SNP Links for Protein (Select 4502719) - SNP

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Links from Protein

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Select item 14904018081.

rs1490401808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:83602499 (GRCh38)
16:83636104 (GRCh37)
Canonical SPDI:: NC_000016.10:83602498:A:G
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.83602499A>G, NC_000016.9:g.83636104A>G, NG_052819.1:g.980706A>G, NM_001257.5:c.1006A>G, NM_001257.4:c.1006A>G, NM_001220488.2:c.1147A>G, NM_001220488.1:c.1147A>G, NM_001220489.2:c.889A>G, NM_001220489.1:c.889A>G, NM_001220490.2:c.244A>G, NM_001220490.1:c.244A>G, XM_011522804.4:c.703A>G, XM_011522804.3:c.703A>G, XM_011522804.2:c.703A>G, XM_011522804.1:c.703A>G, NP_001248.1:p.Met336Val, NP_001207417.1:p.Met383Val, NP_001207418.1:p.Met297Val, NP_001207419.1:p.Met82Val, XP_011521106.1:p.Met235Val

Select item 14884936342.

rs1488493634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83217366 (GRCh38)
16:83250971 (GRCh37)
Canonical SPDI:: NC_000016.10:83217365:G:A
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.83217366G>A, NC_000016.9:g.83250971G>A, NG_052819.1:g.595573G>A, NM_001257.5:c.505G>A, NM_001257.4:c.505G>A, NM_001220488.2:c.646G>A, NM_001220488.1:c.646G>A, NM_001220489.2:c.388G>A, NM_001220489.1:c.388G>A, NM_001220490.2:c.-258G>A, NM_001220490.1:c.-258G>A, XM_011522804.4:c.202G>A, XM_011522804.3:c.202G>A, XM_011522804.2:c.202G>A, XM_011522804.1:c.202G>A, XM_017022848.3:c.646G>A, XM_017022848.2:c.646G>A, XM_017022848.1:c.646G>A, NP_001248.1:p.Glu169Lys, NP_001207417.1:p.Glu216Lys, NP_001207418.1:p.Glu130Lys, XP_011521106.1:p.Glu68Lys, XP_016878337.1:p.Glu216Lys

Select item 14868851823.

rs1486885182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:82858430 (GRCh38)
16:82892035 (GRCh37)
Canonical SPDI:: NC_000016.10:82858429:C:A,NC_000016.10:82858429:C:T
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.82858430C>A, NC_000016.10:g.82858430C>T, NC_000016.9:g.82892035C>A, NC_000016.9:g.82892035C>T, NG_052819.1:g.236637C>A, NG_052819.1:g.236637C>T, NM_001257.5:c.114C>A, NM_001257.5:c.114C>T, NM_001257.4:c.114C>A, NM_001257.4:c.114C>T, NM_001220488.2:c.255C>A, NM_001220488.2:c.255C>T, NM_001220488.1:c.255C>A, NM_001220488.1:c.255C>T, NM_001220489.2:c.114C>A, NM_001220489.2:c.114C>T, NM_001220489.1:c.114C>A, NM_001220489.1:c.114C>T, NM_001220490.2:c.-440C>A, NM_001220490.2:c.-440C>T, NM_001220490.1:c.-440C>A, NM_001220490.1:c.-440C>T, NM_001220491.2:c.114C>A, NM_001220491.2:c.114C>T, NM_001220491.1:c.114C>A, NM_001220491.1:c.114C>T, NM_001220492.2:c.114C>A, NM_001220492.2:c.114C>T, NM_001220492.1:c.114C>A, NM_001220492.1:c.114C>T, XM_017022848.3:c.255C>A, XM_017022848.3:c.255C>T, XM_017022848.2:c.255C>A, XM_017022848.2:c.255C>T, XM_017022848.1:c.255C>A, XM_017022848.1:c.255C>T, XM_017022849.3:c.255C>A, XM_017022849.3:c.255C>T, XM_017022849.2:c.255C>A, XM_017022849.2:c.255C>T, XM_017022849.1:c.255C>A, XM_017022849.1:c.255C>T

