SNP Links for Gene (Select 1014) - SNP

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Select item 14914858661.

rs1491485866 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 16:66912992 (GRCh38)
16:66946896 (GRCh37)
Canonical SPDI:: NC_000016.10:66912992:T:TAT
Gene:: CDH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.000018/2 (GnomAD)
HGVS:: NC_000016.10:g.66912993_66912994insAT, NC_000016.9:g.66946896_66946897insAT

Select item 14907652952.

rs1490765295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66920923 (GRCh38)
16:66954826 (GRCh37)
Canonical SPDI:: NC_000016.10:66920922:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.66920923C>T, NC_000016.9:g.66954826C>T

Select item 14906049983.

rs1490604998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:66919908 (GRCh38)
16:66953811 (GRCh37)
Canonical SPDI:: NC_000016.10:66919907:T:C
Gene:: CDH16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.66919908T>C, NC_000016.9:g.66953811T>C

Select item 14905180074.

rs1490518007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:66911218 (GRCh38)
16:66945121 (GRCh37)
Canonical SPDI:: NC_000016.10:66911217:C:A,NC_000016.10:66911217:C:T
Gene:: CDH16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66911218C>A, NC_000016.10:g.66911218C>T, NC_000016.9:g.66945121C>A, NC_000016.9:g.66945121C>T, NM_004062.4:c.1888G>T, NM_004062.4:c.1888G>A, NM_004062.3:c.1888G>T, NM_004062.3:c.1888G>A, XM_005255770.3:c.1354G>T, XM_005255770.3:c.1354G>A, XM_005255770.2:c.1354G>T, XM_005255770.2:c.1354G>A, XM_005255770.1:c.1354G>T, XM_005255770.1:c.1354G>A, NM_001204744.2:c.1888G>T, NM_001204744.2:c.1888G>A, NM_001204744.1:c.1888G>T, NM_001204744.1:c.1888G>A, NM_001204745.2:c.1888G>T, NM_001204745.2:c.1888G>A, NM_001204745.1:c.1888G>T, NM_001204745.1:c.1888G>A, XM_011522807.2:c.1699G>T, XM_011522807.2:c.1699G>A, XM_011522807.1:c.1699G>T, XM_011522807.1:c.1699G>A, NM_001204746.2:c.1597G>T, NM_001204746.2:c.1597G>A, NM_001204746.1:c.1597G>T, NM_001204746.1:c.1597G>A, XM_047433490.1:c.1678G>T, XM_047433490.1:c.1678G>A, NP_004053.1:p.Asp630Tyr, NP_004053.1:p.Asp630Asn, XP_005255827.1:p.Asp452Tyr, XP_005255827.1:p.Asp452Asn, NP_001191673.1:p.Asp630Tyr, NP_001191673.1:p.Asp630Asn, NP_001191674.1:p.Asp630Tyr, NP_001191674.1:p.Asp630Asn, XP_011521109.1:p.Asp567Tyr, XP_011521109.1:p.Asp567Asn, NP_001191675.1:p.Asp533Tyr, NP_001191675.1:p.Asp533Asn, XP_047289446.1:p.Asp560Tyr, XP_047289446.1:p.Asp560Asn

Select item 14904929235.

rs1490492923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66910184 (GRCh38)
16:66944087 (GRCh37)
Canonical SPDI:: NC_000016.10:66910183:A:G
Gene:: CDH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.66910184A>G, NC_000016.9:g.66944087A>G

Select item 14901628666.

rs1490162866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:66909333 (GRCh38)
16:66943236 (GRCh37)
Canonical SPDI:: NC_000016.10:66909332:G:A
Gene:: CDH16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.66909333G>A, NC_000016.9:g.66943236G>A, NM_004062.4:c.2326C>T, NM_004062.3:c.2326C>T, XM_005255770.3:c.1792C>T, XM_005255770.2:c.1792C>T, XM_005255770.1:c.1792C>T, NM_001204744.2:c.2260C>T, NM_001204744.1:c.2260C>T, NM_001204745.2:c.2209C>T, NM_001204745.1:c.2209C>T, XM_011522807.2:c.2137C>T, XM_011522807.1:c.2137C>T, NM_001204746.2:c.2035C>T, NM_001204746.1:c.2035C>T, XM_047433490.1:c.2116C>T, NP_004053.1:p.Arg776Cys, XP_005255827.1:p.Arg598Cys, NP_001191673.1:p.Arg754Cys, NP_001191674.1:p.Arg737Cys, XP_011521109.1:p.Arg713Cys, NP_001191675.1:p.Arg679Cys, XP_047289446.1:p.Arg706Cys

Select item 14900014927.

rs1490001492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:66909743 (GRCh38)
16:66943646 (GRCh37)
Canonical SPDI:: NC_000016.10:66909742:C:G
Gene:: CDH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.66909743C>G, NC_000016.9:g.66943646C>G

Select item 14896948448.

rs1489694844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:66915909 (GRCh38)
16:66949812 (GRCh37)
Canonical SPDI:: NC_000016.10:66915908:A:T
Gene:: CDH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66915909A>T, NC_000016.9:g.66949812A>T

Select item 14896925499.

rs1489692549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66917982 (GRCh38)
16:66951885 (GRCh37)
Canonical SPDI:: NC_000016.10:66917981:A:G
Gene:: CDH16 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.66917982A>G, NC_000016.9:g.66951885A>G

Select item 148955215410.

