SNP Links for Protein (Select 1034593342) - SNP

Select item 14870835161.

rs1487083516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:83180898 (GRCh38)
16:83214503 (GRCh37)
Canonical SPDI:: NC_000016.10:83180897:T:C
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.83180898T>C, NC_000016.9:g.83214503T>C, NG_052819.1:g.559105T>C, NM_001220491.2:c.512T>C, NM_001220491.1:c.512T>C, NM_001220492.2:c.*32T>C, NM_001220492.1:c.*32T>C, XM_017022849.3:c.653T>C, XM_017022849.2:c.653T>C, XM_017022849.1:c.653T>C, NP_001207420.1:p.Leu171Pro, XP_016878338.1:p.Leu218Pro

Select item 14868851822.

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 14867940663.

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 14810465814.

rs1481046581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:82639397 (GRCh38)
16:82673002 (GRCh37)
Canonical SPDI:: NC_000016.10:82639396:C:G
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=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.82639397C>G, NC_000016.9:g.82673002C>G, NG_052819.1:g.17604C>G, NM_001220488.2:c.118C>G, NM_001220488.1:c.118C>G, XM_017022848.3:c.118C>G, XM_017022848.2:c.118C>G, XM_017022848.1:c.118C>G, XM_017022849.3:c.118C>G, XM_017022849.2:c.118C>G, XM_017022849.1:c.118C>G, NP_001207417.1:p.Gln40Glu, XP_016878337.1:p.Gln40Glu, XP_016878338.1:p.Gln40Glu

Select item 14776201265.

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 14759900856.

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 14759610917.

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 14730528448.

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 14712209629.

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 146811064610.

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 146806715811.

rs1468067158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:82639416 (GRCh38)
16:82673021 (GRCh37)
Canonical SPDI:: NC_000016.10:82639415:A:G
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=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.82639416A>G, NC_000016.9:g.82673021A>G, NG_052819.1:g.17623A>G, NM_001220488.2:c.137A>G, NM_001220488.1:c.137A>G, XM_017022848.3:c.137A>G, XM_017022848.2:c.137A>G, XM_017022848.1:c.137A>G, XM_017022849.3:c.137A>G, XM_017022849.2:c.137A>G, XM_017022849.1:c.137A>G, NP_001207417.1:p.Asn46Ser, XP_016878337.1:p.Asn46Ser, XP_016878338.1:p.Asn46Ser

Select item 146773415812.

rs1467734158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:83032203 (GRCh38)
16:83065808 (GRCh37)
Canonical SPDI:: NC_000016.10:83032202:C:T
Gene:: CDH13 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.83032203C>T, NC_000016.9:g.83065808C>T, NG_052819.1:g.410410C>T, NM_001257.5:c.351C>T, NM_001257.4:c.351C>T, NM_001220488.2:c.492C>T, NM_001220488.1:c.492C>T, NM_001220489.2:c.351C>T, NM_001220489.1:c.351C>T, NM_001220491.2:c.351C>T, NM_001220491.1:c.351C>T, NM_001220492.2:c.351C>T, NM_001220492.1:c.351C>T, XM_017022848.3:c.492C>T, XM_017022848.2:c.492C>T, XM_017022848.1:c.492C>T, XM_017022849.3:c.492C>T, XM_017022849.2:c.492C>T, XM_017022849.1:c.492C>T

Select item 146448031813.

rs1464480318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:82858472 (GRCh38)
16:82892077 (GRCh37)
Canonical SPDI:: NC_000016.10:82858471:C:T
Gene:: CDH13 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.82858472C>T, NC_000016.9:g.82892077C>T, NG_052819.1:g.236679C>T, NM_001257.5:c.156C>T, NM_001257.4:c.156C>T, NM_001220488.2:c.297C>T, NM_001220488.1:c.297C>T, NM_001220489.2:c.156C>T, NM_001220489.1:c.156C>T, NM_001220490.2:c.-398C>T, NM_001220490.1:c.-398C>T, NM_001220491.2:c.156C>T, NM_001220491.1:c.156C>T, NM_001220492.2:c.156C>T, NM_001220492.1:c.156C>T, XM_017022848.3:c.297C>T, XM_017022848.2:c.297C>T, XM_017022848.1:c.297C>T, XM_017022849.3:c.297C>T, XM_017022849.2:c.297C>T, XM_017022849.1:c.297C>T