Select item 14867940664.

rs1486794066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 16:83125451 (GRCh38)
16:83159056 (GRCh37)
Canonical SPDI:: NC_000016.10:83125450:A:C,NC_000016.10:83125450:A:T
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83125451A>C, NC_000016.10:g.83125451A>T, NC_000016.9:g.83159056A>C, NC_000016.9:g.83159056A>T, NG_052819.1:g.503658A>C, NG_052819.1:g.503658A>T, NM_001257.5:c.433A>C, NM_001257.5:c.433A>T, NM_001257.4:c.433A>C, NM_001257.4:c.433A>T, NM_001220488.2:c.574A>C, NM_001220488.2:c.574A>T, NM_001220488.1:c.574A>C, NM_001220488.1:c.574A>T, NM_001220490.2:c.-330A>C, NM_001220490.2:c.-330A>T, NM_001220490.1:c.-330A>C, NM_001220490.1:c.-330A>T, NM_001220491.2:c.433A>C, NM_001220491.2:c.433A>T, NM_001220491.1:c.433A>C, NM_001220491.1:c.433A>T, NM_001220492.2:c.433A>C, NM_001220492.2:c.433A>T, NM_001220492.1:c.433A>C, NM_001220492.1:c.433A>T, XM_011522804.4:c.130A>C, XM_011522804.4:c.130A>T, XM_011522804.3:c.130A>C, XM_011522804.3:c.130A>T, XM_011522804.2:c.130A>C, XM_011522804.2:c.130A>T, XM_011522804.1:c.130A>C, XM_011522804.1:c.130A>T, XM_017022848.3:c.574A>C, XM_017022848.3:c.574A>T, XM_017022848.2:c.574A>C, XM_017022848.2:c.574A>T, XM_017022848.1:c.574A>C, XM_017022848.1:c.574A>T, XM_017022849.3:c.574A>C, XM_017022849.3:c.574A>T, XM_017022849.2:c.574A>C, XM_017022849.2:c.574A>T, XM_017022849.1:c.574A>C, XM_017022849.1:c.574A>T, NP_001248.1:p.Ile145Leu, NP_001248.1:p.Ile145Phe, NP_001207417.1:p.Ile192Leu, NP_001207417.1:p.Ile192Phe, NP_001207420.1:p.Ile145Leu, NP_001207420.1:p.Ile145Phe, NP_001207421.1:p.Ile145Leu, NP_001207421.1:p.Ile145Phe, XP_011521106.1:p.Ile44Leu, XP_011521106.1:p.Ile44Phe, XP_016878337.1:p.Ile192Leu, XP_016878337.1:p.Ile192Phe, XP_016878338.1:p.Ile192Leu, XP_016878338.1:p.Ile192Phe

Select item 14862752225.

rs1486275222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:83486575 (GRCh38)
16:83520180 (GRCh37)
Canonical SPDI:: NC_000016.10:83486574:C:G,NC_000016.10:83486574:C:T
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83486575C>G, NC_000016.10:g.83486575C>T, NC_000016.9:g.83520180C>G, NC_000016.9:g.83520180C>T, NG_052819.1:g.864782C>G, NG_052819.1:g.864782C>T, NM_001257.5:c.880C>G, NM_001257.5:c.880C>T, NM_001257.4:c.880C>G, NM_001257.4:c.880C>T, NM_001220488.2:c.1021C>G, NM_001220488.2:c.1021C>T, NM_001220488.1:c.1021C>G, NM_001220488.1:c.1021C>T, NM_001220489.2:c.763C>G, NM_001220489.2:c.763C>T, NM_001220489.1:c.763C>G, NM_001220489.1:c.763C>T, NM_001220490.2:c.118C>G, NM_001220490.2:c.118C>T, NM_001220490.1:c.118C>G, NM_001220490.1:c.118C>T, XM_011522804.4:c.577C>G, XM_011522804.4:c.577C>T, XM_011522804.3:c.577C>G, XM_011522804.3:c.577C>T, XM_011522804.2:c.577C>G, XM_011522804.2:c.577C>T, XM_011522804.1:c.577C>G, XM_011522804.1:c.577C>T, XM_017022848.3:c.1021C>G, XM_017022848.3:c.1021C>T, XM_017022848.2:c.1021C>G, XM_017022848.2:c.1021C>T, XM_017022848.1:c.1021C>G, XM_017022848.1:c.1021C>T, NP_001248.1:p.Pro294Ala, NP_001248.1:p.Pro294Ser, NP_001207417.1:p.Pro341Ala, NP_001207417.1:p.Pro341Ser, NP_001207418.1:p.Pro255Ala, NP_001207418.1:p.Pro255Ser, NP_001207419.1:p.Pro40Ala, NP_001207419.1:p.Pro40Ser, XP_011521106.1:p.Pro193Ala, XP_011521106.1:p.Pro193Ser, XP_016878337.1:p.Pro341Ala, XP_016878337.1:p.Pro341Ser

