SNP Links for Protein (Select 4502993) - SNP

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Links from Protein

Items: 1 to 20 of 52

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Select item 14617206511.

rs1461720651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:86618096 (GRCh38)
5:85913913 (GRCh37)
Canonical SPDI:: NC_000005.10:86618095:T:C
Gene:: COX7C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.86618096T>C, NC_000005.9:g.85913913T>C, NG_061606.1:g.445T>C, NM_001867.3:c.41T>C, NM_001867.2:c.41T>C, NP_001858.1:p.Val14Ala

Select item 14493708412.

rs1449370841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:86619376 (GRCh38)
5:85915193 (GRCh37)
Canonical SPDI:: NC_000005.10:86619375:C:G
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.86619376C>G, NC_000005.9:g.85915193C>G, NM_001867.3:c.99C>G, NM_001867.2:c.99C>G, NP_001858.1:p.Asn33Lys

Select item 14285785543.

rs1428578554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:86619396 (GRCh38)
5:85915213 (GRCh37)
Canonical SPDI:: NC_000005.10:86619395:A:C
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.86619396A>C, NC_000005.9:g.85915213A>C, NM_001867.3:c.119A>C, NM_001867.2:c.119A>C, NP_001858.1:p.Lys40Thr

Select item 13844344774.

rs1384434477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:86619429 (GRCh38)
5:85915246 (GRCh37)
Canonical SPDI:: NC_000005.10:86619428:C:T
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.86619429C>T, NC_000005.9:g.85915246C>T, NM_001867.3:c.152C>T, NM_001867.2:c.152C>T, NP_001858.1:p.Thr51Ile

Select item 13413013415.

rs1341301341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:86618073 (GRCh38)
5:85913890 (GRCh37)
Canonical SPDI:: NC_000005.10:86618072:C:T
Gene:: COX7C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00055/1 (Korea1K)
HGVS:: NC_000005.10:g.86618073C>T, NC_000005.9:g.85913890C>T, NG_061606.1:g.422C>T, NM_001867.3:c.18C>T, NM_001867.2:c.18C>T

Select item 13385800436.

rs1338580043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:86619446 (GRCh38)
5:85915263 (GRCh37)
Canonical SPDI:: NC_000005.10:86619445:A:G
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.86619446A>G, NC_000005.9:g.85915263A>G, NM_001867.3:c.169A>G, NM_001867.2:c.169A>G, NP_001858.1:p.Arg57Gly

Select item 13316657527.

rs1331665752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:86619392 (GRCh38)
5:85915209 (GRCh37)
Canonical SPDI:: NC_000005.10:86619391:G:T
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.86619392G>T, NC_000005.9:g.85915209G>T, NM_001867.3:c.115G>T, NM_001867.2:c.115G>T, NP_001858.1:p.Ala39Ser

Select item 13305359058.

rs1330535905 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:86619442 (GRCh38)
5:85915259 (GRCh37)
Canonical SPDI:: NC_000005.10:86619441:A:G,NC_000005.10:86619441:A:T
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.86619442A>G, NC_000005.10:g.86619442A>T, NC_000005.9:g.85915259A>G, NC_000005.9:g.85915259A>T, NM_001867.3:c.165A>G, NM_001867.3:c.165A>T, NM_001867.2:c.165A>G, NM_001867.2:c.165A>T

Select item 13228215149.

rs1322821514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:86619448 (GRCh38)
5:85915265 (GRCh37)
Canonical SPDI:: NC_000005.10:86619447:A:G
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_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_000005.10:g.86619448A>G, NC_000005.9:g.85915265A>G, NM_001867.3:c.171A>G, NM_001867.2:c.171A>G

Select item 131539721110.

rs1315397211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:86619454 (GRCh38)
5:85915271 (GRCh37)
Canonical SPDI:: NC_000005.10:86619453:A:G
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.86619454A>G, NC_000005.9:g.85915271A>G, NM_001867.3:c.177A>G, NM_001867.2:c.177A>G

Select item 129769879911.

rs1297698799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:86619440 (GRCh38)
5:85915257 (GRCh37)
Canonical SPDI:: NC_000005.10:86619439:G:A
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.86619440G>A, NC_000005.9:g.85915257G>A, NM_001867.3:c.163G>A, NM_001867.2:c.163G>A, NP_001858.1:p.Val55Ile

