SNP Links for Protein (Select 578801381) - SNP

Links from Protein

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Select item 14870584241.

rs1487058424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145616252 (GRCh38)
1:145818808 (GRCh37)
Canonical SPDI:: NC_000001.11:145616251:G:A
Gene:: GPR89A (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145616252G>A, NW_003871055.3:g.2431665G>A, NC_000001.10:g.145818808C>T, XM_006711492.5:c.61G>A, XM_006711492.4:c.61G>A, XM_006711492.3:c.61G>A, XM_006711492.2:c.61G>A, XM_006711492.1:c.61G>A, NM_001097613.3:c.-15G>A, NM_001097613.2:c.-15G>A, XM_011509908.3:c.-15G>A, XM_011509908.2:c.-15G>A, XM_011509908.1:c.-15G>A, XM_011509909.3:c.-15G>A, XM_011509909.2:c.-15G>A, XM_011509909.1:c.-15G>A, XM_017002150.3:c.61G>A, XM_017002150.2:c.61G>A, XM_017002150.1:c.61G>A, NR_036541.2:n.207G>A, NR_036541.1:n.235G>A, NM_001097612.2:c.61G>A, NM_001097612.1:c.61G>A, XM_047428710.1:c.61G>A, XR_007063066.1:n.207G>A, XP_006711555.1:p.Gly21Arg, XP_016857639.1:p.Gly21Arg, NP_001091081.1:p.Gly21Arg, XP_047284666.1:p.Gly21Arg

Select item 14865025292.

rs1486502529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:145669886 (GRCh38)
1:145765173 (GRCh37)
Canonical SPDI:: NC_000001.11:145669885:A:C
Gene:: GPR89A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.145669886A>C, NW_003871055.3:g.2485299A>C, NG_050630.2:g.43316T>G, NC_000001.10:g.145765173T>G, XM_006711492.5:c.1214A>C, XM_006711492.4:c.1214A>C, XM_006711492.3:c.1214A>C, XM_006711492.2:c.1214A>C, XM_006711492.1:c.1214A>C, NM_001097613.3:c.1139A>C, NM_001097613.2:c.1139A>C, XM_011509908.3:c.1139A>C, XM_011509908.2:c.1139A>C, XM_011509908.1:c.1139A>C, XM_011509909.3:c.1139A>C, XM_011509909.2:c.1139A>C, XM_011509909.1:c.1139A>C, NR_036541.2:n.1380A>C, NR_036541.1:n.1408A>C, NM_001097612.2:c.1214A>C, NM_001097612.1:c.1214A>C, XM_047428704.1:c.854A>C, XP_006711555.1:p.Glu405Ala, NP_001091082.2:p.Glu380Ala, XP_011508210.1:p.Glu380Ala, XP_011508211.1:p.Glu380Ala, NP_001091081.1:p.Glu405Ala, XP_047284660.1:p.Glu285Ala

Select item 14858401643.

rs1485840164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145646241 (GRCh38)
1:145788798 (GRCh37)
Canonical SPDI:: NC_000001.11:145646240:T:C
Gene:: GPR89A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.145646241T>C, NW_003871055.3:g.2461654T>C, NC_000001.10:g.145788798A>G, XM_006711492.5:c.785T>C, XM_006711492.4:c.785T>C, XM_006711492.3:c.785T>C, XM_006711492.2:c.785T>C, XM_006711492.1:c.785T>C, NM_001097613.3:c.710T>C, NM_001097613.2:c.710T>C, XM_011509908.3:c.710T>C, XM_011509908.2:c.710T>C, XM_011509908.1:c.710T>C, XM_011509909.3:c.710T>C, XM_011509909.2:c.710T>C, XM_011509909.1:c.710T>C, NR_036541.2:n.951T>C, NR_036541.1:n.979T>C, NM_001097612.2:c.785T>C, NM_001097612.1:c.785T>C, XM_047428704.1:c.425T>C, XP_006711555.1:p.Phe262Ser, NP_001091082.2:p.Phe237Ser, XP_011508210.1:p.Phe237Ser, XP_011508211.1:p.Phe237Ser, NP_001091081.1:p.Phe262Ser, XP_047284660.1:p.Phe142Ser

