SNP Links for Protein (Select 8922273) - SNP

Links from Protein

Items: 1 to 20 of 140

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Select item 14898707961.

rs1489870796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17477157 (GRCh38)
17:17380471 (GRCh37)
Canonical SPDI:: NC_000017.11:17477156:C:T
Gene:: MED9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17477157C>T, NC_000017.10:g.17380471C>T, NM_018019.3:c.116C>T, NM_018019.2:c.116C>T, NM_138427.1:c.116C>T, NP_060489.1:p.Pro39Leu

Select item 14888163482.

rs1488816348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17491378 (GRCh38)
17:17394692 (GRCh37)
Canonical SPDI:: NC_000017.11:17491377:C:T
Gene:: MED9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.17491378C>T, NC_000017.10:g.17394692C>T, NM_018019.3:c.324C>T, NM_018019.2:c.324C>T

Select item 14642623543.

rs1464262354 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17477193 (GRCh38)
17:17380507 (GRCh37)
Canonical SPDI:: NC_000017.11:17477192:C:T
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17477193C>T, NC_000017.10:g.17380507C>T, NM_018019.3:c.152C>T, NM_018019.2:c.152C>T, NM_138427.1:c.152C>T, NP_060489.1:p.Pro51Leu

Select item 14559182184.

rs1455918218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17477176 (GRCh38)
17:17380490 (GRCh37)
Canonical SPDI:: NC_000017.11:17477175:G:A
Gene:: MED9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.17477176G>A, NC_000017.10:g.17380490G>A, NM_018019.3:c.135G>A, NM_018019.2:c.135G>A, NM_138427.1:c.135G>A

Select item 14506509505.

rs1450650950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17477133 (GRCh38)
17:17380447 (GRCh37)
Canonical SPDI:: NC_000017.11:17477132:C:T
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.001/3 (KOREAN)
HGVS:: NC_000017.11:g.17477133C>T, NC_000017.10:g.17380447C>T, NM_018019.3:c.92C>T, NM_018019.2:c.92C>T, NM_138427.1:c.92C>T, NP_060489.1:p.Pro31Leu

Select item 14486168586.

rs1448616858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17477253 (GRCh38)
17:17380567 (GRCh37)
Canonical SPDI:: NC_000017.11:17477252:A:G
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.17477253A>G, NC_000017.10:g.17380567A>G, NM_018019.3:c.212A>G, NM_018019.2:c.212A>G, NM_138427.1:c.212A>G, NP_060489.1:p.Asn71Ser

Select item 14284120707.

rs1428412070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17491472 (GRCh38)
17:17394786 (GRCh37)
Canonical SPDI:: NC_000017.11:17491471:A:G
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17491472A>G, NC_000017.10:g.17394786A>G, NM_018019.3:c.418A>G, NM_018019.2:c.418A>G, NP_060489.1:p.Met140Val

Select item 14142424458.

rs1414242445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17491367 (GRCh38)
17:17394681 (GRCh37)
Canonical SPDI:: NC_000017.11:17491366:C:T
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17491367C>T, NC_000017.10:g.17394681C>T, NM_018019.3:c.313C>T, NM_018019.2:c.313C>T, NP_060489.1:p.Pro105Ser

Select item 14141973569.

rs1414197356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17477094 (GRCh38)
17:17380408 (GRCh37)
Canonical SPDI:: NC_000017.11:17477093:C:T
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.17477094C>T, NC_000017.10:g.17380408C>T, NM_018019.3:c.53C>T, NM_018019.2:c.53C>T, NM_138427.1:c.53C>T, NP_060489.1:p.Pro18Leu

Select item 141050709010.

rs1410507090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17491350 (GRCh38)
17:17394664 (GRCh37)
Canonical SPDI:: NC_000017.11:17491349:A:G
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.17491350A>G, NC_000017.10:g.17394664A>G, NM_018019.3:c.296A>G, NM_018019.2:c.296A>G, NP_060489.1:p.Lys99Arg

Select item 140275539911.

