SNP Links for Protein (Select 14589891) - SNP

Links from Protein

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Select item 14877759541.

rs1487775954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:68645737 (GRCh38)
16:68679640 (GRCh37)
Canonical SPDI:: NC_000016.10:68645736:G:A
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000016.10:g.68645737G>A, NC_000016.9:g.68679640G>A, NG_009096.1:g.6490G>A, NM_001793.6:c.147G>A, NM_001793.5:c.147G>A, NM_001793.4:c.147G>A, NM_001317195.3:c.147G>A, NM_001317195.2:c.147G>A, NM_001317195.1:c.147G>A, XM_011522800.4:c.147G>A, XM_011522800.3:c.147G>A, XM_011522800.2:c.147G>A, XM_011522800.1:c.147G>A, XM_047433450.1:c.147G>A

Select item 14876045392.

rs1487604539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:68682403 (GRCh38)
16:68716306 (GRCh37)
Canonical SPDI:: NC_000016.10:68682402:C:A
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68682403C>A, NC_000016.9:g.68716306C>A, NG_009096.1:g.43156C>A, NM_001793.6:c.1098C>A, NM_001793.5:c.1098C>A, NM_001793.4:c.1098C>A, NM_001317195.3:c.1098C>A, NM_001317195.2:c.1098C>A, NM_001317195.1:c.1098C>A, NM_001317196.2:c.933C>A, NM_001317196.1:c.933C>A, XM_011522800.4:c.1098C>A, XM_011522800.3:c.1098C>A, XM_011522800.2:c.1098C>A, XM_011522800.1:c.1098C>A, XM_047433450.1:c.1098C>A, NP_001784.2:p.Tyr366Ter, NP_001304124.1:p.Tyr366Ter, NP_001304125.1:p.Tyr311Ter, XP_011521102.1:p.Tyr366Ter, XP_047289406.1:p.Tyr366Ter

Select item 14874417063.

rs1487441706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:68678142 (GRCh38)
16:68712045 (GRCh37)
Canonical SPDI:: NC_000016.10:68678141:G:A,NC_000016.10:68678141:G:T
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
A=0./0 (Korea1K)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68678142G>A, NC_000016.10:g.68678142G>T, NC_000016.9:g.68712045G>A, NC_000016.9:g.68712045G>T, NG_009096.1:g.38895G>A, NG_009096.1:g.38895G>T, NM_001793.6:c.255G>A, NM_001793.6:c.255G>T, NM_001793.5:c.255G>A, NM_001793.5:c.255G>T, NM_001793.4:c.255G>A, NM_001793.4:c.255G>T, NM_001317195.3:c.255G>A, NM_001317195.3:c.255G>T, NM_001317195.2:c.255G>A, NM_001317195.2:c.255G>T, NM_001317195.1:c.255G>A, NM_001317195.1:c.255G>T, NM_001317196.2:c.90G>A, NM_001317196.2:c.90G>T, NM_001317196.1:c.90G>A, NM_001317196.1:c.90G>T, XM_011522800.4:c.255G>A, XM_011522800.4:c.255G>T, XM_011522800.3:c.255G>A, XM_011522800.3:c.255G>T, XM_011522800.2:c.255G>A, XM_011522800.2:c.255G>T, XM_011522800.1:c.255G>A, XM_011522800.1:c.255G>T, XM_047433450.1:c.255G>A, XM_047433450.1:c.255G>T, NP_001784.2:p.Arg85Ser, NP_001304124.1:p.Arg85Ser, NP_001304125.1:p.Arg30Ser, XP_011521102.1:p.Arg85Ser, XP_047289406.1:p.Arg85Ser

Select item 14859813604.

rs1485981360 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:68691846 (GRCh38)
16:68725750 (GRCh37)
Canonical SPDI:: NC_000016.10:68691846:T:TT
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TT=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.68691847dup, NC_000016.9:g.68725750dup, NG_009096.1:g.52600dup, NM_001793.6:c.1923dup, NM_001793.5:c.1923dup, NM_001793.4:c.1923dup, NM_001317195.3:c.1923dup, NM_001317195.2:c.1923dup, NM_001317195.1:c.1923dup, NM_001317196.2:c.1758dup, NM_001317196.1:c.1758dup, XM_011522800.4:c.1923dup, XM_011522800.3:c.1923dup, XM_011522800.2:c.1923dup, XM_011522800.1:c.1923dup, XM_047433450.1:c.1923dup, NP_001784.2:p.Gly642fs, NP_001304124.1:p.Gly642fs, NP_001304125.1:p.Gly587fs, XP_011521102.1:p.Gly642fs, XP_047289406.1:p.Gly642fs