Select item 14827971474.

rs1482797147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145647253 (GRCh38)
1:145787786 (GRCh37)
Canonical SPDI:: NC_000001.11:145647252:T:C
Gene:: GPR89A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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.145647253T>C, NW_003871055.3:g.2462666T>C, NC_000001.10:g.145787786A>G, XM_006711492.5:c.895T>C, XM_006711492.4:c.895T>C, XM_006711492.3:c.895T>C, XM_006711492.2:c.895T>C, XM_006711492.1:c.895T>C, NM_001097613.3:c.820T>C, NM_001097613.2:c.820T>C, XM_011509908.3:c.820T>C, XM_011509908.2:c.820T>C, XM_011509908.1:c.820T>C, XM_011509909.3:c.820T>C, XM_011509909.2:c.820T>C, XM_011509909.1:c.820T>C, NR_036541.2:n.1061T>C, NR_036541.1:n.1089T>C, NM_001097612.2:c.895T>C, NM_001097612.1:c.895T>C, XM_047428704.1:c.535T>C, XP_006711555.1:p.Trp299Arg, NP_001091082.2:p.Trp274Arg, XP_011508210.1:p.Trp274Arg, XP_011508211.1:p.Trp274Arg, NP_001091081.1:p.Trp299Arg, XP_047284660.1:p.Trp179Arg

Select item 14789869945.

rs1478986994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145665643 (GRCh38)
1:145769416 (GRCh37)
Canonical SPDI:: NC_000001.11:145665642:C:T
Gene:: GPR89A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.145665643C>T, NW_003871055.3:g.2481056C>T, NC_000001.10:g.145769416G>A, XM_006711492.5:c.1087C>T, XM_006711492.4:c.1087C>T, XM_006711492.3:c.1087C>T, XM_006711492.2:c.1087C>T, XM_006711492.1:c.1087C>T, NM_001097613.3:c.1012C>T, NM_001097613.2:c.1012C>T, XM_011509908.3:c.1012C>T, XM_011509908.2:c.1012C>T, XM_011509908.1:c.1012C>T, XM_011509909.3:c.1012C>T, XM_011509909.2:c.1012C>T, XM_011509909.1:c.1012C>T, NR_036541.2:n.1253C>T, NR_036541.1:n.1281C>T, NM_001097612.2:c.1087C>T, NM_001097612.1:c.1087C>T, XM_047428704.1:c.727C>T, XP_006711555.1:p.Leu363Phe, NP_001091082.2:p.Leu338Phe, XP_011508210.1:p.Leu338Phe, XP_011508211.1:p.Leu338Phe, NP_001091081.1:p.Leu363Phe, XP_047284660.1:p.Leu243Phe

Select item 14760064406.

rs1476006440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:145669999 (GRCh38)
1:145765060 (GRCh37)
Canonical SPDI:: NC_000001.11:145669998:T:A
Gene:: GPR89A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00027/5 (ALFA)
A=0.000046/6 (GnomAD)
HGVS:: NC_000001.11:g.145669999T>A, NW_003871055.3:g.2485412T>A, NG_050630.2:g.43203A>T, NC_000001.10:g.145765060A>T, XM_006711492.5:c.1327T>A, XM_006711492.4:c.1327T>A, XM_006711492.3:c.1327T>A, XM_006711492.2:c.1327T>A, XM_006711492.1:c.1327T>A, NM_001097613.3:c.1252T>A, NM_001097613.2:c.1252T>A, XM_011509908.3:c.1252T>A, XM_011509908.2:c.1252T>A, XM_011509908.1:c.1252T>A, XM_011509909.3:c.1252T>A, XM_011509909.2:c.1252T>A, XM_011509909.1:c.1252T>A, NR_036541.2:n.1493T>A, NR_036541.1:n.1521T>A, NM_001097612.2:c.1327T>A, NM_001097612.1:c.1327T>A, XM_047428704.1:c.967T>A, XP_006711555.1:p.Leu443Met, NP_001091082.2:p.Leu418Met, XP_011508210.1:p.Leu418Met, XP_011508211.1:p.Leu418Met, NP_001091081.1:p.Leu443Met, XP_047284660.1:p.Leu323Met

