SNP Links for Protein (Select 45439352) - SNP

Links from Protein

Items: 1 to 20 of 216

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Select item 14833414211.

rs1483341421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:78358637 (GRCh38)
17:76354718 (GRCh37)
Canonical SPDI:: NC_000017.11:78358636:G:C
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78358637G>C, NC_000017.10:g.76354718G>C, NG_016851.1:g.6441C>G, NM_003955.5:c.459C>G, NM_003955.4:c.459C>G, NM_001378933.1:c.459C>G, NM_001378932.1:c.459C>G

Select item 14803674252.

rs1480367425 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:78358797 (GRCh38)
17:76354878 (GRCh37)
Canonical SPDI:: NC_000017.11:78358796:CCCCCC:CCCCC
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,frameshift_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.78358802del, NC_000017.10:g.76354883del, NG_016851.1:g.6281del, NM_003955.5:c.299del, NM_003955.4:c.299del, NM_001378933.1:c.299del, NM_001378932.1:c.299del, NP_003946.3:p.Gly100fs, NP_001365862.1:p.Gly100fs, NP_001365861.1:p.Gly100fs

Select item 14791240413.

rs1479124041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:78358646 (GRCh38)
17:76354727 (GRCh37)
Canonical SPDI:: NC_000017.11:78358645:C:T
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.78358646C>T, NC_000017.10:g.76354727C>T, NG_016851.1:g.6432G>A, NM_003955.5:c.450G>A, NM_003955.4:c.450G>A, NM_001378933.1:c.450G>A, NM_001378932.1:c.450G>A

Select item 14789562474.

rs1478956247 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:78358524 (GRCh38)
17:76354605 (GRCh37)
Canonical SPDI:: NC_000017.11:78358523:T:C
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.78358524T>C, NC_000017.10:g.76354605T>C, NG_016851.1:g.6554A>G, NM_003955.5:c.572A>G, NM_003955.4:c.572A>G, NM_001378933.1:c.572A>G, NM_001378932.1:c.572A>G, NP_003946.3:p.His191Arg, NP_001365862.1:p.His191Arg, NP_001365861.1:p.His191Arg

Select item 14788327545.

rs1478832754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78359043 (GRCh38)
17:76355124 (GRCh37)
Canonical SPDI:: NC_000017.11:78359042:G:A
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.78359043G>A, NC_000017.10:g.76355124G>A, NG_016851.1:g.6035C>T, NM_003955.5:c.53C>T, NM_003955.4:c.53C>T, NM_001378933.1:c.53C>T, NM_001378932.1:c.53C>T, NP_003946.3:p.Thr18Ile, NP_001365862.1:p.Thr18Ile, NP_001365861.1:p.Thr18Ile

Select item 14782062046.

rs1478206204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78358570 (GRCh38)
17:76354651 (GRCh37)
Canonical SPDI:: NC_000017.11:78358569:G:A
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.78358570G>A, NC_000017.10:g.76354651G>A, NG_016851.1:g.6508C>T, NM_003955.5:c.526C>T, NM_003955.4:c.526C>T, NM_001378933.1:c.526C>T, NM_001378932.1:c.526C>T

Select item 14778750397.

rs1477875039 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:78358983 (GRCh38)
17:76355064 (GRCh37)
Canonical SPDI:: NC_000017.11:78358982:A:G
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78358983A>G, NC_000017.10:g.76355064A>G, NG_016851.1:g.6095T>C, NM_003955.5:c.113T>C, NM_003955.4:c.113T>C, NM_001378933.1:c.113T>C, NM_001378932.1:c.113T>C, NP_003946.3:p.Val38Ala, NP_001365862.1:p.Val38Ala, NP_001365861.1:p.Val38Ala

Select item 14689587358.

