SNP Links for Protein (Select 153792186) - SNP

Links from Protein

Items: 1 to 20 of 226

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Select item 14843532541.

rs1484353254 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7260936 (GRCh38)
17:7164255 (GRCh37)
Canonical SPDI:: NC_000017.11:7260935:G:T
Gene:: CLDN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.7260936G>T, NC_000017.10:g.7164255G>T, NW_021160020.1:g.16264G>T, NM_001307.6:c.273C>A, NM_001307.5:c.273C>A, NM_001185022.2:c.273C>A, NM_001185022.1:c.273C>A, NM_001185023.2:c.273C>A, NM_001185023.1:c.273C>A

Select item 14787929952.

rs1478792995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7260523 (GRCh38)
17:7163842 (GRCh37)
Canonical SPDI:: NC_000017.11:7260522:G:A
Gene:: CLDN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.7260523G>A, NC_000017.10:g.7163842G>A, NW_021160020.1:g.15851G>A, NM_001307.6:c.487C>T, NM_001307.5:c.487C>T, NM_001185022.2:c.487C>T, NM_001185022.1:c.487C>T, NM_001185023.2:c.402C>T, NM_001185023.1:c.402C>T, NP_001298.3:p.Pro163Ser, NP_001171951.1:p.Pro163Ser

Select item 14783092133.

rs1478309213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7260450 (GRCh38)
17:7163769 (GRCh37)
Canonical SPDI:: NC_000017.11:7260449:G:A
Gene:: CLDN7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7260450G>A, NC_000017.10:g.7163769G>A, NW_021160020.1:g.15778G>A, NM_001307.6:c.560C>T, NM_001307.5:c.560C>T, NM_001185022.2:c.560C>T, NM_001185022.1:c.560C>T, NM_001185023.2:c.*37C>T, NM_001185023.1:c.*37C>T, NP_001298.3:p.Pro187Leu, NP_001171951.1:p.Pro187Leu

Select item 14782076104.

rs1478207610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7260866 (GRCh38)
17:7164185 (GRCh37)
Canonical SPDI:: NC_000017.11:7260865:T:C
Gene:: CLDN7 (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=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7260866T>C, NC_000017.10:g.7164185T>C, NW_021160020.1:g.16194T>C, NM_001307.6:c.343A>G, NM_001307.5:c.343A>G, NM_001185022.2:c.343A>G, NM_001185022.1:c.343A>G, NM_001185023.2:c.343A>G, NM_001185023.1:c.343A>G, NP_001298.3:p.Lys115Glu, NP_001171951.1:p.Lys115Glu, NP_001171952.1:p.Lys115Glu

Select item 14769885085.

rs1476988508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7260895 (GRCh38)
17:7164214 (GRCh37)
Canonical SPDI:: NC_000017.11:7260894:G:C
Gene:: CLDN7 (Varview)
Functional Consequence:: 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.7260895G>C, NC_000017.10:g.7164214G>C, NW_021160020.1:g.16223G>C, NM_001307.6:c.314C>G, NM_001307.5:c.314C>G, NM_001185022.2:c.314C>G, NM_001185022.1:c.314C>G, NM_001185023.2:c.314C>G, NM_001185023.1:c.314C>G, NP_001298.3:p.Thr105Arg, NP_001171951.1:p.Thr105Arg, NP_001171952.1:p.Thr105Arg

Select item 14665221626.

rs1466522162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7261855 (GRCh38)
17:7165174 (GRCh37)
Canonical SPDI:: NC_000017.11:7261854:G:A
Gene:: CLDN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.7261855G>A, NC_000017.10:g.7165174G>A, NW_021160020.1:g.17183G>A, NM_001307.6:c.189C>T, NM_001307.5:c.189C>T, NM_001185022.2:c.189C>T, NM_001185022.1:c.189C>T, NM_001185023.2:c.189C>T, NM_001185023.1:c.189C>T

Select item 14559266917.

rs1455926691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7260686 (GRCh38)
17:7164005 (GRCh37)
Canonical SPDI:: NC_000017.11:7260685:C:T
Gene:: CLDN7 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7260686C>T, NC_000017.10:g.7164005C>T, NW_021160020.1:g.16014C>T, NM_001307.6:c.429G>A, NM_001307.5:c.429G>A, NM_001185022.2:c.429G>A, NM_001185022.1:c.429G>A