Select item 14859541875.

rs1485954187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:68645674 (GRCh38)
16:68679577 (GRCh37)
Canonical SPDI:: NC_000016.10:68645673:G:A,NC_000016.10:68645673:G:T
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68645674G>A, NC_000016.10:g.68645674G>T, NC_000016.9:g.68679577G>A, NC_000016.9:g.68679577G>T, NG_009096.1:g.6427G>A, NG_009096.1:g.6427G>T, NM_001793.6:c.84G>A, NM_001793.6:c.84G>T, NM_001793.5:c.84G>A, NM_001793.5:c.84G>T, NM_001793.4:c.84G>A, NM_001793.4:c.84G>T, NM_001317195.3:c.84G>A, NM_001317195.3:c.84G>T, NM_001317195.2:c.84G>A, NM_001317195.2:c.84G>T, NM_001317195.1:c.84G>A, NM_001317195.1:c.84G>T, XM_011522800.4:c.84G>A, XM_011522800.4:c.84G>T, XM_011522800.3:c.84G>A, XM_011522800.3:c.84G>T, XM_011522800.2:c.84G>A, XM_011522800.2:c.84G>T, XM_011522800.1:c.84G>A, XM_011522800.1:c.84G>T, XM_047433450.1:c.84G>A, XM_047433450.1:c.84G>T

Select item 14853445356.

rs1485344535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:68698256 (GRCh38)
16:68732159 (GRCh37)
Canonical SPDI:: NC_000016.10:68698255:T:A,NC_000016.10:68698255:T:C
Gene:: CDH3 (Varview)
Functional Consequence:: stop_gained,intron_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68698256T>A, NC_000016.10:g.68698256T>C, NC_000016.9:g.68732159T>A, NC_000016.9:g.68732159T>C, NG_009096.1:g.59009T>A, NG_009096.1:g.59009T>C, NM_001793.6:c.2346T>A, NM_001793.6:c.2346T>C, NM_001793.5:c.2346T>A, NM_001793.5:c.2346T>C, NM_001793.4:c.2346T>A, NM_001793.4:c.2346T>C, NM_001317195.3:c.*89T>A, NM_001317195.3:c.*89T>C, NM_001317195.2:c.*89T>A, NM_001317195.2:c.*89T>C, NM_001317195.1:c.*89T>A, NM_001317195.1:c.*89T>C, NM_001317196.2:c.2181T>A, NM_001317196.2:c.2181T>C, NM_001317196.1:c.2181T>A, NM_001317196.1:c.2181T>C, NP_001784.2:p.Tyr782Ter, NP_001304125.1:p.Tyr727Ter

Select item 14852630737.

rs1485263073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:68681078 (GRCh38)
16:68714981 (GRCh37)
Canonical SPDI:: NC_000016.10:68681077:C:T
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.68681078C>T, NC_000016.9:g.68714981C>T, NG_009096.1:g.41831C>T, NM_001793.6:c.978C>T, NM_001793.5:c.978C>T, NM_001793.4:c.978C>T, NM_001317195.3:c.978C>T, NM_001317195.2:c.978C>T, NM_001317195.1:c.978C>T, NM_001317196.2:c.813C>T, NM_001317196.1:c.813C>T, XM_011522800.4:c.978C>T, XM_011522800.3:c.978C>T, XM_011522800.2:c.978C>T, XM_011522800.1:c.978C>T, XM_047433450.1:c.978C>T

Select item 14825496278.

rs1482549627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:68695877 (GRCh38)
16:68729780 (GRCh37)
Canonical SPDI:: NC_000016.10:68695876:G:A
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.68695877G>A, NC_000016.9:g.68729780G>A, NG_009096.1:g.56630G>A, NM_001793.6:c.2234G>A, NM_001793.5:c.2234G>A, NM_001793.4:c.2234G>A, NM_001317195.3:c.2234G>A, NM_001317195.2:c.2234G>A, NM_001317195.1:c.2234G>A, NM_001317196.2:c.2069G>A, NM_001317196.1:c.2069G>A, XM_011522800.4:c.2234G>A, XM_011522800.3:c.2234G>A, XM_011522800.2:c.2234G>A, XM_011522800.1:c.2234G>A, XM_047433450.1:c.2234G>A, NP_001784.2:p.Arg745His, NP_001304124.1:p.Arg745His, NP_001304125.1:p.Arg690His, XP_011521102.1:p.Arg745His, XP_047289406.1:p.Arg745His