Select item 146077349714.

rs1460773497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:82639363 (GRCh38)
16:82672968 (GRCh37)
Canonical SPDI:: NC_000016.10:82639362:C:G
Gene:: CDH13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.82639363C>G, NC_000016.9:g.82672968C>G, NG_052819.1:g.17570C>G, NM_001220488.2:c.84C>G, NM_001220488.1:c.84C>G, XM_017022848.3:c.84C>G, XM_017022848.2:c.84C>G, XM_017022848.1:c.84C>G, XM_017022849.3:c.84C>G, XM_017022849.2:c.84C>G, XM_017022849.1:c.84C>G

Select item 145981085315.

rs1459810853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:82639432 (GRCh38)
16:82673037 (GRCh37)
Canonical SPDI:: NC_000016.10:82639431:T:C
Gene:: CDH13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000039/5 (GnomAD_exomes)
C=0.000094/25 (TOPMED)
C=0.000121/17 (GnomAD)
HGVS:: NC_000016.10:g.82639432T>C, NC_000016.9:g.82673037T>C, NG_052819.1:g.17639T>C, NM_001220488.2:c.153T>C, NM_001220488.1:c.153T>C, XM_017022848.3:c.153T>C, XM_017022848.2:c.153T>C, XM_017022848.1:c.153T>C, XM_017022849.3:c.153T>C, XM_017022849.2:c.153T>C, XM_017022849.1:c.153T>C

Select item 145390541316.

rs1453905413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:82858403 (GRCh38)
16:82892008 (GRCh37)
Canonical SPDI:: NC_000016.10:82858402:T:C
Gene:: CDH13 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.82858403T>C, NC_000016.9:g.82892008T>C, NG_052819.1:g.236610T>C, NM_001257.5:c.87T>C, NM_001257.4:c.87T>C, NM_001220488.2:c.228T>C, NM_001220488.1:c.228T>C, NM_001220489.2:c.87T>C, NM_001220489.1:c.87T>C, NM_001220490.2:c.-467T>C, NM_001220490.1:c.-467T>C, NM_001220491.2:c.87T>C, NM_001220491.1:c.87T>C, NM_001220492.2:c.87T>C, NM_001220492.1:c.87T>C, XM_017022848.3:c.228T>C, XM_017022848.2:c.228T>C, XM_017022848.1:c.228T>C, XM_017022849.3:c.228T>C, XM_017022849.2:c.228T>C, XM_017022849.1:c.228T>C

Select item 144934042217.

rs1449340422 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:82627112 (GRCh38)
16:82660717 (GRCh37)
Canonical SPDI:: NC_000016.10:82627111:T:C
Gene:: CDH13 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.82627112T>C, NC_000016.9:g.82660717T>C, NG_052819.1:g.5319T>C, NM_001257.5:c.20T>C, NM_001257.4:c.20T>C, NM_001220488.2:c.55T>C, NM_001220488.1:c.55T>C, NM_001220489.2:c.20T>C, NM_001220489.1:c.20T>C, NM_001220490.2:c.-534T>C, NM_001220490.1:c.-534T>C, NM_001220491.2:c.20T>C, NM_001220491.1:c.20T>C, NM_001220492.2:c.20T>C, NM_001220492.1:c.20T>C, XM_017022848.3:c.55T>C, XM_017022848.2:c.55T>C, XM_017022848.1:c.55T>C, XM_017022849.3:c.55T>C, XM_017022849.2:c.55T>C, XM_017022849.1:c.55T>C, NP_001248.1:p.Leu7Pro, NP_001207417.1:p.Ser19Pro, NP_001207418.1:p.Leu7Pro, NP_001207420.1:p.Leu7Pro, NP_001207421.1:p.Leu7Pro, XP_016878337.1:p.Ser19Pro, XP_016878338.1:p.Ser19Pro