Select item 14802186936.

rs1480218693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83486515 (GRCh38)
16:83520120 (GRCh37)
Canonical SPDI:: NC_000016.10:83486514:G:A
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.83486515G>A, NC_000016.9:g.83520120G>A, NG_052819.1:g.864722G>A, NM_001257.5:c.820G>A, NM_001257.4:c.820G>A, NM_001220488.2:c.961G>A, NM_001220488.1:c.961G>A, NM_001220489.2:c.703G>A, NM_001220489.1:c.703G>A, NM_001220490.2:c.58G>A, NM_001220490.1:c.58G>A, XM_011522804.4:c.517G>A, XM_011522804.3:c.517G>A, XM_011522804.2:c.517G>A, XM_011522804.1:c.517G>A, XM_017022848.3:c.961G>A, XM_017022848.2:c.961G>A, XM_017022848.1:c.961G>A, NP_001248.1:p.Asp274Asn, NP_001207417.1:p.Asp321Asn, NP_001207418.1:p.Asp235Asn, NP_001207419.1:p.Asp20Asn, XP_011521106.1:p.Asp173Asn, XP_016878337.1:p.Asp321Asn

Select item 14787754607.

rs1478775460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:83678219 (GRCh38)
16:83711824 (GRCh37)
Canonical SPDI:: NC_000016.10:83678218:T:C
Gene:: CDH13 (Varview), LOC124900603 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83678219T>C, NC_000016.9:g.83711824T>C, NG_052819.1:g.1056426T>C, NM_001257.5:c.1296T>C, NM_001257.4:c.1296T>C, NM_001220488.2:c.1437T>C, NM_001220488.1:c.1437T>C, NM_001220489.2:c.1179T>C, NM_001220489.1:c.1179T>C, NM_001220490.2:c.534T>C, NM_001220490.1:c.534T>C, XM_011522804.4:c.993T>C, XM_011522804.3:c.993T>C, XM_011522804.2:c.993T>C, XM_011522804.1:c.993T>C

Select item 14783372228.

rs1478337222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:83780103 (GRCh38)
16:83813708 (GRCh37)
Canonical SPDI:: NC_000016.10:83780102:C:G
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83780103C>G, NC_000016.9:g.83813708C>G, NG_052819.1:g.1158310C>G, NM_001257.5:c.1817C>G, NM_001257.4:c.1817C>G, NM_001220488.2:c.1958C>G, NM_001220488.1:c.1958C>G, NM_001220489.2:c.1700C>G, NM_001220489.1:c.1700C>G, NM_001220490.2:c.1055C>G, NM_001220490.1:c.1055C>G, XM_011522804.4:c.1514C>G, XM_011522804.3:c.1514C>G, XM_011522804.2:c.1514C>G, XM_011522804.1:c.1514C>G, NP_001248.1:p.Ala606Gly, NP_001207417.1:p.Ala653Gly, NP_001207418.1:p.Ala567Gly, NP_001207419.1:p.Ala352Gly, XP_011521106.1:p.Ala505Gly

