SNP Links for Protein (Select 21618354) - SNP

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Links from Protein

Items: 1 to 20 of 493

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Select item 14908086661.

rs1490808666 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:46759929 (GRCh38)
2:46987068 (GRCh37)
Canonical SPDI:: NC_000002.12:46759928:TTTTTT:TTTTT
Gene:: SOCS5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46759934del, NC_000002.11:g.46987073del, NM_014011.5:c.1404del, NM_014011.4:c.1404del, NM_144949.3:c.1404del, NM_144949.2:c.1404del, NP_054730.1:p.Phe468fs, NP_659198.1:p.Phe468fs

Select item 14872478632.

rs1487247863 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:46758714 (GRCh38)
2:46985853 (GRCh37)
Canonical SPDI:: NC_000002.12:46758713:A:G
Gene:: SOCS5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.46758714A>G, NC_000002.11:g.46985853A>G, NM_014011.5:c.184A>G, NM_014011.4:c.184A>G, NM_144949.3:c.184A>G, NM_144949.2:c.184A>G, NP_054730.1:p.Asn62Asp, NP_659198.1:p.Asn62Asp

Select item 14769623473.

rs1476962347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46758683 (GRCh38)
2:46985822 (GRCh37)
Canonical SPDI:: NC_000002.12:46758682:T:C
Gene:: SOCS5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.46758683T>C, NC_000002.11:g.46985822T>C, NM_014011.5:c.153T>C, NM_014011.4:c.153T>C, NM_144949.3:c.153T>C, NM_144949.2:c.153T>C

Select item 14768323824.

rs1476832382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:46760015 (GRCh38)
2:46987154 (GRCh37)
Canonical SPDI:: NC_000002.12:46760014:C:G
Gene:: SOCS5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46760015C>G, NC_000002.11:g.46987154C>G, NM_014011.5:c.1485C>G, NM_014011.4:c.1485C>G, NM_144949.3:c.1485C>G, NM_144949.2:c.1485C>G, NP_054730.1:p.Cys495Trp, NP_659198.1:p.Cys495Trp

Select item 14760432655.

rs1476043265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46760107 (GRCh38)
2:46987246 (GRCh37)
Canonical SPDI:: NC_000002.12:46760106:G:A
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46760107G>A, NC_000002.11:g.46987246G>A, NM_014011.5:c.1577G>A, NM_014011.4:c.1577G>A, NM_144949.3:c.1577G>A, NM_144949.2:c.1577G>A, NP_054730.1:p.Arg526His, NP_659198.1:p.Arg526His

Select item 14715689166.

rs1471568916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:46759757 (GRCh38)
2:46986896 (GRCh37)
Canonical SPDI:: NC_000002.12:46759756:G:A,NC_000002.12:46759756:G:C
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.46759757G>A, NC_000002.12:g.46759757G>C, NC_000002.11:g.46986896G>A, NC_000002.11:g.46986896G>C, NM_014011.5:c.1227G>A, NM_014011.5:c.1227G>C, NM_014011.4:c.1227G>A, NM_014011.4:c.1227G>C, NM_144949.3:c.1227G>A, NM_144949.3:c.1227G>C, NM_144949.2:c.1227G>A, NM_144949.2:c.1227G>C

Select item 14703955717.

rs1470395571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46760024 (GRCh38)
2:46987163 (GRCh37)
Canonical SPDI:: NC_000002.12:46760023:T:C
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.46760024T>C, NC_000002.11:g.46987163T>C, NM_014011.5:c.1494T>C, NM_014011.4:c.1494T>C, NM_144949.3:c.1494T>C, NM_144949.2:c.1494T>C

Select item 14688057928.

rs1468805792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:46759660 (GRCh38)
2:46986799 (GRCh37)
Canonical SPDI:: NC_000002.12:46759659:C:T
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46759660C>T, NC_000002.11:g.46986799C>T, NM_014011.5:c.1130C>T, NM_014011.4:c.1130C>T, NM_144949.3:c.1130C>T, NM_144949.2:c.1130C>T, NP_054730.1:p.Thr377Ile, NP_659198.1:p.Thr377Ile

Select item 14675875639.

rs1467587563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:46758973 (GRCh38)
2:46986112 (GRCh37)
Canonical SPDI:: NC_000002.12:46758972:G:C
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.46758973G>C, NC_000002.11:g.46986112G>C, NM_014011.5:c.443G>C, NM_014011.4:c.443G>C, NM_144949.3:c.443G>C, NM_144949.2:c.443G>C, NP_054730.1:p.Gly148Ala, NP_659198.1:p.Gly148Ala

Select item 146516001610.

rs1465160016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46759465 (GRCh38)
2:46986604 (GRCh37)
Canonical SPDI:: NC_000002.12:46759464:G:A
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46759465G>A, NC_000002.11:g.46986604G>A, NM_014011.5:c.935G>A, NM_014011.4:c.935G>A, NM_144949.3:c.935G>A, NM_144949.2:c.935G>A, NP_054730.1:p.Gly312Glu, NP_659198.1:p.Gly312Glu

Select item 146510919111.

