SNP Links for Protein (Select 374088036) - SNP

Links from Protein

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Select item 14902781981.

rs1490278198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83598671 (GRCh38)
4:84519824 (GRCh37)
Canonical SPDI:: NC_000004.12:83598670:A:G
Gene:: GPAT3 (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)
HGVS:: NC_000004.12:g.83598671A>G, NC_000004.11:g.84519824A>G, NM_032717.5:c.1153A>G, NM_032717.4:c.1153A>G, XM_011532384.3:c.919A>G, XM_011532384.2:c.919A>G, XM_011532384.1:c.919A>G, XM_017008780.2:c.1429A>G, XM_017008780.1:c.1429A>G, XM_017008781.2:c.1153A>G, XM_017008781.1:c.1153A>G, NM_001256422.1:c.1153A>G, NM_001256421.1:c.1153A>G, NP_116106.2:p.Asn385Asp, XP_011530686.1:p.Asn307Asp, XP_016864269.1:p.Asn477Asp, XP_016864270.1:p.Asn385Asp, NP_001243351.1:p.Asn385Asp, NP_001243350.1:p.Asn385Asp

Select item 14876551272.

rs1487655127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83587269 (GRCh38)
4:84508422 (GRCh37)
Canonical SPDI:: NC_000004.12:83587268:T:C
Gene:: GPAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.83587269T>C, NC_000004.11:g.84508422T>C, NM_032717.5:c.494T>C, NM_032717.4:c.494T>C, XM_011532384.3:c.260T>C, XM_011532384.2:c.260T>C, XM_011532384.1:c.260T>C, XM_017008780.2:c.770T>C, XM_017008780.1:c.770T>C, XM_017008781.2:c.494T>C, XM_017008781.1:c.494T>C, NM_001256422.1:c.494T>C, NM_001256421.1:c.494T>C, NP_116106.2:p.Phe165Ser, XP_011530686.1:p.Phe87Ser, XP_016864269.1:p.Phe257Ser, XP_016864270.1:p.Phe165Ser, NP_001243351.1:p.Phe165Ser, NP_001243350.1:p.Phe165Ser

Select item 14870484413.

rs1487048441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83536727 (GRCh38)
4:84457880 (GRCh37)
Canonical SPDI:: NC_000004.12:83536726:C:T
Gene:: GPAT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83536727C>T, NC_000004.11:g.84457880C>T, NM_032717.5:c.105C>T, NM_032717.4:c.105C>T, XM_017008780.2:c.381C>T, XM_017008780.1:c.381C>T, XM_017008781.2:c.105C>T, XM_017008781.1:c.105C>T, NM_001256422.1:c.105C>T, NM_001256421.1:c.105C>T

Select item 14853947234.

rs1485394723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:83590230 (GRCh38)
4:84511383 (GRCh37)
Canonical SPDI:: NC_000004.12:83590229:G:T
Gene:: GPAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83590230G>T, NC_000004.11:g.84511383G>T, NM_032717.5:c.676G>T, NM_032717.4:c.676G>T, XM_011532384.3:c.442G>T, XM_011532384.2:c.442G>T, XM_011532384.1:c.442G>T, XM_017008780.2:c.952G>T, XM_017008780.1:c.952G>T, XM_017008781.2:c.676G>T, XM_017008781.1:c.676G>T, NM_001256422.1:c.676G>T, NM_001256421.1:c.676G>T, NP_116106.2:p.Val226Phe, XP_011530686.1:p.Val148Phe, XP_016864269.1:p.Val318Phe, XP_016864270.1:p.Val226Phe, NP_001243351.1:p.Val226Phe, NP_001243350.1:p.Val226Phe

Select item 14846258245.

rs1484625824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:83598663 (GRCh38)
4:84519816 (GRCh37)
Canonical SPDI:: NC_000004.12:83598662:A:C
Gene:: GPAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.83598663A>C, NC_000004.11:g.84519816A>C, NM_032717.5:c.1145A>C, NM_032717.4:c.1145A>C, XM_011532384.3:c.911A>C, XM_011532384.2:c.911A>C, XM_011532384.1:c.911A>C, XM_017008780.2:c.1421A>C, XM_017008780.1:c.1421A>C, XM_017008781.2:c.1145A>C, XM_017008781.1:c.1145A>C, NM_001256422.1:c.1145A>C, NM_001256421.1:c.1145A>C, NP_116106.2:p.Gln382Pro, XP_011530686.1:p.Gln304Pro, XP_016864269.1:p.Gln474Pro, XP_016864270.1:p.Gln382Pro, NP_001243351.1:p.Gln382Pro, NP_001243350.1:p.Gln382Pro