Select item 14781351529.

rs1478135152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:83344873 (GRCh38)
16:83378478 (GRCh37)
Canonical SPDI:: NC_000016.10:83344872:G:T
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.83344873G>T, NC_000016.9:g.83378478G>T, NG_052819.1:g.723080G>T, NM_001257.5:c.648G>T, NM_001257.4:c.648G>T, NM_001220488.2:c.789G>T, NM_001220488.1:c.789G>T, NM_001220489.2:c.531G>T, NM_001220489.1:c.531G>T, NM_001220490.2:c.-115G>T, NM_001220490.1:c.-115G>T, XM_011522804.4:c.345G>T, XM_011522804.3:c.345G>T, XM_011522804.2:c.345G>T, XM_011522804.1:c.345G>T, XM_017022848.3:c.789G>T, XM_017022848.2:c.789G>T, XM_017022848.1:c.789G>T, NP_001248.1:p.Glu216Asp, NP_001207417.1:p.Glu263Asp, NP_001207418.1:p.Glu177Asp, XP_011521106.1:p.Glu115Asp, XP_016878337.1:p.Glu263Asp

Select item 147762012610.

rs1477620126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:83125448 (GRCh38)
16:83159053 (GRCh37)
Canonical SPDI:: NC_000016.10:83125447:C:T
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.83125448C>T, NC_000016.9:g.83159053C>T, NG_052819.1:g.503655C>T, NM_001257.5:c.430C>T, NM_001257.4:c.430C>T, NM_001220488.2:c.571C>T, NM_001220488.1:c.571C>T, NM_001220490.2:c.-333C>T, NM_001220490.1:c.-333C>T, NM_001220491.2:c.430C>T, NM_001220491.1:c.430C>T, NM_001220492.2:c.430C>T, NM_001220492.1:c.430C>T, XM_011522804.4:c.127C>T, XM_011522804.3:c.127C>T, XM_011522804.2:c.127C>T, XM_011522804.1:c.127C>T, XM_017022848.3:c.571C>T, XM_017022848.2:c.571C>T, XM_017022848.1:c.571C>T, XM_017022849.3:c.571C>T, XM_017022849.2:c.571C>T, XM_017022849.1:c.571C>T, NP_001248.1:p.Pro144Ser, NP_001207417.1:p.Pro191Ser, NP_001207420.1:p.Pro144Ser, NP_001207421.1:p.Pro144Ser, XP_011521106.1:p.Pro43Ser, XP_016878337.1:p.Pro191Ser, XP_016878338.1:p.Pro191Ser

Select item 147700989211.

rs1477009892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:83783285 (GRCh38)
16:83816890 (GRCh37)
Canonical SPDI:: NC_000016.10:83783284:T:A,NC_000016.10:83783284:T:C
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.83783285T>A, NC_000016.10:g.83783285T>C, NC_000016.9:g.83816890T>A, NC_000016.9:g.83816890T>C, NG_052819.1:g.1161492T>A, NG_052819.1:g.1161492T>C, NM_001257.5:c.1947T>A, NM_001257.5:c.1947T>C, NM_001257.4:c.1947T>A, NM_001257.4:c.1947T>C, NM_001220488.2:c.2088T>A, NM_001220488.2:c.2088T>C, NM_001220488.1:c.2088T>A, NM_001220488.1:c.2088T>C, NM_001220489.2:c.1830T>A, NM_001220489.2:c.1830T>C, NM_001220489.1:c.1830T>A, NM_001220489.1:c.1830T>C, NM_001220490.2:c.1185T>A, NM_001220490.2:c.1185T>C, NM_001220490.1:c.1185T>A, NM_001220490.1:c.1185T>C, XM_011522804.4:c.1644T>A, XM_011522804.4:c.1644T>C, XM_011522804.3:c.1644T>A, XM_011522804.3:c.1644T>C, XM_011522804.2:c.1644T>A, XM_011522804.2:c.1644T>C, XM_011522804.1:c.1644T>A, XM_011522804.1:c.1644T>C, NP_001248.1:p.Asn649Lys, NP_001207417.1:p.Asn696Lys, NP_001207418.1:p.Asn610Lys, NP_001207419.1:p.Asn395Lys, XP_011521106.1:p.Asn548Lys

