SNP Links for Protein (Select 48762934) - SNP

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Links from Protein

Items: 1 to 20 of 1000

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Select item 14906043491.

rs1490604349 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:94401589 (GRCh38)
7:94030901 (GRCh37)
Canonical SPDI:: NC_000007.14:94401588:G:C
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.94401589G>C, NC_000007.13:g.94030901G>C, NG_007405.1:g.12029G>C, NM_000089.4:c.248G>C, NM_000089.3:c.248G>C, NP_000080.2:p.Gly83Ala

Select item 14905804652.

rs1490580465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:94418512 (GRCh38)
7:94047824 (GRCh37)
Canonical SPDI:: NC_000007.14:94418511:T:C
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000684/2 (KOREAN)
HGVS:: NC_000007.14:g.94418512T>C, NC_000007.13:g.94047824T>C, NG_007405.1:g.28952T>C, NM_000089.4:c.1985T>C, NM_000089.3:c.1985T>C, NP_000080.2:p.Leu662Pro

Select item 14884832123.

rs1488483212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:94425147 (GRCh38)
7:94054459 (GRCh37)
Canonical SPDI:: NC_000007.14:94425146:C:A
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.94425147C>A, NC_000007.13:g.94054459C>A, NG_007405.1:g.35587C>A, NM_000089.4:c.2704C>A, NM_000089.3:c.2704C>A, NP_000080.2:p.Pro902Thr

Select item 14880905414.

rs1488090541 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:94427217 (GRCh38)
7:94056529 (GRCh37)
Canonical SPDI:: NC_000007.14:94427216:AAAA:AAA
Gene:: COL1A2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.00002/5 (GnomAD_exomes)
-=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.94427220del, NC_000007.13:g.94056532del, NG_007405.1:g.37660del, NM_000089.4:c.3192del, NM_000089.3:c.3192del, NP_000080.2:p.Asp1065fs

Select item 14870673625.

rs1487067362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:94420414 (GRCh38)
7:94049726 (GRCh37)
Canonical SPDI:: NC_000007.14:94420413:T:C
Gene:: COL1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.94420414T>C, NC_000007.13:g.94049726T>C, NG_007405.1:g.30854T>C, NM_000089.4:c.2157T>C, NM_000089.3:c.2157T>C

Select item 14866439826.

rs1486643982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:94428321 (GRCh38)
7:94057633 (GRCh37)
Canonical SPDI:: NC_000007.14:94428320:A:G
Gene:: COL1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94428321A>G, NC_000007.13:g.94057633A>G, NG_007405.1:g.38761A>G, NM_000089.4:c.3555A>G, NM_000089.3:c.3555A>G

Select item 14851025327.

rs1485102532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94422995 (GRCh38)
7:94052307 (GRCh37)
Canonical SPDI:: NC_000007.14:94422994:G:A
Gene:: COL1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000007.14:g.94422995G>A, NC_000007.13:g.94052307G>A, NG_007405.1:g.33435G>A, NM_000089.4:c.2442G>A, NM_000089.3:c.2442G>A

Select item 14846674118.

rs1484667411 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:94413908 (GRCh38)
7:94043220 (GRCh37)
Canonical SPDI:: NC_000007.14:94413907:AAAA:AAA
Gene:: COL1A2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.94413911del, NC_000007.13:g.94043223del, NG_007405.1:g.24351del, NM_000089.4:c.1629del, NM_000089.3:c.1629del, NP_000080.2:p.Gly544fs

Select item 14843689139.

rs1484368913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:94430287 (GRCh38)
7:94059599 (GRCh37)
Canonical SPDI:: NC_000007.14:94430286:A:T
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.94430287A>T, NC_000007.13:g.94059599A>T, NG_007405.1:g.40727A>T, NM_000089.4:c.3995A>T, NM_000089.3:c.3995A>T, NP_000080.2:p.Lys1332Ile

Select item 148408324610.

rs1484083246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:94424419 (GRCh38)
7:94053731 (GRCh37)
Canonical SPDI:: NC_000007.14:94424418:T:G
Gene:: COL1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94424419T>G, NC_000007.13:g.94053731T>G, NG_007405.1:g.34859T>G, NM_000089.4:c.2649T>G, NM_000089.3:c.2649T>G

Select item 148395002211.