Select item 14734193447.

rs1473419344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:145643956 (GRCh38)
1:145791083 (GRCh37)
Canonical SPDI:: NC_000001.11:145643955:C:G
Gene:: GPR89A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.145643956C>G, NW_003871055.3:g.2459369C>G, NC_000001.10:g.145791083G>C, XM_006711492.5:c.705C>G, XM_006711492.4:c.705C>G, XM_006711492.3:c.705C>G, XM_006711492.2:c.705C>G, XM_006711492.1:c.705C>G, NM_001097613.3:c.630C>G, NM_001097613.2:c.630C>G, XM_011509908.3:c.630C>G, XM_011509908.2:c.630C>G, XM_011509908.1:c.630C>G, XM_011509909.3:c.630C>G, XM_011509909.2:c.630C>G, XM_011509909.1:c.630C>G, XM_017002150.3:c.705C>G, XM_017002150.2:c.705C>G, XM_017002150.1:c.705C>G, NR_036541.2:n.871C>G, NR_036541.1:n.899C>G, NM_001097612.2:c.705C>G, NM_001097612.1:c.705C>G, XM_047428704.1:c.345C>G, XM_047428710.1:c.705C>G, XR_007063066.1:n.851C>G

Select item 14710343818.

rs1471034381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145631741 (GRCh38)
1:145803311 (GRCh37)
Canonical SPDI:: NC_000001.11:145631740:A:G
Gene:: GPR89A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.145631741A>G, NW_003871055.3:g.2447154A>G, NC_000001.10:g.145803311T>C, XM_006711492.5:c.614A>G, XM_006711492.4:c.614A>G, XM_006711492.3:c.614A>G, XM_006711492.2:c.614A>G, XM_006711492.1:c.614A>G, NM_001097613.3:c.539A>G, NM_001097613.2:c.539A>G, XM_011509908.3:c.539A>G, XM_011509908.2:c.539A>G, XM_011509908.1:c.539A>G, XM_011509909.3:c.539A>G, XM_011509909.2:c.539A>G, XM_011509909.1:c.539A>G, XM_017002150.3:c.614A>G, XM_017002150.2:c.614A>G, XM_017002150.1:c.614A>G, NR_036541.2:n.780A>G, NR_036541.1:n.808A>G, NM_001097612.2:c.614A>G, NM_001097612.1:c.614A>G, XM_047428704.1:c.254A>G, XM_047428710.1:c.614A>G, XR_007063066.1:n.760A>G, XP_006711555.1:p.Lys205Arg, NP_001091082.2:p.Lys180Arg, XP_011508210.1:p.Lys180Arg, XP_011508211.1:p.Lys180Arg, XP_016857639.1:p.Lys205Arg, NP_001091081.1:p.Lys205Arg, XP_047284660.1:p.Lys85Arg, XP_047284666.1:p.Lys205Arg

Select item 14706521879.

rs1470652187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145618423 (GRCh38)
1:145816637 (GRCh37)
Canonical SPDI:: NC_000001.11:145618422:G:A
Gene:: GPR89A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.145618423G>A, NW_003871055.3:g.2433836G>A, NC_000001.10:g.145816637C>T, XM_006711492.5:c.206G>A, XM_006711492.4:c.206G>A, XM_006711492.3:c.206G>A, XM_006711492.2:c.206G>A, XM_006711492.1:c.206G>A, NM_001097613.3:c.131G>A, NM_001097613.2:c.131G>A, XM_011509908.3:c.131G>A, XM_011509908.2:c.131G>A, XM_011509908.1:c.131G>A, XM_011509909.3:c.131G>A, XM_011509909.2:c.131G>A, XM_011509909.1:c.131G>A, XM_017002150.3:c.206G>A, XM_017002150.2:c.206G>A, XM_017002150.1:c.206G>A, NR_036541.2:n.352G>A, NR_036541.1:n.380G>A, NM_001097612.2:c.206G>A, NM_001097612.1:c.206G>A, XM_047428710.1:c.206G>A, XR_007063066.1:n.352G>A, XP_006711555.1:p.Ser69Asn, NP_001091082.2:p.Ser44Asn, XP_011508210.1:p.Ser44Asn, XP_011508211.1:p.Ser44Asn, XP_016857639.1:p.Ser69Asn, NP_001091081.1:p.Ser69Asn, XP_047284666.1:p.Ser69Asn

