SNP Links for Protein (Select 9506713) - SNP

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Links from Protein

Items: 1 to 20 of 210

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Select item 14897721981.

rs1489772198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109823982 (GRCh38)
4:110745138 (GRCh37)
Canonical SPDI:: NC_000004.12:109823981:A:G
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.109823982A>G, NC_000004.11:g.110745138A>G, NM_018983.4:c.589A>G, NM_018983.3:c.589A>G, NM_032993.2:c.589A>G, XM_047415789.1:c.589A>G, NP_061856.1:p.Arg197Gly, NP_127460.1:p.Arg197Gly, XP_047271745.1:p.Arg197Gly

Select item 14874309832.

rs1487430983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109822403 (GRCh38)
4:110743559 (GRCh37)
Canonical SPDI:: NC_000004.12:109822402:A:G
Gene:: GAR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109822403A>G, NC_000004.11:g.110743559A>G, NM_018983.4:c.486A>G, NM_018983.3:c.486A>G, NM_032993.2:c.486A>G, XM_047415789.1:c.486A>G

Select item 14856984823.

rs1485698482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109818026 (GRCh38)
4:110739182 (GRCh37)
Canonical SPDI:: NC_000004.12:109818025:T:C
Gene:: GAR1 (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_000004.12:g.109818026T>C, NC_000004.11:g.110739182T>C, NM_018983.4:c.305T>C, NM_018983.3:c.305T>C, NM_032993.2:c.305T>C, XM_047415789.1:c.305T>C, NP_061856.1:p.Val102Ala, NP_127460.1:p.Val102Ala, XP_047271745.1:p.Val102Ala

Select item 14745600384.

rs1474560038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:109817987 (GRCh38)
4:110739143 (GRCh37)
Canonical SPDI:: NC_000004.12:109817986:C:A
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.109817987C>A, NC_000004.11:g.110739143C>A, NM_018983.4:c.266C>A, NM_018983.3:c.266C>A, NM_032993.2:c.266C>A, XM_047415789.1:c.266C>A, NP_061856.1:p.Thr89Asn, NP_127460.1:p.Thr89Asn, XP_047271745.1:p.Thr89Asn

Select item 14734965225.

rs1473496522 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:109816175 (GRCh38)
4:110737331 (GRCh37)
Canonical SPDI:: NC_000004.12:109816174:G:C
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109816175G>C, NC_000004.11:g.110737331G>C, NM_018983.4:c.11G>C, NM_018983.3:c.11G>C, NM_032993.2:c.11G>C, XM_047415789.1:c.11G>C, NP_061856.1:p.Arg4Pro, NP_127460.1:p.Arg4Pro, XP_047271745.1:p.Arg4Pro

Select item 14710782996.

rs1471078299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109822461 (GRCh38)
4:110743617 (GRCh37)
Canonical SPDI:: NC_000004.12:109822460:G:A
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109822461G>A, NC_000004.11:g.110743617G>A, NM_018983.4:c.544G>A, NM_018983.3:c.544G>A, NM_032993.2:c.544G>A, XM_047415789.1:c.544G>A, NP_061856.1:p.Gly182Arg, NP_127460.1:p.Gly182Arg, XP_047271745.1:p.Gly182Arg

Select item 14693932767.

rs1469393276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109822442 (GRCh38)
4:110743598 (GRCh37)
Canonical SPDI:: NC_000004.12:109822441:C:T
Gene:: GAR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.109822442C>T, NC_000004.11:g.110743598C>T, NM_018983.4:c.525C>T, NM_018983.3:c.525C>T, NM_032993.2:c.525C>T, XM_047415789.1:c.525C>T

Select item 14689652608.

rs1468965260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109819035 (GRCh38)
4:110740191 (GRCh37)
Canonical SPDI:: NC_000004.12:109819034:C:T
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109819035C>T, NC_000004.11:g.110740191C>T, NM_018983.4:c.404C>T, NM_018983.3:c.404C>T, NM_032993.2:c.404C>T, XM_047415789.1:c.404C>T, NP_061856.1:p.Ala135Val, NP_127460.1:p.Ala135Val, XP_047271745.1:p.Ala135Val

Select item 14629092739.

rs1462909273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109816339 (GRCh38)
4:110737495 (GRCh37)
Canonical SPDI:: NC_000004.12:109816338:A:G
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.109816339A>G, NC_000004.11:g.110737495A>G, NM_018983.4:c.175A>G, NM_018983.3:c.175A>G, NM_032993.2:c.175A>G, XM_047415789.1:c.175A>G, NP_061856.1:p.Asn59Asp, NP_127460.1:p.Asn59Asp, XP_047271745.1:p.Asn59Asp

Select item 146227092810.

rs1462270928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109822431 (GRCh38)
4:110743587 (GRCh37)
Canonical SPDI:: NC_000004.12:109822430:G:A
Gene:: GAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109822431G>A, NC_000004.11:g.110743587G>A, NM_018983.4:c.514G>A, NM_018983.3:c.514G>A, NM_032993.2:c.514G>A, XM_047415789.1:c.514G>A, NP_061856.1:p.Gly172Ser, NP_127460.1:p.Gly172Ser, XP_047271745.1:p.Gly172Ser