Select item 126251398212.

rs1262513982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:86618092 (GRCh38)
5:85913909 (GRCh37)
Canonical SPDI:: NC_000005.10:86618091:G:C
Gene:: COX7C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.86618092G>C, NC_000005.9:g.85913909G>C, NG_061606.1:g.441G>C, NM_001867.3:c.37G>C, NM_001867.2:c.37G>C, NP_001858.1:p.Val13Leu

Select item 123936218413.

rs1239362184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:86618122 (GRCh38)
5:85913939 (GRCh37)
Canonical SPDI:: NC_000005.10:86618121:C:T
Gene:: COX7C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.86618122C>T, NC_000005.9:g.85913939C>T, NG_061606.1:g.471C>T, NM_001867.3:c.67C>T, NM_001867.2:c.67C>T, NP_001858.1:p.Pro23Ser

Select item 122110880714.

rs1221108807 [Homo sapiens]

Variant type:: DEL
Alleles:: ACAAGTGGTC>- [Show Flanks]
Chromosome:: 5:86619375 (GRCh38)
5:85915192 (GRCh37)
Canonical SPDI:: NC_000005.10:86619374:ACAAGTGGTC:
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.86619375_86619384del, NC_000005.9:g.85915192_85915201del, NM_001867.3:c.98_107del, NM_001867.2:c.98_107del, NP_001858.1:p.Asn33fs

Select item 119629857115.

rs1196298571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:86618118 (GRCh38)
5:85913935 (GRCh37)
Canonical SPDI:: NC_000005.10:86618117:G:C
Gene:: COX7C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.86618118G>C, NC_000005.9:g.85913935G>C, NG_061606.1:g.467G>C, NM_001867.3:c.63G>C, NM_001867.2:c.63G>C, NP_001858.1:p.Glu21Asp

Select item 117945884616.

rs1179458846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:86618123 (GRCh38)
5:85913940 (GRCh37)
Canonical SPDI:: NC_000005.10:86618122:C:G,NC_000005.10:86618122:C:T
Gene:: COX7C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.86618123C>G, NC_000005.10:g.86618123C>T, NC_000005.9:g.85913940C>G, NC_000005.9:g.85913940C>T, NG_061606.1:g.472C>G, NG_061606.1:g.472C>T, NM_001867.3:c.68C>G, NM_001867.3:c.68C>T, NM_001867.2:c.68C>G, NM_001867.2:c.68C>T, NP_001858.1:p.Pro23Arg, NP_001858.1:p.Pro23Leu

Select item 101451535917.

rs1014515359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:86618097 (GRCh38)
5:85913914 (GRCh37)
Canonical SPDI:: NC_000005.10:86618096:C:T
Gene:: COX7C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.86618097C>T, NC_000005.9:g.85913914C>T, NG_061606.1:g.446C>T, NM_001867.3:c.42C>T, NM_001867.2:c.42C>T

Select item 91059577418.

rs910595774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:86618116 (GRCh38)
5:85913933 (GRCh37)
Canonical SPDI:: NC_000005.10:86618115:G:A
Gene:: COX7C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.86618116G>A, NC_000005.9:g.85913933G>A, NG_061606.1:g.465G>A, NM_001867.3:c.61G>A, NM_001867.2:c.61G>A, NP_001858.1:p.Glu21Lys

Select item 89779870619.

rs897798706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:86619367 (GRCh38)
5:85915184 (GRCh37)
Canonical SPDI:: NC_000005.10:86619366:A:G
Gene:: COX7C (Varview), SNORD138 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.86619367A>G, NC_000005.9:g.85915184A>G, NM_001867.3:c.90A>G, NM_001867.2:c.90A>G

Select item 78017422720.

rs780174227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:86618120 (GRCh38)
5:85913937 (GRCh37)
Canonical SPDI:: NC_000005.10:86618119:G:T
Gene:: COX7C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0./0 (TWINSUK)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/1 (ExAC)
T=0.000008/2 (GnomAD_exomes)
T=0.000259/1 (ALSPAC)
HGVS:: NC_000005.10:g.86618120G>T, NC_000005.9:g.85913937G>T, NG_061606.1:g.469G>T, NM_001867.3:c.65G>T, NM_001867.2:c.65G>T, NP_001858.1:p.Gly22Val