Select item 146082176210.

rs1460821762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145618338 (GRCh38)
1:145816722 (GRCh37)
Canonical SPDI:: NC_000001.11:145618337:C:T
Gene:: GPR89A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.145618338C>T, NW_003871055.3:g.2433751C>T, NC_000001.10:g.145816722G>A, XM_006711492.5:c.121C>T, XM_006711492.4:c.121C>T, XM_006711492.3:c.121C>T, XM_006711492.2:c.121C>T, XM_006711492.1:c.121C>T, NM_001097613.3:c.46C>T, NM_001097613.2:c.46C>T, XM_011509908.3:c.46C>T, XM_011509908.2:c.46C>T, XM_011509908.1:c.46C>T, XM_011509909.3:c.46C>T, XM_011509909.2:c.46C>T, XM_011509909.1:c.46C>T, XM_017002150.3:c.121C>T, XM_017002150.2:c.121C>T, XM_017002150.1:c.121C>T, NR_036541.2:n.267C>T, NR_036541.1:n.295C>T, NM_001097612.2:c.121C>T, NM_001097612.1:c.121C>T, XM_047428710.1:c.121C>T, XR_007063066.1:n.267C>T, XP_006711555.1:p.Gln41Ter, NP_001091082.2:p.Gln16Ter, XP_011508210.1:p.Gln16Ter, XP_011508211.1:p.Gln16Ter, XP_016857639.1:p.Gln41Ter, NP_001091081.1:p.Gln41Ter, XP_047284666.1:p.Gln41Ter

Select item 146029559111.

rs1460295591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145608159 (GRCh38)
1:145826904 (GRCh37)
Canonical SPDI:: NC_000001.11:145608158:T:C
Gene:: GPR89A (Varview), NBPF25P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.145608159T>C, NW_003871055.3:g.2423572T>C, NC_000001.10:g.145826904A>G, XM_006711492.5:c.26T>C, XM_006711492.4:c.26T>C, XM_006711492.3:c.26T>C, XM_006711492.2:c.26T>C, XM_006711492.1:c.26T>C, NM_001097613.3:c.-96T>C, NM_001097613.2:c.-96T>C, XM_011509908.3:c.-93T>C, XM_011509908.2:c.-93T>C, XM_011509908.1:c.-93T>C, XM_017002150.3:c.26T>C, XM_017002150.2:c.26T>C, XM_017002150.1:c.26T>C, NR_036541.2:n.172T>C, NR_036541.1:n.200T>C, NM_001097612.2:c.26T>C, NM_001097612.1:c.26T>C, XM_047428710.1:c.26T>C, XR_007063066.1:n.172T>C, XP_006711555.1:p.Ile9Thr, XP_016857639.1:p.Ile9Thr, NP_001091081.1:p.Ile9Thr, XP_047284666.1:p.Ile9Thr

Select item 145993606812.

