SNP Links for Gene (Select 105375556) - SNP

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Select item 14899203791.

rs1489920379 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:147673058 (GRCh38)
7:147370150 (GRCh37)
Canonical SPDI:: NC_000007.14:147673057:AA:A
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.147673059del, NC_000007.13:g.147370151del, NG_007092.3:g.1562059del, NR_133929.1:n.1064del, NR_133930.1:n.707del

Select item 14894798812.

rs1489479881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:147672961 (GRCh38)
7:147370053 (GRCh37)
Canonical SPDI:: NC_000007.14:147672960:T:G
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_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_000007.14:g.147672961T>G, NC_000007.13:g.147370053T>G, NG_007092.3:g.1561961T>G, NR_133929.1:n.966T>G, NR_133930.1:n.609T>G

Select item 14880827673.

rs1488082767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:147672170 (GRCh38)
7:147369262 (GRCh37)
Canonical SPDI:: NC_000007.14:147672169:T:C
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.147672170T>C, NC_000007.13:g.147369262T>C, NG_007092.3:g.1561170T>C

Select item 14879499304.

rs1487949930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:147672709 (GRCh38)
7:147369801 (GRCh37)
Canonical SPDI:: NC_000007.14:147672708:G:A
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.147672709G>A, NC_000007.13:g.147369801G>A, NG_007092.3:g.1561709G>A, NR_133929.1:n.714G>A, NR_133930.1:n.357G>A

Select item 14876570805.

rs1487657080 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:147672042 (GRCh38)
7:147369134 (GRCh37)
Canonical SPDI:: NC_000007.14:147672041:G:A
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.147672042G>A, NC_000007.13:g.147369134G>A, NG_007092.3:g.1561042G>A, NR_133929.1:n.364G>A

Select item 14875641356.

rs1487564135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:147671081 (GRCh38)
7:147368173 (GRCh37)
Canonical SPDI:: NC_000007.14:147671080:C:T
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.147671081C>T, NC_000007.13:g.147368173C>T, NG_007092.3:g.1560081C>T

Select item 14870260827.

rs1487026082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:147672949 (GRCh38)
7:147370041 (GRCh37)
Canonical SPDI:: NC_000007.14:147672948:A:G
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.147672949A>G, NC_000007.13:g.147370041A>G, NG_007092.3:g.1561949A>G, NR_133929.1:n.954A>G, NR_133930.1:n.597A>G

Select item 14864448968.

rs1486444896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:147670814 (GRCh38)
7:147367906 (GRCh37)
Canonical SPDI:: NC_000007.14:147670813:G:A
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.147670814G>A, NC_000007.13:g.147367906G>A, NG_007092.3:g.1559814G>A

Select item 14851640699.

rs1485164069 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:147669911 (GRCh38)
7:147367003 (GRCh37)
Canonical SPDI:: NC_000007.14:147669910:T:C
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.147669911T>C, NC_000007.13:g.147367003T>C, NG_007092.3:g.1558911T>C

Select item 148280709910.

rs1482807099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:147671756 (GRCh38)
7:147368848 (GRCh37)
Canonical SPDI:: NC_000007.14:147671755:G:T
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.147671756G>T, NC_000007.13:g.147368848G>T, NG_007092.3:g.1560756G>T, NR_133929.1:n.78G>T, NR_133930.1:n.78G>T

Select item 148271785811.

rs1482717858 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:147670947 (GRCh38)
7:147368040 (GRCh37)
Canonical SPDI:: NC_000007.14:147670947:A:AA
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.147670948dup, NC_000007.13:g.147368040dup, NG_007092.3:g.1559948dup

Select item 147950022212.

rs1479500222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:147672147 (GRCh38)
7:147369239 (GRCh37)
Canonical SPDI:: NC_000007.14:147672146:A:G,NC_000007.14:147672146:A:T
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000156/1 (1000Genomes)
T=0.000546/1 (Korea1K)
T=0.000672/11 (TOMMO)
T=0.001027/3 (KOREAN)
HGVS:: NC_000007.14:g.147672147A>G, NC_000007.14:g.147672147A>T, NC_000007.13:g.147369239A>G, NC_000007.13:g.147369239A>T, NG_007092.3:g.1561147A>G, NG_007092.3:g.1561147A>T

Select item 147798259513.

rs1477982595 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAT [Show Flanks]
Chromosome:: 7:147671532 (GRCh38)
7:147368625 (GRCh37)
Canonical SPDI:: NC_000007.14:147671532:TAGATAGAT:TAGATAGATAGAT
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAGATAGATAGAT=0./0 (ALFA)
TAGA=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.147671534AGAT[3], NC_000007.13:g.147368626AGAT[3], NG_007092.3:g.1560534AGAT[3]

Select item 147755639714.

rs1477556397 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:147671244 (GRCh38)
7:147368336 (GRCh37)
Canonical SPDI:: NC_000007.14:147671243:CCC:CC
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.147671246del, NC_000007.13:g.147368338del, NG_007092.3:g.1560246del

Select item 147688616815.

rs1476886168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:147671503 (GRCh38)
7:147368595 (GRCh37)
Canonical SPDI:: NC_000007.14:147671502:A:G,NC_000007.14:147671502:A:T
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.147671503A>G, NC_000007.14:g.147671503A>T, NC_000007.13:g.147368595A>G, NC_000007.13:g.147368595A>T, NG_007092.3:g.1560503A>G, NG_007092.3:g.1560503A>T

Select item 147656735116.

rs1476567351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:147670936 (GRCh38)
7:147368028 (GRCh37)
Canonical SPDI:: NC_000007.14:147670935:G:A
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.147670936G>A, NC_000007.13:g.147368028G>A, NG_007092.3:g.1559936G>A

Select item 147651249017.

rs1476512490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:147670003 (GRCh38)
7:147367095 (GRCh37)
Canonical SPDI:: NC_000007.14:147670002:A:G
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.147670003A>G, NC_000007.13:g.147367095A>G, NG_007092.3:g.1559003A>G

Select item 147558720018.

rs1475587200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:147670425 (GRCh38)
7:147367517 (GRCh37)
Canonical SPDI:: NC_000007.14:147670424:G:A
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.147670425G>A, NC_000007.13:g.147367517G>A, NG_007092.3:g.1559425G>A

Select item 147549120619.

rs1475491206 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:147671872 (GRCh38)
7:147368964 (GRCh37)
Canonical SPDI:: NC_000007.14:147671871:A:G
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.147671872A>G, NC_000007.13:g.147368964A>G, NG_007092.3:g.1560872A>G, NR_133929.1:n.194A>G

Select item 147516701420.

rs1475167014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:147671107 (GRCh38)
7:147368199 (GRCh37)
Canonical SPDI:: NC_000007.14:147671106:C:T
Gene:: CNTNAP2 (Varview), LOC105375556 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.147671107C>T, NC_000007.13:g.147368199C>T, NG_007092.3:g.1560107C>T