Select item 144562048618.

rs1445620486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:82858392 (GRCh38)
16:82891997 (GRCh37)
Canonical SPDI:: NC_000016.10:82858391:G:A
Gene:: CDH13 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.82858392G>A, NC_000016.9:g.82891997G>A, NG_052819.1:g.236599G>A, NM_001257.5:c.76G>A, NM_001257.4:c.76G>A, NM_001220488.2:c.217G>A, NM_001220488.1:c.217G>A, NM_001220489.2:c.76G>A, NM_001220489.1:c.76G>A, NM_001220490.2:c.-478G>A, NM_001220490.1:c.-478G>A, NM_001220491.2:c.76G>A, NM_001220491.1:c.76G>A, NM_001220492.2:c.76G>A, NM_001220492.1:c.76G>A, XM_017022848.3:c.217G>A, XM_017022848.2:c.217G>A, XM_017022848.1:c.217G>A, XM_017022849.3:c.217G>A, XM_017022849.2:c.217G>A, XM_017022849.1:c.217G>A, NP_001248.1:p.Asp26Asn, NP_001207417.1:p.Asp73Asn, NP_001207418.1:p.Asp26Asn, NP_001207420.1:p.Asp26Asn, NP_001207421.1:p.Asp26Asn, XP_016878337.1:p.Asp73Asn, XP_016878338.1:p.Asp73Asn

Select item 143961737919.

rs1439617379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83032051 (GRCh38)
16:83065656 (GRCh37)
Canonical SPDI:: NC_000016.10:83032050:G:A
Gene:: CDH13 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000016.10:g.83032051G>A, NC_000016.9:g.83065656G>A, NG_052819.1:g.410258G>A, NM_001257.5:c.199G>A, NM_001257.4:c.199G>A, NM_001220488.2:c.340G>A, NM_001220488.1:c.340G>A, NM_001220489.2:c.199G>A, NM_001220489.1:c.199G>A, NM_001220491.2:c.199G>A, NM_001220491.1:c.199G>A, NM_001220492.2:c.199G>A, NM_001220492.1:c.199G>A, XM_017022848.3:c.340G>A, XM_017022848.2:c.340G>A, XM_017022848.1:c.340G>A, XM_017022849.3:c.340G>A, XM_017022849.2:c.340G>A, XM_017022849.1:c.340G>A, NP_001248.1:p.Glu67Lys, NP_001207417.1:p.Glu114Lys, NP_001207418.1:p.Glu67Lys, NP_001207420.1:p.Glu67Lys, NP_001207421.1:p.Glu67Lys, XP_016878337.1:p.Glu114Lys, XP_016878338.1:p.Glu114Lys

Select item 143589715720.

rs1435897157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:83032026 (GRCh38)
16:83065631 (GRCh37)
Canonical SPDI:: NC_000016.10:83032025:T:C
Gene:: CDH13 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000016.10:g.83032026T>C, NC_000016.9:g.83065631T>C, NG_052819.1:g.410233T>C, NM_001257.5:c.174T>C, NM_001257.4:c.174T>C, NM_001220488.2:c.315T>C, NM_001220488.1:c.315T>C, NM_001220489.2:c.174T>C, NM_001220489.1:c.174T>C, NM_001220491.2:c.174T>C, NM_001220491.1:c.174T>C, NM_001220492.2:c.174T>C, NM_001220492.1:c.174T>C, XM_017022848.3:c.315T>C, XM_017022848.2:c.315T>C, XM_017022848.1:c.315T>C, XM_017022849.3:c.315T>C, XM_017022849.2:c.315T>C, XM_017022849.1:c.315T>C

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Result Filters

Clinical Significance

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Items: 1 to 20 of 331

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