rs1489552154 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:66908866 (GRCh38)
16:66942770 (GRCh37)
Canonical SPDI:: NC_000016.10:66908866:T:TT
Gene:: CDH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.66908867dup, NC_000016.9:g.66942770dup

Select item 148938524811.

rs1489385248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66914493 (GRCh38)
16:66948396 (GRCh37)
Canonical SPDI:: NC_000016.10:66914492:C:T
Gene:: CDH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.66914493C>T, NC_000016.9:g.66948396C>T

Select item 148922191112.

rs1489221911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66910827 (GRCh38)
16:66944730 (GRCh37)
Canonical SPDI:: NC_000016.10:66910826:C:T
Gene:: CDH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.66910827C>T, NC_000016.9:g.66944730C>T

Select item 148909999813.

rs1489099998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66916027 (GRCh38)
16:66949930 (GRCh37)
Canonical SPDI:: NC_000016.10:66916026:C:T
Gene:: CDH16 (Varview)
Functional Consequence:: intron_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_000016.10:g.66916027C>T, NC_000016.9:g.66949930C>T

Select item 148889310614.

rs1488893106 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:66909657 (GRCh38)
16:66943560 (GRCh37)
Canonical SPDI:: NC_000016.10:66909656:A:G
Gene:: CDH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.66909657A>G, NC_000016.9:g.66943560A>G

Select item 148887623315.

rs1488876233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66915771 (GRCh38)
16:66949674 (GRCh37)
Canonical SPDI:: NC_000016.10:66915770:C:T
Gene:: CDH16 (Varview)
Functional Consequence:: intron_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_000016.10:g.66915771C>T, NC_000016.9:g.66949674C>T

Select item 148859735016.

rs1488597350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:66910052 (GRCh38)
16:66943955 (GRCh37)
Canonical SPDI:: NC_000016.10:66910051:G:C
Gene:: CDH16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.66910052G>C, NC_000016.9:g.66943955G>C, NM_004062.4:c.2209C>G, NM_004062.3:c.2209C>G, XM_005255770.3:c.1675C>G, XM_005255770.2:c.1675C>G, XM_005255770.1:c.1675C>G, NM_001204744.2:c.2143C>G, NM_001204744.1:c.2143C>G, NM_001204745.2:c.2092C>G, NM_001204745.1:c.2092C>G, XM_011522807.2:c.2020C>G, XM_011522807.1:c.2020C>G, NM_001204746.2:c.1918C>G, NM_001204746.1:c.1918C>G, XM_047433490.1:c.1999C>G, NP_004053.1:p.Pro737Ala, XP_005255827.1:p.Pro559Ala, NP_001191673.1:p.Pro715Ala, NP_001191674.1:p.Pro698Ala, XP_011521109.1:p.Pro674Ala, NP_001191675.1:p.Pro640Ala, XP_047289446.1:p.Pro667Ala

Select item 148850626317.

rs1488506263 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:66912771 (GRCh38)
16:66946674 (GRCh37)
Canonical SPDI:: NC_000016.10:66912770:T:G
Gene:: CDH16 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66912771T>G, NC_000016.9:g.66946674T>G, NM_004062.4:c.1175A>C, NM_004062.3:c.1175A>C, XM_005255770.3:c.641A>C, XM_005255770.2:c.641A>C, XM_005255770.1:c.641A>C, NM_001204744.2:c.1175A>C, NM_001204744.1:c.1175A>C, NM_001204745.2:c.1175A>C, NM_001204745.1:c.1175A>C, XM_011522807.2:c.1175A>C, XM_011522807.1:c.1175A>C, NM_001204746.2:c.884A>C, NM_001204746.1:c.884A>C, XM_047433490.1:c.965A>C, NP_004053.1:p.Gln392Pro, XP_005255827.1:p.Gln214Pro, NP_001191673.1:p.Gln392Pro, NP_001191674.1:p.Gln392Pro, XP_011521109.1:p.Gln392Pro, NP_001191675.1:p.Gln295Pro, XP_047289446.1:p.Gln322Pro

Select item 148835310518.

rs1488353105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:66910121 (GRCh38)
16:66944024 (GRCh37)
Canonical SPDI:: NC_000016.10:66910120:G:T
Gene:: CDH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66910121G>T, NC_000016.9:g.66944024G>T

Select item 148804780519.

rs1488047805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:66916185 (GRCh38)
16:66950088 (GRCh37)
Canonical SPDI:: NC_000016.10:66916184:C:T
Gene:: CDH16 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.66916185C>T, NC_000016.9:g.66950088C>T, NM_004062.4:c.304G>A, NM_004062.3:c.304G>A, NM_001204744.2:c.304G>A, NM_001204744.1:c.304G>A, NM_001204745.2:c.304G>A, NM_001204745.1:c.304G>A, XM_011522807.2:c.304G>A, XM_011522807.1:c.304G>A, NM_001204746.2:c.304G>A, NM_001204746.1:c.304G>A, XM_047433490.1:c.94G>A, NP_004053.1:p.Asp102Asn, NP_001191673.1:p.Asp102Asn, NP_001191674.1:p.Asp102Asn, XP_011521109.1:p.Asp102Asn, NP_001191675.1:p.Asp102Asn, XP_047289446.1:p.Asp32Asn

Select item 148745312220.

rs1487453122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:66908674 (GRCh38)
16:66942577 (GRCh37)
Canonical SPDI:: NC_000016.10:66908673:G:T
Gene:: CDH16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000016.10:g.66908674G>T, NC_000016.9:g.66942577G>T

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