SNP Links for Protein (Select 48717372) - SNP

Links from Protein

Items: 1 to 20 of 126

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Select item 14847496731.

rs1484749673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4733075 (GRCh38)
17:4636370 (GRCh37)
Canonical SPDI:: NC_000017.11:4733074:G:T
Gene:: CXCL16 (Varview), MED11 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.4733075G>T, NC_000017.10:g.4636370G>T, NM_001001683.4:c.242G>T, NM_001001683.3:c.242G>T, NM_001001683.2:c.242G>T, NM_001305000.2:c.*95G>T, NM_001305000.1:c.*95G>T, NP_001001683.1:p.Gly81Val

Select item 14803283972.

rs1480328397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4731904 (GRCh38)
17:4635199 (GRCh37)
Canonical SPDI:: NC_000017.11:4731903:C:T
Gene:: MED11 (Varview)
Functional Consequence:: stop_gained,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.4731904C>T, NC_000017.10:g.4635199C>T, NM_001001683.4:c.214C>T, NM_001001683.3:c.214C>T, NM_001001683.2:c.214C>T, NM_001305000.2:c.214C>T, NM_001305000.1:c.214C>T, NP_001001683.1:p.Gln72Ter, NP_001291929.1:p.Gln72Ter

Select item 14791093253.

rs1479109325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4733074 (GRCh38)
17:4636369 (GRCh37)
Canonical SPDI:: NC_000017.11:4733073:G:A
Gene:: CXCL16 (Varview), MED11 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4733074G>A, NC_000017.10:g.4636369G>A, NM_001001683.4:c.241G>A, NM_001001683.3:c.241G>A, NM_001001683.2:c.241G>A, NM_001305000.2:c.*94G>A, NM_001305000.1:c.*94G>A, NP_001001683.1:p.Gly81Ser

Select item 14786430444.

rs1478643044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:4731784 (GRCh38)
17:4635079 (GRCh37)
Canonical SPDI:: NC_000017.11:4731783:A:C,NC_000017.11:4731783:A:G
Gene:: MED11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4731784A>C, NC_000017.11:g.4731784A>G, NC_000017.10:g.4635079A>C, NC_000017.10:g.4635079A>G, NM_001001683.4:c.94A>C, NM_001001683.4:c.94A>G, NM_001001683.3:c.94A>C, NM_001001683.3:c.94A>G, NM_001001683.2:c.94A>C, NM_001001683.2:c.94A>G, NM_001305000.2:c.94A>C, NM_001305000.2:c.94A>G, NM_001305000.1:c.94A>C, NM_001305000.1:c.94A>G, NP_001001683.1:p.Ile32Leu, NP_001001683.1:p.Ile32Val, NP_001291929.1:p.Ile32Leu, NP_001291929.1:p.Ile32Val

Select item 14744746325.

rs1474474632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4731553 (GRCh38)
17:4634848 (GRCh37)
Canonical SPDI:: NC_000017.11:4731552:G:A
Gene:: MED11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4731553G>A, NC_000017.10:g.4634848G>A, NM_001001683.4:c.64G>A, NM_001001683.3:c.64G>A, NM_001001683.2:c.64G>A, NM_001305000.2:c.64G>A, NM_001305000.1:c.64G>A, NP_001001683.1:p.Gly22Ser, NP_001291929.1:p.Gly22Ser

Select item 14715476226.

rs1471547622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4733145 (GRCh38)
17:4636440 (GRCh37)
Canonical SPDI:: NC_000017.11:4733144:C:T
Gene:: CXCL16 (Varview), MED11 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4733145C>T, NC_000017.10:g.4636440C>T, NM_001001683.4:c.312C>T, NM_001001683.3:c.312C>T, NM_001001683.2:c.312C>T, NM_001305000.2:c.*165C>T, NM_001305000.1:c.*165C>T

Select item 14596319907.