rs1483950022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94405707 (GRCh38)
7:94035019 (GRCh37)
Canonical SPDI:: NC_000007.14:94405706:C:T
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94405707C>T, NC_000007.13:g.94035019C>T, NG_007405.1:g.16147C>T, NM_000089.4:c.521C>T, NM_000089.3:c.521C>T, NP_000080.2:p.Pro174Leu

Select item 148310706112.

rs1483107061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:94425612 (GRCh38)
7:94054924 (GRCh37)
Canonical SPDI:: NC_000007.14:94425611:C:A
Gene:: COL1A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94425612C>A, NC_000007.13:g.94054924C>A, NG_007405.1:g.36052C>A, NM_000089.4:c.2784C>A, NM_000089.3:c.2784C>A

Select item 148302286813.

rs1483022868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:94425840 (GRCh38)
7:94055152 (GRCh37)
Canonical SPDI:: NC_000007.14:94425839:G:A,NC_000007.14:94425839:G:T
Gene:: COL1A2 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.94425840G>A, NC_000007.14:g.94425840G>T, NC_000007.13:g.94055152G>A, NC_000007.13:g.94055152G>T, NG_007405.1:g.36280G>A, NG_007405.1:g.36280G>T, NM_000089.4:c.2926G>A, NM_000089.4:c.2926G>T, NM_000089.3:c.2926G>A, NM_000089.3:c.2926G>T, NP_000080.2:p.Gly976Arg, NP_000080.2:p.Gly976Ter

Select item 148290147414.

rs1482901474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94425793 (GRCh38)
7:94055105 (GRCh37)
Canonical SPDI:: NC_000007.14:94425792:C:T
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.94425793C>T, NC_000007.13:g.94055105C>T, NG_007405.1:g.36233C>T, NM_000089.4:c.2879C>T, NM_000089.3:c.2879C>T, NP_000080.2:p.Ala960Val

Select item 148240073615.

rs1482400736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:94427681 (GRCh38)
7:94056993 (GRCh37)
Canonical SPDI:: NC_000007.14:94427680:T:C
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.94427681T>C, NC_000007.13:g.94056993T>C, NG_007405.1:g.38121T>C, NM_000089.4:c.3322T>C, NM_000089.3:c.3322T>C, NP_000080.2:p.Tyr1108His

Select item 148166380316.

rs1481663803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:94420281 (GRCh38)
7:94049593 (GRCh37)
Canonical SPDI:: NC_000007.14:94420280:A:G
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.94420281A>G, NC_000007.13:g.94049593A>G, NG_007405.1:g.30721A>G, NM_000089.4:c.2128A>G, NM_000089.3:c.2128A>G, NP_000080.2:p.Ser710Gly

Select item 148130506517.

rs1481305065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:94395075 (GRCh38)
7:94024387 (GRCh37)
Canonical SPDI:: NC_000007.14:94395074:T:C
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94395075T>C, NC_000007.13:g.94024387T>C, NG_007405.1:g.5515T>C, NM_000089.4:c.44T>C, NM_000089.3:c.44T>C, NP_000080.2:p.Val15Ala

Select item 148103651718.

rs1481036517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:94410432 (GRCh38)
7:94039744 (GRCh37)
Canonical SPDI:: NC_000007.14:94410431:C:T
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94410432C>T, NC_000007.13:g.94039744C>T, NG_007405.1:g.20872C>T, NM_000089.4:c.1102C>T, NM_000089.3:c.1102C>T, NP_000080.2:p.Pro368Ser

Select item 148078374119.

rs1480783741 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 7:94422983 (GRCh38)
7:94052295 (GRCh37)
Canonical SPDI:: NC_000007.14:94422982:T:
Gene:: COL1A2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.94422983del, NC_000007.13:g.94052295del, NG_007405.1:g.33423del, NM_000089.4:c.2430del, NM_000089.3:c.2430del, NP_000080.2:p.Gly811fs

Select item 147969590620.

rs1479695906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:94398382 (GRCh38)
7:94027694 (GRCh37)
Canonical SPDI:: NC_000007.14:94398381:G:A
Gene:: COL1A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.94398382G>A, NC_000007.13:g.94027694G>A, NG_007405.1:g.8822G>A, NM_000089.4:c.82G>A, NM_000089.3:c.82G>A, NP_000080.2:p.Glu28Lys

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