rs1459936068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145630743 (GRCh38)
1:145804309 (GRCh37)
Canonical SPDI:: NC_000001.11:145630742:A:G
Gene:: GPR89A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.145630743A>G, NW_003871055.3:g.2446156A>G, NC_000001.10:g.145804309T>C, XM_006711492.5:c.472A>G, XM_006711492.4:c.472A>G, XM_006711492.3:c.472A>G, XM_006711492.2:c.472A>G, XM_006711492.1:c.472A>G, NM_001097613.3:c.397A>G, NM_001097613.2:c.397A>G, XM_011509908.3:c.397A>G, XM_011509908.2:c.397A>G, XM_011509908.1:c.397A>G, XM_011509909.3:c.397A>G, XM_011509909.2:c.397A>G, XM_011509909.1:c.397A>G, XM_017002150.3:c.472A>G, XM_017002150.2:c.472A>G, XM_017002150.1:c.472A>G, NR_036541.2:n.638A>G, NR_036541.1:n.666A>G, NM_001097612.2:c.472A>G, NM_001097612.1:c.472A>G, XM_047428704.1:c.112A>G, XM_047428710.1:c.472A>G, XR_007063066.1:n.618A>G, XP_006711555.1:p.Met158Val, NP_001091082.2:p.Met133Val, XP_011508210.1:p.Met133Val, XP_011508211.1:p.Met133Val, XP_016857639.1:p.Met158Val, NP_001091081.1:p.Met158Val, XP_047284660.1:p.Met38Val, XP_047284666.1:p.Met158Val

Select item 145852880913.

rs1458528809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:145630790 (GRCh38)
1:145804262 (GRCh37)
Canonical SPDI:: NC_000001.11:145630789:C:A
Gene:: GPR89A (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00012/2 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000001.11:g.145630790C>A, NW_003871055.3:g.2446203C>A, NC_000001.10:g.145804262G>T, XM_006711492.5:c.519C>A, XM_006711492.4:c.519C>A, XM_006711492.3:c.519C>A, XM_006711492.2:c.519C>A, XM_006711492.1:c.519C>A, NM_001097613.3:c.444C>A, NM_001097613.2:c.444C>A, XM_011509908.3:c.444C>A, XM_011509908.2:c.444C>A, XM_011509908.1:c.444C>A, XM_011509909.3:c.444C>A, XM_011509909.2:c.444C>A, XM_011509909.1:c.444C>A, XM_017002150.3:c.519C>A, XM_017002150.2:c.519C>A, XM_017002150.1:c.519C>A, NR_036541.2:n.685C>A, NR_036541.1:n.713C>A, NM_001097612.2:c.519C>A, NM_001097612.1:c.519C>A, XM_047428704.1:c.159C>A, XM_047428710.1:c.519C>A, XR_007063066.1:n.665C>A, XP_006711555.1:p.Tyr173Ter, NP_001091082.2:p.Tyr148Ter, XP_011508210.1:p.Tyr148Ter, XP_011508211.1:p.Tyr148Ter, XP_016857639.1:p.Tyr173Ter, NP_001091081.1:p.Tyr173Ter, XP_047284660.1:p.Tyr53Ter, XP_047284666.1:p.Tyr173Ter

Select item 145599898814.

rs1455998988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145647182 (GRCh38)
1:145787857 (GRCh37)
Canonical SPDI:: NC_000001.11:145647181:T:C
Gene:: GPR89A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
G=0.000028/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.145647182T>C, NW_003871055.3:g.2462595T>C, NC_000001.10:g.145787857A>G, XM_006711492.5:c.824T>C, XM_006711492.4:c.824T>C, XM_006711492.3:c.824T>C, XM_006711492.2:c.824T>C, XM_006711492.1:c.824T>C, NM_001097613.3:c.749T>C, NM_001097613.2:c.749T>C, XM_011509908.3:c.749T>C, XM_011509908.2:c.749T>C, XM_011509908.1:c.749T>C, XM_011509909.3:c.749T>C, XM_011509909.2:c.749T>C, XM_011509909.1:c.749T>C, NR_036541.2:n.990T>C, NR_036541.1:n.1018T>C, NM_001097612.2:c.824T>C, NM_001097612.1:c.824T>C, XM_047428704.1:c.464T>C, XP_006711555.1:p.Ile275Thr, NP_001091082.2:p.Ile250Thr, XP_011508210.1:p.Ile250Thr, XP_011508211.1:p.Ile250Thr, NP_001091081.1:p.Ile275Thr, XP_047284660.1:p.Ile155Thr

Select item 144875524115.