Select item 14780955066.

rs1478095506 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 4:83597448 (GRCh38)
4:84518601 (GRCh37)
Canonical SPDI:: NC_000004.12:83597447:C:
Gene:: GPAT3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
-=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83597448del, NC_000004.11:g.84518601del, NM_032717.5:c.929del, NM_032717.4:c.929del, XM_011532384.3:c.695del, XM_011532384.2:c.695del, XM_011532384.1:c.695del, XM_017008780.2:c.1205del, XM_017008780.1:c.1205del, XM_017008781.2:c.929del, XM_017008781.1:c.929del, NM_001256422.1:c.929del, NM_001256421.1:c.929del, NP_116106.2:p.Thr310fs, XP_011530686.1:p.Thr232fs, XP_016864269.1:p.Thr402fs, XP_016864270.1:p.Thr310fs, NP_001243351.1:p.Thr310fs, NP_001243350.1:p.Thr310fs

Select item 14758197917.

rs1475819791 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:83604677 (GRCh38)
4:84525830 (GRCh37)
Canonical SPDI:: NC_000004.12:83604676:A:C
Gene:: GPAT3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000004.12:g.83604677A>C, NC_000004.11:g.84525830A>C, NM_032717.5:c.1215A>C, NM_032717.4:c.1215A>C, XM_011532384.3:c.981A>C, XM_011532384.2:c.981A>C, XM_011532384.1:c.981A>C, XM_017008780.2:c.1491A>C, XM_017008780.1:c.1491A>C, XM_017008781.2:c.1215A>C, XM_017008781.1:c.1215A>C, NM_001256422.1:c.1215A>C, NM_001256421.1:c.1215A>C

Select item 14742214728.

rs1474221472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:83536703 (GRCh38)
4:84457856 (GRCh37)
Canonical SPDI:: NC_000004.12:83536702:C:A,NC_000004.12:83536702:C:G
Gene:: GPAT3 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83536703C>A, NC_000004.12:g.83536703C>G, NC_000004.11:g.84457856C>A, NC_000004.11:g.84457856C>G, NM_032717.5:c.81C>A, NM_032717.5:c.81C>G, NM_032717.4:c.81C>A, NM_032717.4:c.81C>G, XM_017008780.2:c.357C>A, XM_017008780.2:c.357C>G, XM_017008780.1:c.357C>A, XM_017008780.1:c.357C>G, XM_017008781.2:c.81C>A, XM_017008781.2:c.81C>G, XM_017008781.1:c.81C>A, XM_017008781.1:c.81C>G, NM_001256422.1:c.81C>A, NM_001256422.1:c.81C>G, NM_001256421.1:c.81C>A, NM_001256421.1:c.81C>G

Select item 14683521549.

rs1468352154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:83604732 (GRCh38)
4:84525885 (GRCh37)
Canonical SPDI:: NC_000004.12:83604731:A:T
Gene:: GPAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83604732A>T, NC_000004.11:g.84525885A>T, NM_032717.5:c.1270A>T, NM_032717.4:c.1270A>T, XM_011532384.3:c.1036A>T, XM_011532384.2:c.1036A>T, XM_011532384.1:c.1036A>T, XM_017008780.2:c.1546A>T, XM_017008780.1:c.1546A>T, XM_017008781.2:c.1270A>T, XM_017008781.1:c.1270A>T, NM_001256422.1:c.1270A>T, NM_001256421.1:c.1270A>T, NP_116106.2:p.Ser424Cys, XP_011530686.1:p.Ser346Cys, XP_016864269.1:p.Ser516Cys, XP_016864270.1:p.Ser424Cys, NP_001243351.1:p.Ser424Cys, NP_001243350.1:p.Ser424Cys

Select item 146605344710.