rs1459631990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4731871 (GRCh38)
17:4635166 (GRCh37)
Canonical SPDI:: NC_000017.11:4731870:G:A
Gene:: MED11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4731871G>A, NC_000017.10:g.4635166G>A, NM_001001683.4:c.181G>A, NM_001001683.3:c.181G>A, NM_001001683.2:c.181G>A, NM_001305000.2:c.181G>A, NM_001305000.1:c.181G>A, NP_001001683.1:p.Ala61Thr, NP_001291929.1:p.Ala61Thr

Select item 14578721148.

rs1457872114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4731778 (GRCh38)
17:4635073 (GRCh37)
Canonical SPDI:: NC_000017.11:4731777:A:G
Gene:: MED11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4731778A>G, NC_000017.10:g.4635073A>G, NM_001001683.4:c.88A>G, NM_001001683.3:c.88A>G, NM_001001683.2:c.88A>G, NM_001305000.2:c.88A>G, NM_001305000.1:c.88A>G, NP_001001683.1:p.Thr30Ala, NP_001291929.1:p.Thr30Ala

Select item 14530163849.

rs1453016384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4731882 (GRCh38)
17:4635177 (GRCh37)
Canonical SPDI:: NC_000017.11:4731881:A:G
Gene:: MED11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4731882A>G, NC_000017.10:g.4635177A>G, NM_001001683.4:c.192A>G, NM_001001683.3:c.192A>G, NM_001001683.2:c.192A>G, NM_001305000.2:c.192A>G, NM_001305000.1:c.192A>G

Select item 145242585910.

rs1452425859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4733129 (GRCh38)
17:4636424 (GRCh37)
Canonical SPDI:: NC_000017.11:4733128:A:G
Gene:: CXCL16 (Varview), MED11 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,3_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.4733129A>G, NC_000017.10:g.4636424A>G, NM_001001683.4:c.296A>G, NM_001001683.3:c.296A>G, NM_001001683.2:c.296A>G, NM_001305000.2:c.*149A>G, NM_001305000.1:c.*149A>G, NP_001001683.1:p.Tyr99Cys

Select item 144584449611.

rs1445844496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:4733184 (GRCh38)
17:4636479 (GRCh37)
Canonical SPDI:: NC_000017.11:4733183:C:A,NC_000017.11:4733183:C:T
Gene:: CXCL16 (Varview), MED11 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4733184C>A, NC_000017.11:g.4733184C>T, NC_000017.10:g.4636479C>A, NC_000017.10:g.4636479C>T, NM_001001683.4:c.351C>A, NM_001001683.4:c.351C>T, NM_001001683.3:c.351C>A, NM_001001683.3:c.351C>T, NM_001001683.2:c.351C>A, NM_001001683.2:c.351C>T, NM_001305000.2:c.*204C>A, NM_001305000.2:c.*204C>T, NM_001305000.1:c.*204C>A, NM_001305000.1:c.*204C>T, NP_001001683.1:p.Asn117Lys

Select item 142657241012.

rs1426572410 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:4733181 (GRCh38)
17:4636476 (GRCh37)
Canonical SPDI:: NC_000017.11:4733180:G:
Gene:: CXCL16 (Varview), MED11 (Varview)
Functional Consequence:: frameshift_variant,500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4733181del, NC_000017.10:g.4636476del, NM_001001683.4:c.348del, NM_001001683.3:c.348del, NM_001001683.2:c.348del, NM_001305000.2:c.*201del, NM_001305000.1:c.*201del, NP_001001683.1:p.Asn117fs

Select item 142656122713.

rs1426561227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4731841 (GRCh38)
17:4635136 (GRCh37)
Canonical SPDI:: NC_000017.11:4731840:G:A
Gene:: MED11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4731841G>A, NC_000017.10:g.4635136G>A, NM_001001683.4:c.151G>A, NM_001001683.3:c.151G>A, NM_001001683.2:c.151G>A, NM_001305000.2:c.151G>A, NM_001305000.1:c.151G>A, NP_001001683.1:p.Ala51Thr, NP_001291929.1:p.Ala51Thr

Select item 142615071114.