rs1448755241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:145643890 (GRCh38)
1:145791149 (GRCh37)
Canonical SPDI:: NC_000001.11:145643889:A:C,NC_000001.11:145643889:A:T
Gene:: GPR89A (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00016/1 (1000Genomes)
HGVS:: NC_000001.11:g.145643890A>C, NC_000001.11:g.145643890A>T, NW_003871055.3:g.2459303A>C, NW_003871055.3:g.2459303A>T, NC_000001.10:g.145791149T>G, NC_000001.10:g.145791149T>A, XM_006711492.5:c.639A>C, XM_006711492.5:c.639A>T, XM_006711492.4:c.639A>C, XM_006711492.4:c.639A>T, XM_006711492.3:c.639A>C, XM_006711492.3:c.639A>T, XM_006711492.2:c.639A>C, XM_006711492.2:c.639A>T, XM_006711492.1:c.639A>C, XM_006711492.1:c.639A>T, NM_001097613.3:c.564A>C, NM_001097613.3:c.564A>T, NM_001097613.2:c.564A>C, NM_001097613.2:c.564A>T, XM_011509908.3:c.564A>C, XM_011509908.3:c.564A>T, XM_011509908.2:c.564A>C, XM_011509908.2:c.564A>T, XM_011509908.1:c.564A>C, XM_011509908.1:c.564A>T, XM_011509909.3:c.564A>C, XM_011509909.3:c.564A>T, XM_011509909.2:c.564A>C, XM_011509909.2:c.564A>T, XM_011509909.1:c.564A>C, XM_011509909.1:c.564A>T, XM_017002150.3:c.639A>C, XM_017002150.3:c.639A>T, XM_017002150.2:c.639A>C, XM_017002150.2:c.639A>T, XM_017002150.1:c.639A>C, XM_017002150.1:c.639A>T, NR_036541.2:n.805A>C, NR_036541.2:n.805A>T, NR_036541.1:n.833A>C, NR_036541.1:n.833A>T, NM_001097612.2:c.639A>C, NM_001097612.2:c.639A>T, NM_001097612.1:c.639A>C, NM_001097612.1:c.639A>T, XM_047428704.1:c.279A>C, XM_047428704.1:c.279A>T, XM_047428710.1:c.639A>C, XM_047428710.1:c.639A>T, XR_007063066.1:n.785A>C, XR_007063066.1:n.785A>T

Select item 144308255216.

rs1443082552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:145623102 (GRCh38)
1:145811954 (GRCh37)
Canonical SPDI:: NC_000001.11:145623101:C:A,NC_000001.11:145623101:C:G
Gene:: GPR89A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145623102C>A, NC_000001.11:g.145623102C>G, NW_003871055.3:g.2438515C>A, NW_003871055.3:g.2438515C>G, NC_000001.10:g.145811954G>T, NC_000001.10:g.145811954G>C, XM_006711492.5:c.255C>A, XM_006711492.5:c.255C>G, XM_006711492.4:c.255C>A, XM_006711492.4:c.255C>G, XM_006711492.3:c.255C>A, XM_006711492.3:c.255C>G, XM_006711492.2:c.255C>A, XM_006711492.2:c.255C>G, XM_006711492.1:c.255C>A, XM_006711492.1:c.255C>G, NM_001097613.3:c.180C>A, NM_001097613.3:c.180C>G, NM_001097613.2:c.180C>A, NM_001097613.2:c.180C>G, XM_011509908.3:c.180C>A, XM_011509908.3:c.180C>G, XM_011509908.2:c.180C>A, XM_011509908.2:c.180C>G, XM_011509908.1:c.180C>A, XM_011509908.1:c.180C>G, XM_011509909.3:c.180C>A, XM_011509909.3:c.180C>G, XM_011509909.2:c.180C>A, XM_011509909.2:c.180C>G, XM_011509909.1:c.180C>A, XM_011509909.1:c.180C>G, XM_017002150.3:c.255C>A, XM_017002150.3:c.255C>G, XM_017002150.2:c.255C>A, XM_017002150.2:c.255C>G, XM_017002150.1:c.255C>A, XM_017002150.1:c.255C>G, NR_036541.2:n.401C>A, NR_036541.2:n.401C>G, NR_036541.1:n.429C>A, NR_036541.1:n.429C>G, NM_001097612.2:c.255C>A, NM_001097612.2:c.255C>G, NM_001097612.1:c.255C>A, NM_001097612.1:c.255C>G, XM_047428704.1:c.-126C>A, XM_047428704.1:c.-126C>G, XM_047428710.1:c.255C>A, XM_047428710.1:c.255C>G, XR_007063066.1:n.401C>A, XR_007063066.1:n.401C>G, XP_006711555.1:p.Ile85Met, NP_001091082.2:p.Ile60Met, XP_011508210.1:p.Ile60Met, XP_011508211.1:p.Ile60Met, XP_016857639.1:p.Ile85Met, NP_001091081.1:p.Ile85Met, XP_047284666.1:p.Ile85Met