Select item 14558673408.

rs1455867340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7261977 (GRCh38)
17:7165296 (GRCh37)
Canonical SPDI:: NC_000017.11:7261976:C:T
Gene:: CLDN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.7261977C>T, NC_000017.10:g.7165296C>T, NW_021160020.1:g.17305C>T, NM_001307.6:c.67G>A, NM_001307.5:c.67G>A, NM_001185022.2:c.67G>A, NM_001185022.1:c.67G>A, NM_001185023.2:c.67G>A, NM_001185023.1:c.67G>A, NP_001298.3:p.Ala23Thr, NP_001171951.1:p.Ala23Thr, NP_001171952.1:p.Ala23Thr

Select item 14536072819.

rs1453607281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7260410 (GRCh38)
17:7163729 (GRCh37)
Canonical SPDI:: NC_000017.11:7260409:A:G
Gene:: CLDN7 (Varview), ELP5 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7260410A>G, NC_000017.10:g.7163729A>G, NW_021160020.1:g.15738A>G, NM_001307.6:c.600T>C, NM_001307.5:c.600T>C, NM_001185022.2:c.600T>C, NM_001185022.1:c.600T>C, NM_001185023.2:c.*77T>C, NM_001185023.1:c.*77T>C

Select item 144821746310.

rs1448217463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7260957 (GRCh38)
17:7164276 (GRCh37)
Canonical SPDI:: NC_000017.11:7260956:C:T
Gene:: CLDN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.7260957C>T, NC_000017.10:g.7164276C>T, NW_021160020.1:g.16285C>T, NM_001307.6:c.252G>A, NM_001307.5:c.252G>A, NM_001185022.2:c.252G>A, NM_001185022.1:c.252G>A, NM_001185023.2:c.252G>A, NM_001185023.1:c.252G>A, NP_001298.3:p.Met84Ile, NP_001171951.1:p.Met84Ile, NP_001171952.1:p.Met84Ile

Select item 144661743211.

rs1446617432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7260890 (GRCh38)
17:7164209 (GRCh37)
Canonical SPDI:: NC_000017.11:7260889:A:G
Gene:: CLDN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7260890A>G, NC_000017.10:g.7164209A>G, NW_021160020.1:g.16218A>G, NM_001307.6:c.319T>C, NM_001307.5:c.319T>C, NM_001185022.2:c.319T>C, NM_001185022.1:c.319T>C, NM_001185023.2:c.319T>C, NM_001185023.1:c.319T>C, NP_001298.3:p.Cys107Arg, NP_001171951.1:p.Cys107Arg, NP_001171952.1:p.Cys107Arg

Select item 144572688712.

rs1445726887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:7262018 (GRCh38)
17:7165337 (GRCh37)
Canonical SPDI:: NC_000017.11:7262017:A:T
Gene:: CLDN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7262018A>T, NC_000017.10:g.7165337A>T, NW_021160020.1:g.17346A>T, NM_001307.6:c.26T>A, NM_001307.5:c.26T>A, NM_001185022.2:c.26T>A, NM_001185022.1:c.26T>A, NM_001185023.2:c.26T>A, NM_001185023.1:c.26T>A, NP_001298.3:p.Leu9Gln, NP_001171951.1:p.Leu9Gln, NP_001171952.1:p.Leu9Gln

Select item 143684904013.

rs1436849040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:7260665 (GRCh38)
17:7163984 (GRCh37)
Canonical SPDI:: NC_000017.11:7260664:G:A,NC_000017.11:7260664:G:T
Gene:: CLDN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000017.11:g.7260665G>A, NC_000017.11:g.7260665G>T, NC_000017.10:g.7163984G>A, NC_000017.10:g.7163984G>T, NW_021160020.1:g.15993G>A, NW_021160020.1:g.15993G>T, NM_001307.6:c.450C>T, NM_001307.6:c.450C>A, NM_001307.5:c.450C>T, NM_001307.5:c.450C>A, NM_001185022.2:c.450C>T, NM_001185022.2:c.450C>A, NM_001185022.1:c.450C>T, NM_001185022.1:c.450C>A, NP_001298.3:p.Asn150Lys, NP_001171951.1:p.Asn150Lys

Select item 143038343614.