rs1402755399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:17477124 (GRCh38)
17:17380438 (GRCh37)
Canonical SPDI:: NC_000017.11:17477123:A:G
Gene:: MED9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17477124A>G, NC_000017.10:g.17380438A>G, NM_018019.3:c.83A>G, NM_018019.2:c.83A>G, NM_138427.1:c.83A>G, NP_060489.1:p.Lys28Arg

Select item 139656798612.

rs1396567986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17477046 (GRCh38)
17:17380360 (GRCh37)
Canonical SPDI:: NC_000017.11:17477045:C:T
Gene:: MED9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0./0 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17477046C>T, NC_000017.10:g.17380360C>T, NM_018019.3:c.5C>T, NM_018019.2:c.5C>T, NM_138427.1:c.5C>T, NP_060489.1:p.Ala2Val

Select item 139526491513.

rs1395264915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:17477158 (GRCh38)
17:17380472 (GRCh37)
Canonical SPDI:: NC_000017.11:17477157:T:A
Gene:: MED9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.17477158T>A, NC_000017.10:g.17380472T>A, NM_018019.3:c.117T>A, NM_018019.2:c.117T>A, NM_138427.1:c.117T>A

Select item 138148680014.

rs1381486800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17477057 (GRCh38)
17:17380371 (GRCh37)
Canonical SPDI:: NC_000017.11:17477056:G:A
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.17477057G>A, NC_000017.10:g.17380371G>A, NM_018019.3:c.16G>A, NM_018019.2:c.16G>A, NM_138427.1:c.16G>A, NP_060489.1:p.Val6Met

Select item 137903119815.

rs1379031198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17477184 (GRCh38)
17:17380498 (GRCh37)
Canonical SPDI:: NC_000017.11:17477183:C:T
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.17477184C>T, NC_000017.10:g.17380498C>T, NM_018019.3:c.143C>T, NM_018019.2:c.143C>T, NM_138427.1:c.143C>T, NP_060489.1:p.Ala48Val

Select item 137191540416.

rs1371915404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:17477175 (GRCh38)
17:17380489 (GRCh37)
Canonical SPDI:: NC_000017.11:17477174:A:C
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17477175A>C, NC_000017.10:g.17380489A>C, NM_018019.3:c.134A>C, NM_018019.2:c.134A>C, NM_138427.1:c.134A>C, NP_060489.1:p.Gln45Pro

Select item 136862863817.

rs1368628638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:17477107 (GRCh38)
17:17380421 (GRCh37)
Canonical SPDI:: NC_000017.11:17477106:G:A
Gene:: MED9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17477107G>A, NC_000017.10:g.17380421G>A, NM_018019.3:c.66G>A, NM_018019.2:c.66G>A, NM_138427.1:c.66G>A

Select item 136786854618.

rs1367868546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:17477181 (GRCh38)
17:17380495 (GRCh37)
Canonical SPDI:: NC_000017.11:17477180:C:G,NC_000017.11:17477180:C:T
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17477181C>G, NC_000017.11:g.17477181C>T, NC_000017.10:g.17380495C>G, NC_000017.10:g.17380495C>T, NM_018019.3:c.140C>G, NM_018019.3:c.140C>T, NM_018019.2:c.140C>G, NM_018019.2:c.140C>T, NM_138427.1:c.140C>G, NM_138427.1:c.140C>T, NP_060489.1:p.Pro47Arg, NP_060489.1:p.Pro47Leu

Select item 136486664819.

rs1364866648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:17477201 (GRCh38)
17:17380515 (GRCh37)
Canonical SPDI:: NC_000017.11:17477200:C:T
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17477201C>T, NC_000017.10:g.17380515C>T, NM_018019.3:c.160C>T, NM_018019.2:c.160C>T, NM_138427.1:c.160C>T, NP_060489.1:p.Pro54Ser

Select item 135744684720.

rs1357446847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:17477207 (GRCh38)
17:17380521 (GRCh37)
Canonical SPDI:: NC_000017.11:17477206:C:G
Gene:: MED9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.17477207C>G, NC_000017.10:g.17380521C>G, NM_018019.3:c.166C>G, NM_018019.2:c.166C>G, NM_138427.1:c.166C>G, NP_060489.1:p.Arg56Gly

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