rs1465109191 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAG>- [Show Flanks]
Chromosome:: 2:46759589 (GRCh38)
2:46986728 (GRCh37)
Canonical SPDI:: NC_000002.12:46759585:CAGACAG:CAG
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46759589_46759592del, NC_000002.11:g.46986728_46986731del, NM_014011.5:c.1059_1062del, NM_014011.4:c.1059_1062del, NM_144949.3:c.1059_1062del, NM_144949.2:c.1059_1062del, NP_054730.1:p.Gln354fs, NP_659198.1:p.Gln354fs

Select item 146424698912.

rs1464246989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:46759540 (GRCh38)
2:46986679 (GRCh37)
Canonical SPDI:: NC_000002.12:46759539:G:A,NC_000002.12:46759539:G:C
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000002.12:g.46759540G>A, NC_000002.12:g.46759540G>C, NC_000002.11:g.46986679G>A, NC_000002.11:g.46986679G>C, NM_014011.5:c.1010G>A, NM_014011.5:c.1010G>C, NM_014011.4:c.1010G>A, NM_014011.4:c.1010G>C, NM_144949.3:c.1010G>A, NM_144949.3:c.1010G>C, NM_144949.2:c.1010G>A, NM_144949.2:c.1010G>C, NP_054730.1:p.Arg337Lys, NP_054730.1:p.Arg337Thr, NP_659198.1:p.Arg337Lys, NP_659198.1:p.Arg337Thr

Select item 146394584613.

rs1463945846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46759343 (GRCh38)
2:46986482 (GRCh37)
Canonical SPDI:: NC_000002.12:46759342:T:C
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46759343T>C, NC_000002.11:g.46986482T>C, NM_014011.5:c.813T>C, NM_014011.4:c.813T>C, NM_144949.3:c.813T>C, NM_144949.2:c.813T>C

Select item 146293240314.

rs1462932403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:46760033 (GRCh38)
2:46987172 (GRCh37)
Canonical SPDI:: NC_000002.12:46760032:T:A,NC_000002.12:46760032:T:G
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
G=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.46760033T>A, NC_000002.12:g.46760033T>G, NC_000002.11:g.46987172T>A, NC_000002.11:g.46987172T>G, NM_014011.5:c.1503T>A, NM_014011.5:c.1503T>G, NM_014011.4:c.1503T>A, NM_014011.4:c.1503T>G, NM_144949.3:c.1503T>A, NM_144949.3:c.1503T>G, NM_144949.2:c.1503T>A, NM_144949.2:c.1503T>G, NP_054730.1:p.Ile501Met, NP_659198.1:p.Ile501Met

Select item 146291702515.

rs1462917025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:46759651 (GRCh38)
2:46986790 (GRCh37)
Canonical SPDI:: NC_000002.12:46759650:T:G
Gene:: SOCS5 (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)
HGVS:: NC_000002.12:g.46759651T>G, NC_000002.11:g.46986790T>G, NM_014011.5:c.1121T>G, NM_014011.4:c.1121T>G, NM_144949.3:c.1121T>G, NM_144949.2:c.1121T>G, NP_054730.1:p.Leu374Arg, NP_659198.1:p.Leu374Arg

Select item 146002997016.

rs1460029970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:46760116 (GRCh38)
2:46987255 (GRCh37)
Canonical SPDI:: NC_000002.12:46760115:A:C
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46760116A>C, NC_000002.11:g.46987255A>C, NM_014011.5:c.1586A>C, NM_014011.4:c.1586A>C, NM_144949.3:c.1586A>C, NM_144949.2:c.1586A>C, NP_054730.1:p.Glu529Ala, NP_659198.1:p.Glu529Ala

Select item 145995565817.

rs1459955658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:46759776 (GRCh38)
2:46986915 (GRCh37)
Canonical SPDI:: NC_000002.12:46759775:T:C
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_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_000002.12:g.46759776T>C, NC_000002.11:g.46986915T>C, NM_014011.5:c.1246T>C, NM_014011.4:c.1246T>C, NM_144949.3:c.1246T>C, NM_144949.2:c.1246T>C, NP_054730.1:p.Ser416Pro, NP_659198.1:p.Ser416Pro

Select item 145837523218.

rs1458375232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:46760018 (GRCh38)
2:46987157 (GRCh37)
Canonical SPDI:: NC_000002.12:46760017:T:G
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.46760018T>G, NC_000002.11:g.46987157T>G, NM_014011.5:c.1488T>G, NM_014011.4:c.1488T>G, NM_144949.3:c.1488T>G, NM_144949.2:c.1488T>G

Select item 145771960819.

rs1457719608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:46759890 (GRCh38)
2:46987029 (GRCh37)
Canonical SPDI:: NC_000002.12:46759889:G:A
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.46759890G>A, NC_000002.11:g.46987029G>A, NM_014011.5:c.1360G>A, NM_014011.4:c.1360G>A, NM_144949.3:c.1360G>A, NM_144949.2:c.1360G>A, NP_054730.1:p.Gly454Arg, NP_659198.1:p.Gly454Arg

Select item 145738459620.

rs1457384596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:46760072 (GRCh38)
2:46987211 (GRCh37)
Canonical SPDI:: NC_000002.12:46760071:A:G
Gene:: SOCS5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.46760072A>G, NC_000002.11:g.46987211A>G, NM_014011.5:c.1542A>G, NM_014011.4:c.1542A>G, NM_144949.3:c.1542A>G, NM_144949.2:c.1542A>G

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