Select item 145271693611.

rs1452716936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109823985 (GRCh38)
4:110745141 (GRCh37)
Canonical SPDI:: NC_000004.12:109823984:G:A
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109823985G>A, NC_000004.11:g.110745141G>A, NM_018983.4:c.592G>A, NM_018983.3:c.592G>A, NM_032993.2:c.592G>A, XM_047415789.1:c.592G>A, NP_061856.1:p.Gly198Arg, NP_127460.1:p.Gly198Arg, XP_047271745.1:p.Gly198Arg

Select item 143907315612.

rs1439073156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109816320 (GRCh38)
4:110737476 (GRCh37)
Canonical SPDI:: NC_000004.12:109816319:G:A
Gene:: GAR1 (Varview), LOC124900758 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109816320G>A, NC_000004.11:g.110737476G>A, NM_018983.4:c.156G>A, NM_018983.3:c.156G>A, NM_032993.2:c.156G>A, XM_047415789.1:c.156G>A

Select item 143824119213.

rs1438241192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109819020 (GRCh38)
4:110740176 (GRCh37)
Canonical SPDI:: NC_000004.12:109819019:C:T
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109819020C>T, NC_000004.11:g.110740176C>T, NM_018983.4:c.389C>T, NM_018983.3:c.389C>T, NM_032993.2:c.389C>T, XM_047415789.1:c.389C>T, NP_061856.1:p.Ser130Leu, NP_127460.1:p.Ser130Leu, XP_047271745.1:p.Ser130Leu

Select item 142933298314.

rs1429332983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109823991 (GRCh38)
4:110745147 (GRCh37)
Canonical SPDI:: NC_000004.12:109823990:G:A
Gene:: GAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109823991G>A, NC_000004.11:g.110745147G>A, NM_018983.4:c.598G>A, NM_018983.3:c.598G>A, NM_032993.2:c.598G>A, XM_047415789.1:c.598G>A, NP_061856.1:p.Gly200Arg, NP_127460.1:p.Gly200Arg, XP_047271745.1:p.Gly200Arg

Select item 142317090515.

rs1423170905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:109822359 (GRCh38)
4:110743515 (GRCh37)
Canonical SPDI:: NC_000004.12:109822358:C:G
Gene:: GAR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109822359C>G, NC_000004.11:g.110743515C>G, NM_018983.4:c.442C>G, NM_018983.3:c.442C>G, NM_032993.2:c.442C>G, XM_047415789.1:c.442C>G, NP_061856.1:p.Pro148Ala, NP_127460.1:p.Pro148Ala, XP_047271745.1:p.Pro148Ala

Select item 142205332716.

rs1422053327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109818062 (GRCh38)
4:110739218 (GRCh37)
Canonical SPDI:: NC_000004.12:109818061:A:G
Gene:: GAR1 (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)
HGVS:: NC_000004.12:g.109818062A>G, NC_000004.11:g.110739218A>G, NM_018983.4:c.341A>G, NM_018983.3:c.341A>G, NM_032993.2:c.341A>G, XM_047415789.1:c.341A>G, NP_061856.1:p.Asp114Gly, NP_127460.1:p.Asp114Gly, XP_047271745.1:p.Asp114Gly

Select item 142022511217.

rs1420225112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109822368 (GRCh38)
4:110743524 (GRCh37)
Canonical SPDI:: NC_000004.12:109822367:C:T
Gene:: GAR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109822368C>T, NC_000004.11:g.110743524C>T, NM_018983.4:c.451C>T, NM_018983.3:c.451C>T, NM_032993.2:c.451C>T, XM_047415789.1:c.451C>T

Select item 141094936318.

rs1410949363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:109822356 (GRCh38)
4:110743512 (GRCh37)
Canonical SPDI:: NC_000004.12:109822355:G:C
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.109822356G>C, NC_000004.11:g.110743512G>C, NM_018983.4:c.439G>C, NM_018983.3:c.439G>C, NM_032993.2:c.439G>C, XM_047415789.1:c.439G>C, NP_061856.1:p.Asp147His, NP_127460.1:p.Asp147His, XP_047271745.1:p.Asp147His

Select item 140541641419.

rs1405416414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109822479 (GRCh38)
4:110743635 (GRCh37)
Canonical SPDI:: NC_000004.12:109822478:G:A
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.109822479G>A, NC_000004.11:g.110743635G>A, NM_018983.4:c.562G>A, NM_018983.3:c.562G>A, NM_032993.2:c.562G>A, XM_047415789.1:c.562G>A, NP_061856.1:p.Gly188Ser, NP_127460.1:p.Gly188Ser, XP_047271745.1:p.Gly188Ser

Select item 140218744520.

rs1402187445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109817984 (GRCh38)
4:110739140 (GRCh37)
Canonical SPDI:: NC_000004.12:109817983:G:A
Gene:: GAR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109817984G>A, NC_000004.11:g.110739140G>A, NM_018983.4:c.263G>A, NM_018983.3:c.263G>A, NM_032993.2:c.263G>A, XM_047415789.1:c.263G>A, NP_061856.1:p.Cys88Tyr, NP_127460.1:p.Cys88Tyr, XP_047271745.1:p.Cys88Tyr

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