rs1426150711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:4731496 (GRCh38)
17:4634791 (GRCh37)
Canonical SPDI:: NC_000017.11:4731495:A:G
Gene:: MED11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4731496A>G, NC_000017.10:g.4634791A>G, NM_001001683.4:c.7A>G, NM_001001683.3:c.7A>G, NM_001001683.2:c.7A>G, NM_001305000.2:c.7A>G, NM_001305000.1:c.7A>G, NP_001001683.1:p.Thr3Ala, NP_001291929.1:p.Thr3Ala

Select item 142419372115.

rs1424193721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4731843 (GRCh38)
17:4635138 (GRCh37)
Canonical SPDI:: NC_000017.11:4731842:C:T
Gene:: MED11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4731843C>T, NC_000017.10:g.4635138C>T, NM_001001683.4:c.153C>T, NM_001001683.3:c.153C>T, NM_001001683.2:c.153C>T, NM_001305000.2:c.153C>T, NM_001305000.1:c.153C>T

Select item 139975819416.

rs1399758194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:4733155 (GRCh38)
17:4636450 (GRCh37)
Canonical SPDI:: NC_000017.11:4733154:G:C
Gene:: CXCL16 (Varview), MED11 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4733155G>C, NC_000017.10:g.4636450G>C, NM_001001683.4:c.322G>C, NM_001001683.3:c.322G>C, NM_001001683.2:c.322G>C, NM_001305000.2:c.*175G>C, NM_001305000.1:c.*175G>C, NP_001001683.1:p.Ala108Pro

Select item 138875044317.

rs1388750443 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:4731808 (GRCh38)
17:4635104 (GRCh37)
Canonical SPDI:: NC_000017.11:4731808::G
Gene:: MED11 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4731808_4731809insG, NC_000017.10:g.4635103_4635104insG, NM_001001683.4:c.118_119insG, NM_001001683.3:c.118_119insG, NM_001001683.2:c.118_119insG, NM_001305000.2:c.118_119insG, NM_001305000.1:c.118_119insG, NP_001001683.1:p.Thr40fs, NP_001291929.1:p.Thr40fs

Select item 137229272318.

rs1372292723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:4731793 (GRCh38)
17:4635088 (GRCh37)
Canonical SPDI:: NC_000017.11:4731792:T:A,NC_000017.11:4731792:T:C
Gene:: MED11 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4731793T>A, NC_000017.11:g.4731793T>C, NC_000017.10:g.4635088T>A, NC_000017.10:g.4635088T>C, NM_001001683.4:c.103T>A, NM_001001683.4:c.103T>C, NM_001001683.3:c.103T>A, NM_001001683.3:c.103T>C, NM_001001683.2:c.103T>A, NM_001001683.2:c.103T>C, NM_001305000.2:c.103T>A, NM_001305000.2:c.103T>C, NM_001305000.1:c.103T>A, NM_001305000.1:c.103T>C, NP_001001683.1:p.Leu35Met, NP_001291929.1:p.Leu35Met

Select item 137156189019.

rs1371561890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:4733172 (GRCh38)
17:4636467 (GRCh37)
Canonical SPDI:: NC_000017.11:4733171:G:C
Gene:: CXCL16 (Varview), MED11 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4733172G>C, NC_000017.10:g.4636467G>C, NM_001001683.4:c.339G>C, NM_001001683.3:c.339G>C, NM_001001683.2:c.339G>C, NM_001305000.2:c.*192G>C, NM_001305000.1:c.*192G>C, NP_001001683.1:p.Gln113His

Select item 136853693220.

rs1368536932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4731557 (GRCh38)
17:4634852 (GRCh37)
Canonical SPDI:: NC_000017.11:4731556:C:T
Gene:: MED11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4731557C>T, NC_000017.10:g.4634852C>T, NM_001001683.4:c.68C>T, NM_001001683.3:c.68C>T, NM_001001683.2:c.68C>T, NM_001305000.2:c.68C>T, NM_001305000.1:c.68C>T, NP_001001683.1:p.Ala23Val, NP_001291929.1:p.Ala23Val

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