rs1468958735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:78358503 (GRCh38)
17:76354584 (GRCh37)
Canonical SPDI:: NC_000017.11:78358502:T:C
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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)
HGVS:: NC_000017.11:g.78358503T>C, NC_000017.10:g.76354584T>C, NG_016851.1:g.6575A>G, NM_003955.5:c.593A>G, NM_003955.4:c.593A>G, NM_001378933.1:c.593A>G, NM_001378932.1:c.593A>G, NP_003946.3:p.Asn198Ser, NP_001365862.1:p.Asn198Ser, NP_001365861.1:p.Asn198Ser

Select item 14675860269.

rs1467586026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:78358588 (GRCh38)
17:76354669 (GRCh37)
Canonical SPDI:: NC_000017.11:78358587:C:T
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.78358588C>T, NC_000017.10:g.76354669C>T, NG_016851.1:g.6490G>A, NM_003955.5:c.508G>A, NM_003955.4:c.508G>A, NM_001378933.1:c.508G>A, NM_001378932.1:c.508G>A, NP_003946.3:p.Gly170Arg, NP_001365862.1:p.Gly170Arg, NP_001365861.1:p.Gly170Arg

Select item 146586120310.

rs1465861203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78358929 (GRCh38)
17:76355010 (GRCh37)
Canonical SPDI:: NC_000017.11:78358928:G:A
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.78358929G>A, NC_000017.10:g.76355010G>A, NG_016851.1:g.6149C>T, NM_003955.5:c.167C>T, NM_003955.4:c.167C>T, NM_001378933.1:c.167C>T, NM_001378932.1:c.167C>T, NP_003946.3:p.Ala56Val, NP_001365862.1:p.Ala56Val, NP_001365861.1:p.Ala56Val

Select item 146497454611.

rs1464974546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:78358916 (GRCh38)
17:76354997 (GRCh37)
Canonical SPDI:: NC_000017.11:78358915:G:A,NC_000017.11:78358915:G:C,NC_000017.11:78358915:G:T
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78358916G>A, NC_000017.11:g.78358916G>C, NC_000017.11:g.78358916G>T, NC_000017.10:g.76354997G>A, NC_000017.10:g.76354997G>C, NC_000017.10:g.76354997G>T, NG_016851.1:g.6162C>T, NG_016851.1:g.6162C>G, NG_016851.1:g.6162C>A, NM_003955.5:c.180C>T, NM_003955.5:c.180C>G, NM_003955.5:c.180C>A, NM_003955.4:c.180C>T, NM_003955.4:c.180C>G, NM_003955.4:c.180C>A, NM_001378933.1:c.180C>T, NM_001378933.1:c.180C>G, NM_001378933.1:c.180C>A, NM_001378932.1:c.180C>T, NM_001378932.1:c.180C>G, NM_001378932.1:c.180C>A

Select item 146466525512.

rs1464665255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:78358846 (GRCh38)
17:76354927 (GRCh37)
Canonical SPDI:: NC_000017.11:78358845:C:G,NC_000017.11:78358845:C:T
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78358846C>G, NC_000017.11:g.78358846C>T, NC_000017.10:g.76354927C>G, NC_000017.10:g.76354927C>T, NG_016851.1:g.6232G>C, NG_016851.1:g.6232G>A, NM_003955.5:c.250G>C, NM_003955.5:c.250G>A, NM_003955.4:c.250G>C, NM_003955.4:c.250G>A, NM_001378933.1:c.250G>C, NM_001378933.1:c.250G>A, NM_001378932.1:c.250G>C, NM_001378932.1:c.250G>A, NP_003946.3:p.Val84Leu, NP_003946.3:p.Val84Ile, NP_001365862.1:p.Val84Leu, NP_001365862.1:p.Val84Ile, NP_001365861.1:p.Val84Leu, NP_001365861.1:p.Val84Ile

Select item 145888119113.

rs1458881191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:78358621 (GRCh38)
17:76354702 (GRCh37)
Canonical SPDI:: NC_000017.11:78358620:T:C
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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)
HGVS:: NC_000017.11:g.78358621T>C, NC_000017.10:g.76354702T>C, NG_016851.1:g.6457A>G, NM_003955.5:c.475A>G, NM_003955.4:c.475A>G, NM_001378933.1:c.475A>G, NM_001378932.1:c.475A>G, NP_003946.3:p.Ser159Gly, NP_001365862.1:p.Ser159Gly, NP_001365861.1:p.Ser159Gly