Select item 147599008512.

rs1475990085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:83032154 (GRCh38)
16:83065759 (GRCh37)
Canonical SPDI:: NC_000016.10:83032153:C:G,NC_000016.10:83032153:C:T
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83032154C>G, NC_000016.10:g.83032154C>T, NC_000016.9:g.83065759C>G, NC_000016.9:g.83065759C>T, NG_052819.1:g.410361C>G, NG_052819.1:g.410361C>T, NM_001257.5:c.302C>G, NM_001257.5:c.302C>T, NM_001257.4:c.302C>G, NM_001257.4:c.302C>T, NM_001220488.2:c.443C>G, NM_001220488.2:c.443C>T, NM_001220488.1:c.443C>G, NM_001220488.1:c.443C>T, NM_001220489.2:c.302C>G, NM_001220489.2:c.302C>T, NM_001220489.1:c.302C>G, NM_001220489.1:c.302C>T, NM_001220491.2:c.302C>G, NM_001220491.2:c.302C>T, NM_001220491.1:c.302C>G, NM_001220491.1:c.302C>T, NM_001220492.2:c.302C>G, NM_001220492.2:c.302C>T, NM_001220492.1:c.302C>G, NM_001220492.1:c.302C>T, XM_017022848.3:c.443C>G, XM_017022848.3:c.443C>T, XM_017022848.2:c.443C>G, XM_017022848.2:c.443C>T, XM_017022848.1:c.443C>G, XM_017022848.1:c.443C>T, XM_017022849.3:c.443C>G, XM_017022849.3:c.443C>T, XM_017022849.2:c.443C>G, XM_017022849.2:c.443C>T, XM_017022849.1:c.443C>G, XM_017022849.1:c.443C>T, NP_001248.1:p.Pro101Arg, NP_001248.1:p.Pro101Leu, NP_001207417.1:p.Pro148Arg, NP_001207417.1:p.Pro148Leu, NP_001207418.1:p.Pro101Arg, NP_001207418.1:p.Pro101Leu, NP_001207420.1:p.Pro101Arg, NP_001207420.1:p.Pro101Leu, NP_001207421.1:p.Pro101Arg, NP_001207421.1:p.Pro101Leu, XP_016878337.1:p.Pro148Arg, XP_016878337.1:p.Pro148Leu, XP_016878338.1:p.Pro148Arg, XP_016878338.1:p.Pro148Leu

Select item 147596109113.

rs1475961091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:82858395 (GRCh38)
16:82892000 (GRCh37)
Canonical SPDI:: NC_000016.10:82858394:T:A
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_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_000016.10:g.82858395T>A, NC_000016.9:g.82892000T>A, NG_052819.1:g.236602T>A, NM_001257.5:c.79T>A, NM_001257.4:c.79T>A, NM_001220488.2:c.220T>A, NM_001220488.1:c.220T>A, NM_001220489.2:c.79T>A, NM_001220489.1:c.79T>A, NM_001220490.2:c.-475T>A, NM_001220490.1:c.-475T>A, NM_001220491.2:c.79T>A, NM_001220491.1:c.79T>A, NM_001220492.2:c.79T>A, NM_001220492.1:c.79T>A, XM_017022848.3:c.220T>A, XM_017022848.2:c.220T>A, XM_017022848.1:c.220T>A, XM_017022849.3:c.220T>A, XM_017022849.2:c.220T>A, XM_017022849.1:c.220T>A, NP_001248.1:p.Cys27Ser, NP_001207417.1:p.Cys74Ser, NP_001207418.1:p.Cys27Ser, NP_001207420.1:p.Cys27Ser, NP_001207421.1:p.Cys27Ser, XP_016878337.1:p.Cys74Ser, XP_016878338.1:p.Cys74Ser