rs1466053447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:83588243 (GRCh38)
4:84509396 (GRCh37)
Canonical SPDI:: NC_000004.12:83588242:G:C
Gene:: GPAT3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83588243G>C, NC_000004.11:g.84509396G>C, NM_032717.5:c.588G>C, NM_032717.4:c.588G>C, XM_011532384.3:c.354G>C, XM_011532384.2:c.354G>C, XM_011532384.1:c.354G>C, XM_017008780.2:c.864G>C, XM_017008780.1:c.864G>C, XM_017008781.2:c.588G>C, XM_017008781.1:c.588G>C, NM_001256422.1:c.588G>C, NM_001256421.1:c.588G>C

Select item 146582184711.

rs1465821847 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83581694 (GRCh38)
4:84502847 (GRCh37)
Canonical SPDI:: NC_000004.12:83581693:A:G
Gene:: GPAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83581694A>G, NC_000004.11:g.84502847A>G, NM_032717.5:c.341A>G, NM_032717.4:c.341A>G, XM_011532384.3:c.107A>G, XM_011532384.2:c.107A>G, XM_011532384.1:c.107A>G, XM_017008780.2:c.617A>G, XM_017008780.1:c.617A>G, XM_017008781.2:c.341A>G, XM_017008781.1:c.341A>G, NM_001256422.1:c.341A>G, NM_001256421.1:c.341A>G, NP_116106.2:p.Gln114Arg, XP_011530686.1:p.Gln36Arg, XP_016864269.1:p.Gln206Arg, XP_016864270.1:p.Gln114Arg, NP_001243351.1:p.Gln114Arg, NP_001243350.1:p.Gln114Arg

Select item 146501081212.

rs1465010812 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83544592 (GRCh38)
4:84465745 (GRCh37)
Canonical SPDI:: NC_000004.12:83544591:T:C
Gene:: GPAT3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83544592T>C, NC_000004.11:g.84465745T>C, NM_032717.5:c.198T>C, NM_032717.4:c.198T>C, XM_011532384.3:c.-37T>C, XM_011532384.2:c.-37T>C, XM_011532384.1:c.-37T>C, XM_017008780.2:c.474T>C, XM_017008780.1:c.474T>C, XM_017008781.2:c.198T>C, XM_017008781.1:c.198T>C, NM_001256422.1:c.198T>C, NM_001256421.1:c.198T>C

Select item 146458047313.

rs1464580473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83594874 (GRCh38)
4:84516027 (GRCh37)
Canonical SPDI:: NC_000004.12:83594873:A:G
Gene:: GPAT3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0109/20 (Korea1K)
HGVS:: NC_000004.12:g.83594874A>G, NC_000004.11:g.84516027A>G, NM_032717.5:c.768A>G, NM_032717.4:c.768A>G, XM_011532384.3:c.534A>G, XM_011532384.2:c.534A>G, XM_011532384.1:c.534A>G, XM_017008780.2:c.1044A>G, XM_017008780.1:c.1044A>G, XM_017008781.2:c.768A>G, XM_017008781.1:c.768A>G, NM_001256422.1:c.768A>G, NM_001256421.1:c.768A>G

Select item 146345073914.

rs1463450739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83536643 (GRCh38)
4:84457796 (GRCh37)
Canonical SPDI:: NC_000004.12:83536642:C:T
Gene:: GPAT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000051/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83536643C>T, NC_000004.11:g.84457796C>T, NM_032717.5:c.21C>T, NM_032717.4:c.21C>T, XM_017008780.2:c.297C>T, XM_017008780.1:c.297C>T, XM_017008781.2:c.21C>T, XM_017008781.1:c.21C>T, NM_001256422.1:c.21C>T, NM_001256421.1:c.21C>T

Select item 145904708115.

rs1459047081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:83594846 (GRCh38)
4:84515999 (GRCh37)
Canonical SPDI:: NC_000004.12:83594845:T:C
Gene:: GPAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83594846T>C, NC_000004.11:g.84515999T>C, NM_032717.5:c.740T>C, NM_032717.4:c.740T>C, XM_011532384.3:c.506T>C, XM_011532384.2:c.506T>C, XM_011532384.1:c.506T>C, XM_017008780.2:c.1016T>C, XM_017008780.1:c.1016T>C, XM_017008781.2:c.740T>C, XM_017008781.1:c.740T>C, NM_001256422.1:c.740T>C, NM_001256421.1:c.740T>C, NP_116106.2:p.Val247Ala, XP_011530686.1:p.Val169Ala, XP_016864269.1:p.Val339Ala, XP_016864270.1:p.Val247Ala, NP_001243351.1:p.Val247Ala, NP_001243350.1:p.Val247Ala