Select item 144083560817.

rs1440835608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145631702 (GRCh38)
1:145803350 (GRCh37)
Canonical SPDI:: NC_000001.11:145631701:G:A
Gene:: GPR89A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00019/3 (ALFA)
HGVS:: NC_000001.11:g.145631702G>A, NW_003871055.3:g.2447115G>A, NC_000001.10:g.145803350C>T, XM_006711492.5:c.575G>A, XM_006711492.4:c.575G>A, XM_006711492.3:c.575G>A, XM_006711492.2:c.575G>A, XM_006711492.1:c.575G>A, NM_001097613.3:c.500G>A, NM_001097613.2:c.500G>A, XM_011509908.3:c.500G>A, XM_011509908.2:c.500G>A, XM_011509908.1:c.500G>A, XM_011509909.3:c.500G>A, XM_011509909.2:c.500G>A, XM_011509909.1:c.500G>A, XM_017002150.3:c.575G>A, XM_017002150.2:c.575G>A, XM_017002150.1:c.575G>A, NR_036541.2:n.741G>A, NR_036541.1:n.769G>A, NM_001097612.2:c.575G>A, NM_001097612.1:c.575G>A, XM_047428704.1:c.215G>A, XM_047428710.1:c.575G>A, XR_007063066.1:n.721G>A, XP_006711555.1:p.Arg192Gln, NP_001091082.2:p.Arg167Gln, XP_011508210.1:p.Arg167Gln, XP_011508211.1:p.Arg167Gln, XP_016857639.1:p.Arg192Gln, NP_001091081.1:p.Arg192Gln, XP_047284660.1:p.Arg72Gln, XP_047284666.1:p.Arg192Gln

Select item 143915250518.

rs1439152505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145663344 (GRCh38)
1:145771715 (GRCh37)
Canonical SPDI:: NC_000001.11:145663343:G:A
Gene:: GPR89A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.145663344G>A, NW_003871055.3:g.2478757G>A, NC_000001.10:g.145771715C>T, XM_006711492.5:c.925G>A, XM_006711492.4:c.925G>A, XM_006711492.3:c.925G>A, XM_006711492.2:c.925G>A, XM_006711492.1:c.925G>A, NM_001097613.3:c.850G>A, NM_001097613.2:c.850G>A, XM_011509908.3:c.850G>A, XM_011509908.2:c.850G>A, XM_011509908.1:c.850G>A, XM_011509909.3:c.850G>A, XM_011509909.2:c.850G>A, XM_011509909.1:c.850G>A, NR_036541.2:n.1091G>A, NR_036541.1:n.1119G>A, NM_001097612.2:c.925G>A, NM_001097612.1:c.925G>A, XM_047428704.1:c.565G>A, XP_006711555.1:p.Val309Ile, NP_001091082.2:p.Val284Ile, XP_011508210.1:p.Val284Ile, XP_011508211.1:p.Val284Ile, NP_001091081.1:p.Val309Ile, XP_047284660.1:p.Val189Ile

Select item 143636277519.