Select item 14781091789.

rs1478109178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:68679951 (GRCh38)
16:68713854 (GRCh37)
Canonical SPDI:: NC_000016.10:68679950:A:G
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68679951A>G, NC_000016.9:g.68713854A>G, NG_009096.1:g.40704A>G, NM_001793.6:c.844A>G, NM_001793.5:c.844A>G, NM_001793.4:c.844A>G, NM_001317195.3:c.844A>G, NM_001317195.2:c.844A>G, NM_001317195.1:c.844A>G, NM_001317196.2:c.679A>G, NM_001317196.1:c.679A>G, XM_011522800.4:c.844A>G, XM_011522800.3:c.844A>G, XM_011522800.2:c.844A>G, XM_011522800.1:c.844A>G, XM_047433450.1:c.844A>G, NP_001784.2:p.Ile282Val, NP_001304124.1:p.Ile282Val, NP_001304125.1:p.Ile227Val, XP_011521102.1:p.Ile282Val, XP_047289406.1:p.Ile282Val

Select item 147718827110.

rs1477188271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:68691835 (GRCh38)
16:68725738 (GRCh37)
Canonical SPDI:: NC_000016.10:68691834:G:A
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000016.10:g.68691835G>A, NC_000016.9:g.68725738G>A, NG_009096.1:g.52588G>A, NM_001793.6:c.1911G>A, NM_001793.5:c.1911G>A, NM_001793.4:c.1911G>A, NM_001317195.3:c.1911G>A, NM_001317195.2:c.1911G>A, NM_001317195.1:c.1911G>A, NM_001317196.2:c.1746G>A, NM_001317196.1:c.1746G>A, XM_011522800.4:c.1911G>A, XM_011522800.3:c.1911G>A, XM_011522800.2:c.1911G>A, XM_011522800.1:c.1911G>A, XM_047433450.1:c.1911G>A

Select item 147682392311.

rs1476823923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:68691899 (GRCh38)
16:68725802 (GRCh37)
Canonical SPDI:: NC_000016.10:68691898:G:T
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.68691899G>T, NC_000016.9:g.68725802G>T, NG_009096.1:g.52652G>T, NM_001793.6:c.1975G>T, NM_001793.5:c.1975G>T, NM_001793.4:c.1975G>T, NM_001317195.3:c.1975G>T, NM_001317195.2:c.1975G>T, NM_001317195.1:c.1975G>T, NM_001317196.2:c.1810G>T, NM_001317196.1:c.1810G>T, XM_011522800.4:c.1975G>T, XM_011522800.3:c.1975G>T, XM_011522800.2:c.1975G>T, XM_011522800.1:c.1975G>T, XM_047433450.1:c.1975G>T, NP_001784.2:p.Val659Leu, NP_001304124.1:p.Val659Leu, NP_001304125.1:p.Val604Leu, XP_011521102.1:p.Val659Leu, XP_047289406.1:p.Val659Leu

Select item 147667411712.

rs1476674117 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:68698296 (GRCh38)
16:68732199 (GRCh37)
Canonical SPDI:: NC_000016.10:68698295:A:C,NC_000016.10:68698295:A:G
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.001638/3 (Korea1K)
HGVS:: NC_000016.10:g.68698296A>C, NC_000016.10:g.68698296A>G, NC_000016.9:g.68732199A>C, NC_000016.9:g.68732199A>G, NG_009096.1:g.59049A>C, NG_009096.1:g.59049A>G, NM_001793.6:c.2386A>C, NM_001793.6:c.2386A>G, NM_001793.5:c.2386A>C, NM_001793.5:c.2386A>G, NM_001793.4:c.2386A>C, NM_001793.4:c.2386A>G, NM_001317195.3:c.*129A>C, NM_001317195.3:c.*129A>G, NM_001317195.2:c.*129A>C, NM_001317195.2:c.*129A>G, NM_001317195.1:c.*129A>C, NM_001317195.1:c.*129A>G, NM_001317196.2:c.2221A>C, NM_001317196.2:c.2221A>G, NM_001317196.1:c.2221A>C, NM_001317196.1:c.2221A>G, NP_001784.2:p.Thr796Pro, NP_001784.2:p.Thr796Ala, NP_001304125.1:p.Thr741Pro, NP_001304125.1:p.Thr741Ala