Select item 145887753416.

rs1458877534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:83581651 (GRCh38)
4:84502804 (GRCh37)
Canonical SPDI:: NC_000004.12:83581650:T:G
Gene:: GPAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83581651T>G, NC_000004.11:g.84502804T>G, NM_032717.5:c.298T>G, NM_032717.4:c.298T>G, XM_011532384.3:c.64T>G, XM_011532384.2:c.64T>G, XM_011532384.1:c.64T>G, XM_017008780.2:c.574T>G, XM_017008780.1:c.574T>G, XM_017008781.2:c.298T>G, XM_017008781.1:c.298T>G, NM_001256422.1:c.298T>G, NM_001256421.1:c.298T>G, NP_116106.2:p.Ser100Ala, XP_011530686.1:p.Ser22Ala, XP_016864269.1:p.Ser192Ala, XP_016864270.1:p.Ser100Ala, NP_001243351.1:p.Ser100Ala, NP_001243350.1:p.Ser100Ala

Select item 145193243417.

rs1451932434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:83598098 (GRCh38)
4:84519251 (GRCh37)
Canonical SPDI:: NC_000004.12:83598097:C:T
Gene:: GPAT3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83598098C>T, NC_000004.11:g.84519251C>T, NM_032717.5:c.1044C>T, NM_032717.4:c.1044C>T, XM_011532384.3:c.810C>T, XM_011532384.2:c.810C>T, XM_011532384.1:c.810C>T, XM_017008780.2:c.1320C>T, XM_017008780.1:c.1320C>T, XM_017008781.2:c.1044C>T, XM_017008781.1:c.1044C>T, NM_001256422.1:c.1044C>T, NM_001256421.1:c.1044C>T

Select item 145096997918.

rs1450969979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:83536680 (GRCh38)
4:84457833 (GRCh37)
Canonical SPDI:: NC_000004.12:83536679:G:C
Gene:: GPAT3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83536680G>C, NC_000004.11:g.84457833G>C, NM_032717.5:c.58G>C, NM_032717.4:c.58G>C, XM_017008780.2:c.334G>C, XM_017008780.1:c.334G>C, XM_017008781.2:c.58G>C, XM_017008781.1:c.58G>C, NM_001256422.1:c.58G>C, NM_001256421.1:c.58G>C, NP_116106.2:p.Gly20Arg, XP_016864269.1:p.Gly112Arg, XP_016864270.1:p.Gly20Arg, NP_001243351.1:p.Gly20Arg, NP_001243350.1:p.Gly20Arg

Select item 144191742619.

rs1441917426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:83604767 (GRCh38)
4:84525920 (GRCh37)
Canonical SPDI:: NC_000004.12:83604766:A:G
Gene:: GPAT3 (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.83604767A>G, NC_000004.11:g.84525920A>G, NM_032717.5:c.1305A>G, NM_032717.4:c.1305A>G, XM_011532384.3:c.1071A>G, XM_011532384.2:c.1071A>G, XM_011532384.1:c.1071A>G, XM_017008780.2:c.1581A>G, XM_017008780.1:c.1581A>G, XM_017008781.2:c.1305A>G, XM_017008781.1:c.1305A>G, NM_001256422.1:c.1305A>G, NM_001256421.1:c.1305A>G

Select item 144111275320.

rs1441112753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:83581586 (GRCh38)
4:84502739 (GRCh37)
Canonical SPDI:: NC_000004.12:83581585:C:A
Gene:: GPAT3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.83581586C>A, NC_000004.11:g.84502739C>A, NM_032717.5:c.233C>A, NM_032717.4:c.233C>A, XM_011532384.3:c.-2C>A, XM_011532384.2:c.-2C>A, XM_011532384.1:c.-2C>A, XM_017008780.2:c.509C>A, XM_017008780.1:c.509C>A, XM_017008781.2:c.233C>A, XM_017008781.1:c.233C>A, NM_001256422.1:c.233C>A, NM_001256421.1:c.233C>A, NP_116106.2:p.Pro78His, XP_016864269.1:p.Pro170His, XP_016864270.1:p.Pro78His, NP_001243351.1:p.Pro78His, NP_001243350.1:p.Pro78His

dbSNP

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