Select item 147439745014.

rs1474397450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83602510 (GRCh38)
16:83636115 (GRCh37)
Canonical SPDI:: NC_000016.10:83602509:G:A
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000016.10:g.83602510G>A, NC_000016.9:g.83636115G>A, NG_052819.1:g.980717G>A, NM_001257.5:c.1017G>A, NM_001257.4:c.1017G>A, NM_001220488.2:c.1158G>A, NM_001220488.1:c.1158G>A, NM_001220489.2:c.900G>A, NM_001220489.1:c.900G>A, NM_001220490.2:c.255G>A, NM_001220490.1:c.255G>A, XM_011522804.4:c.714G>A, XM_011522804.3:c.714G>A, XM_011522804.2:c.714G>A, XM_011522804.1:c.714G>A

Select item 147436617315.

rs1474366173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:83344957 (GRCh38)
16:83378562 (GRCh37)
Canonical SPDI:: NC_000016.10:83344956:C:T
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000342/1 (KOREAN)
T=0.001092/2 (Korea1K)
T=0.001345/23 (TOMMO)
HGVS:: NC_000016.10:g.83344957C>T, NC_000016.9:g.83378562C>T, NG_052819.1:g.723164C>T, NM_001257.5:c.732C>T, NM_001257.4:c.732C>T, NM_001220488.2:c.873C>T, NM_001220488.1:c.873C>T, NM_001220489.2:c.615C>T, NM_001220489.1:c.615C>T, NM_001220490.2:c.-31C>T, NM_001220490.1:c.-31C>T, XM_011522804.4:c.429C>T, XM_011522804.3:c.429C>T, XM_011522804.2:c.429C>T, XM_011522804.1:c.429C>T, XM_017022848.3:c.873C>T, XM_017022848.2:c.873C>T, XM_017022848.1:c.873C>T

Select item 147305284416.

rs1473052844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:82627097 (GRCh38)
16:82660702 (GRCh37)
Canonical SPDI:: NC_000016.10:82627096:A:C
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.82627097A>C, NC_000016.9:g.82660702A>C, NG_052819.1:g.5304A>C, NM_001257.5:c.5A>C, NM_001257.4:c.5A>C, NM_001220488.2:c.40A>C, NM_001220488.1:c.40A>C, NM_001220489.2:c.5A>C, NM_001220489.1:c.5A>C, NM_001220490.2:c.-549A>C, NM_001220490.1:c.-549A>C, NM_001220491.2:c.5A>C, NM_001220491.1:c.5A>C, NM_001220492.2:c.5A>C, NM_001220492.1:c.5A>C, XM_017022848.3:c.40A>C, XM_017022848.2:c.40A>C, XM_017022848.1:c.40A>C, XM_017022849.3:c.40A>C, XM_017022849.2:c.40A>C, XM_017022849.1:c.40A>C, NP_001248.1:p.Gln2Pro, NP_001207417.1:p.Ser14Arg, NP_001207418.1:p.Gln2Pro, NP_001207420.1:p.Gln2Pro, NP_001207421.1:p.Gln2Pro, XP_016878337.1:p.Ser14Arg, XP_016878338.1:p.Ser14Arg

Select item 147122096217.