rs1430383436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:7260880 (GRCh38)
17:7164199 (GRCh37)
Canonical SPDI:: NC_000017.11:7260879:T:A
Gene:: CLDN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7260880T>A, NC_000017.10:g.7164199T>A, NW_021160020.1:g.16208T>A, NM_001307.6:c.329A>T, NM_001307.5:c.329A>T, NM_001185022.2:c.329A>T, NM_001185022.1:c.329A>T, NM_001185023.2:c.329A>T, NM_001185023.1:c.329A>T, NP_001298.3:p.Asp110Val, NP_001171951.1:p.Asp110Val, NP_001171952.1:p.Asp110Val

Select item 142582300115.

rs1425823001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7260881 (GRCh38)
17:7164200 (GRCh37)
Canonical SPDI:: NC_000017.11:7260880:C:G
Gene:: CLDN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7260881C>G, NC_000017.10:g.7164200C>G, NW_021160020.1:g.16209C>G, NM_001307.6:c.328G>C, NM_001307.5:c.328G>C, NM_001185022.2:c.328G>C, NM_001185022.1:c.328G>C, NM_001185023.2:c.328G>C, NM_001185023.1:c.328G>C, NP_001298.3:p.Asp110His, NP_001171951.1:p.Asp110His, NP_001171952.1:p.Asp110His

Select item 142075285816.

rs1420752858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7260462 (GRCh38)
17:7163781 (GRCh37)
Canonical SPDI:: NC_000017.11:7260461:G:A
Gene:: CLDN7 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_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.7260462G>A, NC_000017.10:g.7163781G>A, NW_021160020.1:g.15790G>A, NM_001307.6:c.548C>T, NM_001307.5:c.548C>T, NM_001185022.2:c.548C>T, NM_001185022.1:c.548C>T, NM_001185023.2:c.*25C>T, NM_001185023.1:c.*25C>T, NP_001298.3:p.Ser183Phe, NP_001171951.1:p.Ser183Phe

Select item 141772611617.

rs1417726116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7260884 (GRCh38)
17:7164203 (GRCh37)
Canonical SPDI:: NC_000017.11:7260883:C:T
Gene:: CLDN7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7260884C>T, NC_000017.10:g.7164203C>T, NW_021160020.1:g.16212C>T, NM_001307.6:c.325G>A, NM_001307.5:c.325G>A, NM_001185022.2:c.325G>A, NM_001185022.1:c.325G>A, NM_001185023.2:c.325G>A, NM_001185023.1:c.325G>A, NP_001298.3:p.Gly109Arg, NP_001171951.1:p.Gly109Arg, NP_001171952.1:p.Gly109Arg

Select item 141250195518.

rs1412501955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7261978 (GRCh38)
17:7165297 (GRCh37)
Canonical SPDI:: NC_000017.11:7261977:C:T
Gene:: CLDN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7261978C>T, NC_000017.10:g.7165297C>T, NW_021160020.1:g.17306C>T, NM_001307.6:c.66G>A, NM_001307.5:c.66G>A, NM_001185022.2:c.66G>A, NM_001185022.1:c.66G>A, NM_001185023.2:c.66G>A, NM_001185023.1:c.66G>A

Select item 141181427819.

rs1411814278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7261963 (GRCh38)
17:7165282 (GRCh37)
Canonical SPDI:: NC_000017.11:7261962:G:A
Gene:: CLDN7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7261963G>A, NC_000017.10:g.7165282G>A, NW_021160020.1:g.17291G>A, NM_001307.6:c.81C>T, NM_001307.5:c.81C>T, NM_001185022.2:c.81C>T, NM_001185022.1:c.81C>T, NM_001185023.2:c.81C>T, NM_001185023.1:c.81C>T

Select item 139814943320.

rs1398149433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7260827 (GRCh38)
17:7164146 (GRCh37)
Canonical SPDI:: NC_000017.11:7260826:C:A
Gene:: CLDN7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.7260827C>A, NC_000017.10:g.7164146C>A, NW_021160020.1:g.16155C>A, NM_001307.6:c.382G>T, NM_001307.5:c.382G>T, NM_001185022.2:c.382G>T, NM_001185022.1:c.382G>T, NM_001185023.2:c.382G>T, NM_001185023.1:c.382G>T, NP_001298.3:p.Val128Leu, NP_001171951.1:p.Val128Leu, NP_001171952.1:p.Val128Leu

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