Select item 147641484613.

rs1476414846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:68695873 (GRCh38)
16:68729776 (GRCh37)
Canonical SPDI:: NC_000016.10:68695872:T:C
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.68695873T>C, NC_000016.9:g.68729776T>C, NG_009096.1:g.56626T>C, NM_001793.6:c.2230T>C, NM_001793.5:c.2230T>C, NM_001793.4:c.2230T>C, NM_001317195.3:c.2230T>C, NM_001317195.2:c.2230T>C, NM_001317195.1:c.2230T>C, NM_001317196.2:c.2065T>C, NM_001317196.1:c.2065T>C, XM_011522800.4:c.2230T>C, XM_011522800.3:c.2230T>C, XM_011522800.2:c.2230T>C, XM_011522800.1:c.2230T>C, XM_047433450.1:c.2230T>C, NP_001784.2:p.Tyr744His, NP_001304124.1:p.Tyr744His, NP_001304125.1:p.Tyr689His, XP_011521102.1:p.Tyr744His, XP_047289406.1:p.Tyr744His

Select item 147419878114.

rs1474198781 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:68645692 (GRCh38)
16:68679595 (GRCh37)
Canonical SPDI:: NC_000016.10:68645691:T:C
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD_exomes)
C=0.00006/1 (TOMMO)
C=0.000552/1 (Korea1K)
HGVS:: NC_000016.10:g.68645692T>C, NC_000016.9:g.68679595T>C, NG_009096.1:g.6445T>C, NM_001793.6:c.102T>C, NM_001793.5:c.102T>C, NM_001793.4:c.102T>C, NM_001317195.3:c.102T>C, NM_001317195.2:c.102T>C, NM_001317195.1:c.102T>C, XM_011522800.4:c.102T>C, XM_011522800.3:c.102T>C, XM_011522800.2:c.102T>C, XM_011522800.1:c.102T>C, XM_047433450.1:c.102T>C

Select item 147208391515.

rs1472083915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:68695898 (GRCh38)
16:68729801 (GRCh37)
Canonical SPDI:: NC_000016.10:68695897:A:G
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68695898A>G, NC_000016.9:g.68729801A>G, NG_009096.1:g.56651A>G, NM_001793.6:c.2255A>G, NM_001793.5:c.2255A>G, NM_001793.4:c.2255A>G, NM_001317195.3:c.2255A>G, NM_001317195.2:c.2255A>G, NM_001317195.1:c.2255A>G, NM_001317196.2:c.2090A>G, NM_001317196.1:c.2090A>G, XM_011522800.4:c.2255A>G, XM_011522800.3:c.2255A>G, XM_011522800.2:c.2255A>G, XM_011522800.1:c.2255A>G, XM_047433450.1:c.2255A>G, NP_001784.2:p.Asp752Gly, NP_001304124.1:p.Asp752Gly, NP_001304125.1:p.Asp697Gly, XP_011521102.1:p.Asp752Gly, XP_047289406.1:p.Asp752Gly

Select item 147208166816.

rs1472081668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:68645672 (GRCh38)
16:68679575 (GRCh37)
Canonical SPDI:: NC_000016.10:68645671:C:G,NC_000016.10:68645671:C:T
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.68645672C>G, NC_000016.10:g.68645672C>T, NC_000016.9:g.68679575C>G, NC_000016.9:g.68679575C>T, NG_009096.1:g.6425C>G, NG_009096.1:g.6425C>T, NM_001793.6:c.82C>G, NM_001793.6:c.82C>T, NM_001793.5:c.82C>G, NM_001793.5:c.82C>T, NM_001793.4:c.82C>G, NM_001793.4:c.82C>T, NM_001317195.3:c.82C>G, NM_001317195.3:c.82C>T, NM_001317195.2:c.82C>G, NM_001317195.2:c.82C>T, NM_001317195.1:c.82C>G, NM_001317195.1:c.82C>T, XM_011522800.4:c.82C>G, XM_011522800.4:c.82C>T, XM_011522800.3:c.82C>G, XM_011522800.3:c.82C>T, XM_011522800.2:c.82C>G, XM_011522800.2:c.82C>T, XM_011522800.1:c.82C>G, XM_011522800.1:c.82C>T, XM_047433450.1:c.82C>G, XM_047433450.1:c.82C>T, NP_001784.2:p.Arg28Gly, NP_001784.2:p.Arg28Trp, NP_001304124.1:p.Arg28Gly, NP_001304124.1:p.Arg28Trp, XP_011521102.1:p.Arg28Gly, XP_011521102.1:p.Arg28Trp, XP_047289406.1:p.Arg28Gly, XP_047289406.1:p.Arg28Trp

