SNP Links for Gene (Select 2826) - SNP

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Select item 14913913691.

rs1491391369 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:42682021 (GRCh38)
17:40834039 (GRCh37)
Canonical SPDI:: NC_000017.11:42682019:AGA:A
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000214/29 (GnomAD)
-=0.000708/12 (TOMMO)
-=0.001092/2 (Korea1K)
HGVS:: NC_000017.11:g.42682021_42682022del, NC_000017.10:g.40834039_40834040del, NG_042091.1:g.4408_4409del

Select item 14913314912.

rs1491331491 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 17:42682006 (GRCh38)
17:40834024 (GRCh37)
Canonical SPDI:: NC_000017.11:42682005:CG:
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000232/1 (ALFA)
-=0.000113/12 (GnomAD)
HGVS:: NC_000017.11:g.42682006_42682007del, NC_000017.10:g.40834024_40834025del, NG_042091.1:g.4393_4394del

Select item 14912843293.

rs1491284329 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:42682006 (GRCh38)
17:40834025 (GRCh37)
Canonical SPDI:: NC_000017.11:42682006:G:GG
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00003/1 (GnomAD)
HGVS:: NC_000017.11:g.42682007dup, NC_000017.10:g.40834025dup, NG_042091.1:g.4394dup

Select item 14903008554.

rs1490300855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42682841 (GRCh38)
17:40834859 (GRCh37)
Canonical SPDI:: NC_000017.11:42682840:C:T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42682841C>T, NC_000017.10:g.40834859C>T, NG_042091.1:g.5228C>T, NM_003632.3:c.12C>T, NM_003632.2:c.12C>T

Select item 14902769445.

rs1490276944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42680104 (GRCh38)
17:40832122 (GRCh37)
Canonical SPDI:: NC_000017.11:42680103:T:C
Gene:: CCR10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42680104T>C, NC_000017.10:g.40832122T>C, NG_042091.1:g.2491T>C, NM_016602.3:c.538A>G, NM_016602.2:c.538A>G, NP_057686.2:p.Ser180Gly

Select item 14895151366.

rs1489515136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42682779 (GRCh38)
17:40834797 (GRCh37)
Canonical SPDI:: NC_000017.11:42682778:C:G
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.42682779C>G, NC_000017.10:g.40834797C>G, NG_042091.1:g.5166C>G, NM_003632.3:c.-51C>G, NM_003632.2:c.-51C>G

Select item 14892536797.

rs1489253679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42683486 (GRCh38)
17:40835504 (GRCh37)
Canonical SPDI:: NC_000017.11:42683485:T:C
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,intron_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_000017.11:g.42683486T>C, NC_000017.10:g.40835504T>C, NG_042091.1:g.5873T>C, XM_005257748.5:c.-364T>C, XM_005257748.4:c.-364T>C, XM_005257748.3:c.-364T>C, XM_005257748.2:c.-364T>C, XM_005257748.1:c.-364T>C

Select item 14881804018.

rs1488180401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42682543 (GRCh38)
17:40834561 (GRCh37)
Canonical SPDI:: NC_000017.11:42682542:T:C
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000017.11:g.42682543T>C, NC_000017.10:g.40834561T>C, NG_042091.1:g.4930T>C, NM_003632.3:c.-287T>C

Select item 14879937369.

rs1487993736 has merged into rs1447711795 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>-,GAAAGAAA [Show Flanks]
Chromosome:: 17:42682084 (GRCh38)
17:40834102 (GRCh37)
Canonical SPDI:: NC_000017.11:42682075:GAAAGAAAGAAA:GAAAGAAA,NC_000017.11:42682075:GAAAGAAAGAAA:GAAAGAAAGAAAGAAA
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAAGAAAGAAAGAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.42682076GAAA[2], NC_000017.11:g.42682076GAAA[4], NC_000017.10:g.40834094GAAA[2], NC_000017.10:g.40834094GAAA[4], NG_042091.1:g.4463GAAA[2], NG_042091.1:g.4463GAAA[4]

Select item 148625345410.