rs1436362775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:145618402 (GRCh38)
1:145816658 (GRCh37)
Canonical SPDI:: NC_000001.11:145618401:T:C,NC_000001.11:145618401:T:G
Gene:: GPR89A (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.145618402T>C, NC_000001.11:g.145618402T>G, NW_003871055.3:g.2433815T>C, NW_003871055.3:g.2433815T>G, NC_000001.10:g.145816658A>G, NC_000001.10:g.145816658A>C, XM_006711492.5:c.185T>C, XM_006711492.5:c.185T>G, XM_006711492.4:c.185T>C, XM_006711492.4:c.185T>G, XM_006711492.3:c.185T>C, XM_006711492.3:c.185T>G, XM_006711492.2:c.185T>C, XM_006711492.2:c.185T>G, XM_006711492.1:c.185T>C, XM_006711492.1:c.185T>G, NM_001097613.3:c.110T>C, NM_001097613.3:c.110T>G, NM_001097613.2:c.110T>C, NM_001097613.2:c.110T>G, XM_011509908.3:c.110T>C, XM_011509908.3:c.110T>G, XM_011509908.2:c.110T>C, XM_011509908.2:c.110T>G, XM_011509908.1:c.110T>C, XM_011509908.1:c.110T>G, XM_011509909.3:c.110T>C, XM_011509909.3:c.110T>G, XM_011509909.2:c.110T>C, XM_011509909.2:c.110T>G, XM_011509909.1:c.110T>C, XM_011509909.1:c.110T>G, XM_017002150.3:c.185T>C, XM_017002150.3:c.185T>G, XM_017002150.2:c.185T>C, XM_017002150.2:c.185T>G, XM_017002150.1:c.185T>C, XM_017002150.1:c.185T>G, NR_036541.2:n.331T>C, NR_036541.2:n.331T>G, NR_036541.1:n.359T>C, NR_036541.1:n.359T>G, NM_001097612.2:c.185T>C, NM_001097612.2:c.185T>G, NM_001097612.1:c.185T>C, NM_001097612.1:c.185T>G, XM_047428710.1:c.185T>C, XM_047428710.1:c.185T>G, XR_007063066.1:n.331T>C, XR_007063066.1:n.331T>G, XP_006711555.1:p.Ile62Thr, XP_006711555.1:p.Ile62Ser, NP_001091082.2:p.Ile37Thr, NP_001091082.2:p.Ile37Ser, XP_011508210.1:p.Ile37Thr, XP_011508210.1:p.Ile37Ser, XP_011508211.1:p.Ile37Thr, XP_011508211.1:p.Ile37Ser, XP_016857639.1:p.Ile62Thr, XP_016857639.1:p.Ile62Ser, NP_001091081.1:p.Ile62Thr, NP_001091081.1:p.Ile62Ser, XP_047284666.1:p.Ile62Thr, XP_047284666.1:p.Ile62Ser

Select item 142965705920.

rs1429657059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:145669963 (GRCh38)
1:145765096 (GRCh37)
Canonical SPDI:: NC_000001.11:145669962:C:G
Gene:: GPR89A (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.145669963C>G, NW_003871055.3:g.2485376C>G, NG_050630.2:g.43239G>C, NC_000001.10:g.145765096G>C, XM_006711492.5:c.1291C>G, XM_006711492.4:c.1291C>G, XM_006711492.3:c.1291C>G, XM_006711492.2:c.1291C>G, XM_006711492.1:c.1291C>G, NM_001097613.3:c.1216C>G, NM_001097613.2:c.1216C>G, XM_011509908.3:c.1216C>G, XM_011509908.2:c.1216C>G, XM_011509908.1:c.1216C>G, XM_011509909.3:c.1216C>G, XM_011509909.2:c.1216C>G, XM_011509909.1:c.1216C>G, NR_036541.2:n.1457C>G, NR_036541.1:n.1485C>G, NM_001097612.2:c.1291C>G, NM_001097612.1:c.1291C>G, XM_047428704.1:c.931C>G, XP_006711555.1:p.Leu431Val, NP_001091082.2:p.Leu406Val, XP_011508210.1:p.Leu406Val, XP_011508211.1:p.Leu406Val, NP_001091081.1:p.Leu431Val, XP_047284660.1:p.Leu311Val

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