Select item 147144735717.

rs1471447357 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGTGGCGAAGAGG>- [Show Flanks]
Chromosome:: 16:68695366 (GRCh38)
16:68729269 (GRCh37)
Canonical SPDI:: NC_000016.10:68695354:TGGCGAAGAGGGGGGTGGCGAAGAGG:TGGCGAAGAGG
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68695366_68695380del, NC_000016.9:g.68729269_68729283del, NG_009096.1:g.56119_56133del, NM_001793.6:c.2114_2128del, NM_001793.5:c.2114_2128del, NM_001793.4:c.2114_2128del, NM_001317195.3:c.2114_2128del, NM_001317195.2:c.2114_2128del, NM_001317195.1:c.2114_2128del, NM_001317196.2:c.1949_1963del, NM_001317196.1:c.1949_1963del, XM_011522800.4:c.2114_2128del, XM_011522800.3:c.2114_2128del, XM_011522800.2:c.2114_2128del, XM_011522800.1:c.2114_2128del, XM_047433450.1:c.2114_2128del, NP_001784.2:p.Gly705_Glu709del, NP_001304124.1:p.Gly705_Glu709del, NP_001304125.1:p.Gly650_Glu654del, XP_011521102.1:p.Gly705_Glu709del, XP_047289406.1:p.Gly705_Glu709del

Select item 147096391618.

rs1470963916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:68695302 (GRCh38)
16:68729205 (GRCh37)
Canonical SPDI:: NC_000016.10:68695301:A:G
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.68695302A>G, NC_000016.9:g.68729205A>G, NG_009096.1:g.56055A>G, NM_001793.6:c.2050A>G, NM_001793.5:c.2050A>G, NM_001793.4:c.2050A>G, NM_001317195.3:c.2050A>G, NM_001317195.2:c.2050A>G, NM_001317195.1:c.2050A>G, NM_001317196.2:c.1885A>G, NM_001317196.1:c.1885A>G, XM_011522800.4:c.2050A>G, XM_011522800.3:c.2050A>G, XM_011522800.2:c.2050A>G, XM_011522800.1:c.2050A>G, XM_047433450.1:c.2050A>G, NP_001784.2:p.Lys684Glu, NP_001304124.1:p.Lys684Glu, NP_001304125.1:p.Lys629Glu, XP_011521102.1:p.Lys684Glu, XP_047289406.1:p.Lys684Glu

Select item 146990509619.

rs1469905096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:68678235 (GRCh38)
16:68712138 (GRCh37)
Canonical SPDI:: NC_000016.10:68678234:C:T
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.68678235C>T, NC_000016.9:g.68712138C>T, NG_009096.1:g.38988C>T, NM_001793.6:c.348C>T, NM_001793.5:c.348C>T, NM_001793.4:c.348C>T, NM_001317195.3:c.348C>T, NM_001317195.2:c.348C>T, NM_001317195.1:c.348C>T, NM_001317196.2:c.183C>T, NM_001317196.1:c.183C>T, XM_011522800.4:c.348C>T, XM_011522800.3:c.348C>T, XM_011522800.2:c.348C>T, XM_011522800.1:c.348C>T, XM_047433450.1:c.348C>T

Select item 146762952520.

rs1467629525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:68682381 (GRCh38)
16:68716284 (GRCh37)
Canonical SPDI:: NC_000016.10:68682380:C:G
Gene:: CDH3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.68682381C>G, NC_000016.9:g.68716284C>G, NG_009096.1:g.43134C>G, NM_001793.6:c.1076C>G, NM_001793.5:c.1076C>G, NM_001793.4:c.1076C>G, NM_001317195.3:c.1076C>G, NM_001317195.2:c.1076C>G, NM_001317195.1:c.1076C>G, NM_001317196.2:c.911C>G, NM_001317196.1:c.911C>G, XM_011522800.4:c.1076C>G, XM_011522800.3:c.1076C>G, XM_011522800.2:c.1076C>G, XM_011522800.1:c.1076C>G, XM_047433450.1:c.1076C>G, NP_001784.2:p.Ser359Ter, NP_001304124.1:p.Ser359Ter, NP_001304125.1:p.Ser304Ter, XP_011521102.1:p.Ser359Ter, XP_047289406.1:p.Ser359Ter

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