rs1486253454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42679279 (GRCh38)
17:40831297 (GRCh37)
Canonical SPDI:: NC_000017.11:42679278:G:A
Gene:: CCR10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42679279G>A, NC_000017.10:g.40831297G>A, NG_042091.1:g.1666G>A, NM_016602.3:c.*274C>T

Select item 148624391911.

rs1486243919 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 17:42682027 (GRCh38)
17:40834045 (GRCh37)
Canonical SPDI:: NC_000017.11:42682018:AAGAAGAAGAA:AAGAAGAA
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAGAAGAA=0.000253/3 (ALFA)
-=0.000121/17 (GnomAD)
HGVS:: NC_000017.11:g.42682021GAA[2], NC_000017.10:g.40834039GAA[2], NG_042091.1:g.4408GAA[2]

Select item 148570605712.

rs1485706057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42681638 (GRCh38)
17:40833656 (GRCh37)
Canonical SPDI:: NC_000017.11:42681637:C:G
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42681638C>G, NC_000017.10:g.40833656C>G, NG_042091.1:g.4025C>G

Select item 148510608213.

rs1485106082 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42679484 (GRCh38)
17:40831502 (GRCh37)
Canonical SPDI:: NC_000017.11:42679483:C:T
Gene:: CCR10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.42679484C>T, NC_000017.10:g.40831502C>T, NG_042091.1:g.1871C>T, NM_016602.3:c.*69G>A, NM_016602.2:c.*69G>A

Select item 148471846714.

rs1484718467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:42681087 (GRCh38)
17:40833105 (GRCh37)
Canonical SPDI:: NC_000017.11:42681086:G:T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42681087G>T, NC_000017.10:g.40833105G>T, NG_042091.1:g.3474G>T

Select item 148412832915.

rs1484128329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42678996 (GRCh38)
17:40831014 (GRCh37)
Canonical SPDI:: NC_000017.11:42678995:C:G
Gene:: CCR10 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000071/2 (TOMMO)
HGVS:: NC_000017.11:g.42678996C>G, NC_000017.10:g.40831014C>G, NG_042091.1:g.1383C>G, NM_016602.3:c.*557G>C

Select item 148392575316.

rs1483925753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42680193 (GRCh38)
17:40832211 (GRCh37)
Canonical SPDI:: NC_000017.11:42680192:G:A
Gene:: CCR10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42680193G>A, NC_000017.10:g.40832211G>A, NG_042091.1:g.2580G>A, NM_016602.3:c.449C>T, NM_016602.2:c.449C>T, NP_057686.2:p.Pro150Leu

Select item 148387587117.

rs1483875871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42682024 (GRCh38)
17:40834042 (GRCh37)
Canonical SPDI:: NC_000017.11:42682023:G:A
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000078/9 (GnomAD)
A=0.000106/2 (TOMMO)
A=0.016427/48 (KOREAN)
HGVS:: NC_000017.11:g.42682024G>A, NC_000017.10:g.40834042G>A, NG_042091.1:g.4411G>A

Select item 148355995218.

rs1483559952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42682574 (GRCh38)
17:40834592 (GRCh37)
Canonical SPDI:: NC_000017.11:42682573:G:A
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_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.42682574G>A, NC_000017.10:g.40834592G>A, NG_042091.1:g.4961G>A, NM_003632.3:c.-256G>A

Select item 148286531719.

rs1482865317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:42681847 (GRCh38)
17:40833865 (GRCh37)
Canonical SPDI:: NC_000017.11:42681846:G:A,NC_000017.11:42681846:G:T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42681847G>A, NC_000017.11:g.42681847G>T, NC_000017.10:g.40833865G>A, NC_000017.10:g.40833865G>T, NG_042091.1:g.4234G>A, NG_042091.1:g.4234G>T

Select item 148248124320.

rs1482481243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42683011 (GRCh38)
17:40835029 (GRCh37)
Canonical SPDI:: NC_000017.11:42683010:C:T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,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_000017.11:g.42683011C>T, NC_000017.10:g.40835029C>T, NG_042091.1:g.5398C>T, XM_005257748.5:c.-839C>T, XM_005257748.4:c.-839C>T, XM_005257748.3:c.-839C>T