GRCh38)
1:53153496 (GRCh37)
Canonical SPDI:: NC_000001.11:52687823:CCCCC:CCCC
Gene:: COA7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.52687828del, NC_000001.10:g.53153500del, NM_023077.3:c.592del, NM_023077.2:c.592del, NP_075565.2:p.Asp198fs

Select item 141096097115.

rs1410960971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:52687849 (GRCh38)
1:53153521 (GRCh37)
Canonical SPDI:: NC_000001.11:52687848:A:G
Gene:: COA7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.52687849A>G, NC_000001.10:g.53153521A>G, NM_023077.3:c.567T>C, NM_023077.2:c.567T>C

Select item 140966129716.

rs1409661297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:52692768 (GRCh38)
1:53158440 (GRCh37)
Canonical SPDI:: NC_000001.11:52692767:T:C
Gene:: COA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.52692768T>C, NC_000001.10:g.53158440T>C, NM_023077.3:c.206A>G, NM_023077.2:c.206A>G, NP_075565.2:p.Asp69Gly

Select item 140632025117.

rs1406320251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:52687789 (GRCh38)
1:53153461 (GRCh37)
Canonical SPDI:: NC_000001.11:52687788:C:T
Gene:: COA7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52687789C>T, NC_000001.10:g.53153461C>T, NM_023077.3:c.627G>A, NM_023077.2:c.627G>A

Select item 140622982518.

rs1406229825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:52698299 (GRCh38)
1:53163971 (GRCh37)
Canonical SPDI:: NC_000001.11:52698298:C:T
Gene:: COA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.52698299C>T, NC_000001.10:g.53163971C>T, NM_023077.3:c.28G>A, NM_023077.2:c.28G>A, NP_075565.2:p.Glu10Lys

Select item 139597003619.

rs1395970036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:52688107 (GRCh38)
1:53153779 (GRCh37)
Canonical SPDI:: NC_000001.11:52688106:A:C
Gene:: COA7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.52688107A>C, NC_000001.10:g.53153779A>C, NM_023077.3:c.309T>G, NM_023077.2:c.309T>G

Select item 139544437920.

rs1395444379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:52692758 (GRCh38)
1:53158430 (GRCh37)
Canonical SPDI:: NC_000001.11:52692757:G:A
Gene:: COA7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.52692758G>A, NC_000001.10:g.53158430G>A, NM_023077.3:c.216C>T, NM_023077.2:c.216C>T

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