Select item 145843113414.

rs1458431134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78358885 (GRCh38)
17:76354966 (GRCh37)
Canonical SPDI:: NC_000017.11:78358884:G:A
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.78358885G>A, NC_000017.10:g.76354966G>A, NG_016851.1:g.6193C>T, NM_003955.5:c.211C>T, NM_003955.4:c.211C>T, NM_001378933.1:c.211C>T, NM_001378932.1:c.211C>T, NP_003946.3:p.Arg71Cys, NP_001365862.1:p.Arg71Cys, NP_001365861.1:p.Arg71Cys

Select item 145072275815.

rs1450722758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:78358510 (GRCh38)
17:76354591 (GRCh37)
Canonical SPDI:: NC_000017.11:78358509:T:C
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78358510T>C, NC_000017.10:g.76354591T>C, NG_016851.1:g.6568A>G, NM_003955.5:c.586A>G, NM_003955.4:c.586A>G, NM_001378933.1:c.586A>G, NM_001378932.1:c.586A>G, NP_003946.3:p.Thr196Ala, NP_001365862.1:p.Thr196Ala, NP_001365861.1:p.Thr196Ala

Select item 145065147816.

rs1450651478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78358947 (GRCh38)
17:76355028 (GRCh37)
Canonical SPDI:: NC_000017.11:78358946:G:A
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78358947G>A, NC_000017.10:g.76355028G>A, NG_016851.1:g.6131C>T, NM_003955.5:c.149C>T, NM_003955.4:c.149C>T, NM_001378933.1:c.149C>T, NM_001378932.1:c.149C>T, NP_003946.3:p.Ala50Val, NP_001365862.1:p.Ala50Val, NP_001365861.1:p.Ala50Val

Select item 144705537617.

rs1447055376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78358865 (GRCh38)
17:76354946 (GRCh37)
Canonical SPDI:: NC_000017.11:78358864:G:A
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000017.11:g.78358865G>A, NC_000017.10:g.76354946G>A, NG_016851.1:g.6213C>T, NM_003955.5:c.231C>T, NM_003955.4:c.231C>T, NM_001378933.1:c.231C>T, NM_001378932.1:c.231C>T

Select item 144428093118.

rs1444280931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:78358965 (GRCh38)
17:76355046 (GRCh37)
Canonical SPDI:: NC_000017.11:78358964:C:T
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000017.11:g.78358965C>T, NC_000017.10:g.76355046C>T, NG_016851.1:g.6113G>A, NM_003955.5:c.131G>A, NM_003955.4:c.131G>A, NM_001378933.1:c.131G>A, NM_001378932.1:c.131G>A, NP_003946.3:p.Ser44Asn, NP_001365862.1:p.Ser44Asn, NP_001365861.1:p.Ser44Asn

Select item 143421102719.

rs1434211027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78358750 (GRCh38)
17:76354831 (GRCh37)
Canonical SPDI:: NC_000017.11:78358749:G:A
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78358750G>A, NC_000017.10:g.76354831G>A, NG_016851.1:g.6328C>T, NM_003955.5:c.346C>T, NM_003955.4:c.346C>T, NM_001378933.1:c.346C>T, NM_001378932.1:c.346C>T, NP_003946.3:p.Arg116Cys, NP_001365862.1:p.Arg116Cys, NP_001365861.1:p.Arg116Cys

Select item 141828355220.

rs1418283552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:78359054 (GRCh38)
17:76355135 (GRCh37)
Canonical SPDI:: NC_000017.11:78359053:G:A
Gene:: SOCS3 (Varview), SOCS3-DT (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.78359054G>A, NC_000017.10:g.76355135G>A, NG_016851.1:g.6024C>T, NM_003955.5:c.42C>T, NM_003955.4:c.42C>T, NM_001378933.1:c.42C>T, NM_001378932.1:c.42C>T

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