rs1471220962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:83032018 (GRCh38)
16:83065623 (GRCh37)
Canonical SPDI:: NC_000016.10:83032017:A:C
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.83032018A>C, NC_000016.9:g.83065623A>C, NG_052819.1:g.410225A>C, NM_001257.5:c.166A>C, NM_001257.4:c.166A>C, NM_001220488.2:c.307A>C, NM_001220488.1:c.307A>C, NM_001220489.2:c.166A>C, NM_001220489.1:c.166A>C, NM_001220491.2:c.166A>C, NM_001220491.1:c.166A>C, NM_001220492.2:c.166A>C, NM_001220492.1:c.166A>C, XM_017022848.3:c.307A>C, XM_017022848.2:c.307A>C, XM_017022848.1:c.307A>C, XM_017022849.3:c.307A>C, XM_017022849.2:c.307A>C, XM_017022849.1:c.307A>C, NP_001248.1:p.Ser56Arg, NP_001207417.1:p.Ser103Arg, NP_001207418.1:p.Ser56Arg, NP_001207420.1:p.Ser56Arg, NP_001207421.1:p.Ser56Arg, XP_016878337.1:p.Ser103Arg, XP_016878338.1:p.Ser103Arg

Select item 147028664718.

rs1470286647 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:83678228 (GRCh38)
16:83711833 (GRCh37)
Canonical SPDI:: NC_000016.10:83678227:T:C
Gene:: CDH13 (Varview), LOC124900603 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.83678228T>C, NC_000016.9:g.83711833T>C, NG_052819.1:g.1056435T>C, NM_001257.5:c.1305T>C, NM_001257.4:c.1305T>C, NM_001220488.2:c.1446T>C, NM_001220488.1:c.1446T>C, NM_001220489.2:c.1188T>C, NM_001220489.1:c.1188T>C, NM_001220490.2:c.543T>C, NM_001220490.1:c.543T>C, XM_011522804.4:c.1002T>C, XM_011522804.3:c.1002T>C, XM_011522804.2:c.1002T>C, XM_011522804.1:c.1002T>C

Select item 146811064619.

rs1468110646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:82858386 (GRCh38)
16:82891991 (GRCh37)
Canonical SPDI:: NC_000016.10:82858385:G:C
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.82858386G>C, NC_000016.9:g.82891991G>C, NG_052819.1:g.236593G>C, NM_001257.5:c.70G>C, NM_001257.4:c.70G>C, NM_001220488.2:c.211G>C, NM_001220488.1:c.211G>C, NM_001220489.2:c.70G>C, NM_001220489.1:c.70G>C, NM_001220490.2:c.-484G>C, NM_001220490.1:c.-484G>C, NM_001220491.2:c.70G>C, NM_001220491.1:c.70G>C, NM_001220492.2:c.70G>C, NM_001220492.1:c.70G>C, XM_017022848.3:c.211G>C, XM_017022848.2:c.211G>C, XM_017022848.1:c.211G>C, XM_017022849.3:c.211G>C, XM_017022849.2:c.211G>C, XM_017022849.1:c.211G>C, NP_001248.1:p.Asp24His, NP_001207417.1:p.Asp71His, NP_001207418.1:p.Asp24His, NP_001207420.1:p.Asp24His, NP_001207421.1:p.Asp24His, XP_016878337.1:p.Asp71His, XP_016878338.1:p.Asp71His

Select item 146799672220.

rs1467996722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:83344868 (GRCh38)
16:83378473 (GRCh37)
Canonical SPDI:: NC_000016.10:83344867:G:C
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,5_prime_UTR_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_000016.10:g.83344868G>C, NC_000016.9:g.83378473G>C, NG_052819.1:g.723075G>C, NM_001257.5:c.643G>C, NM_001257.4:c.643G>C, NM_001220488.2:c.784G>C, NM_001220488.1:c.784G>C, NM_001220489.2:c.526G>C, NM_001220489.1:c.526G>C, NM_001220490.2:c.-120G>C, NM_001220490.1:c.-120G>C, XM_011522804.4:c.340G>C, XM_011522804.3:c.340G>C, XM_011522804.2:c.340G>C, XM_011522804.1:c.340G>C, XM_017022848.3:c.784G>C, XM_017022848.2:c.784G>C, XM_017022848.1:c.784G>C, NP_001248.1:p.Val215Leu, NP_001207417.1:p.Val262Leu, NP_001207418.1:p.Val176Leu, XP_011521106.1:p.Val114Leu, XP_016878337.1:p.Val262Leu

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