SNP Links for Gene (Select 101928700) - SNP

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Select item 14915639721.

rs1491563972 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATATATATATATACACATATATATGTATATATATAT [Show Flanks]
Chromosome:: 7:147083538 (GRCh38)
7:146780631 (GRCh37)
Canonical SPDI:: NC_000007.14:147083538:TATATATATATGTATATATATATATACACATATATATGTATATATATAT:TATATATATATGTATATATATATATACACATATATATGTATATATATATGTATATATATATATACACATATATATGTATATATATAT
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TATATATATATGTATATATATATATACACATATATATG=0.00004/1 (GnomAD)
HGVS:: NC_000007.14:g.147083550_147083587dup, NC_000007.13:g.146780642_146780679dup, NG_007092.3:g.972550_972587dup

Select item 14914496442.

rs1491449644 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGT [Show Flanks]
Chromosome:: 7:147096947 (GRCh38)
7:146794040 (GRCh37)
Canonical SPDI:: NC_000007.14:147096947:TGTGT:TGTGTGTGT
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
TGTG=0.000004/1 (TOPMED)
TGTG=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.147096949GT[4], NC_000007.13:g.146794041GT[4], NG_007092.3:g.985949GT[4]

Select item 14912550723.

rs1491255072 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:147090352 (GRCh38)
7:146787444 (GRCh37)
Canonical SPDI:: NC_000007.14:147090351:TT:
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.007587/90 (ALFA)
-=0.006667/4 (NorthernSweden)
-=0.007573/127 (TOMMO)
-=0.009815/1336 (GnomAD)
-=0.111053/428 (ALSPAC)
-=0.127562/473 (TWINSUK)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000007.14:g.147090352_147090353del, NC_000007.13:g.146787444_146787445del, NG_007092.3:g.979352_979353del

Select item 14911511994.

rs1491151199 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:147096947 (GRCh38)
7:146794039 (GRCh37)
Canonical SPDI:: NC_000007.14:147096946:AT:
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.147096947_147096948del, NC_000007.13:g.146794039_146794040del, NG_007092.3:g.985947_985948del

Select item 14905542605.

rs1490554260 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAT>- [Show Flanks]
Chromosome:: 7:147088953 (GRCh38)
7:146786045 (GRCh37)
Canonical SPDI:: NC_000007.14:147088944:AAATAAATAAAT:AAATAAAT
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAATAAAT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.147088945AAAT[2], NC_000007.13:g.146786037AAAT[2], NG_007092.3:g.977945AAAT[2]

Select item 14905272186.

rs1490527218 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:147091634 (GRCh38)
7:146788726 (GRCh37)
Canonical SPDI:: NC_000007.14:147091633:C:
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.147091634del, NC_000007.13:g.146788726del, NG_007092.3:g.980634del

Select item 14904589067.

rs1490458906 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:147083569 (GRCh38)
7:146780661 (GRCh37)
Canonical SPDI:: NC_000007.14:147083568:T:C
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000253/3 (ALFA)
C=0.000031/4 (GnomAD)
C=0.001674/3 (Korea1K)
C=0.005495/5 (KOREAN)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000007.14:g.147083569T>C, NC_000007.13:g.146780661T>C, NG_007092.3:g.972569T>C

Select item 14904056608.

rs1490405660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:147096030 (GRCh38)
7:146793122 (GRCh37)
Canonical SPDI:: NC_000007.14:147096029:C:A,NC_000007.14:147096029:C:T
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.147096030C>A, NC_000007.14:g.147096030C>T, NC_000007.13:g.146793122C>A, NC_000007.13:g.146793122C>T, NG_007092.3:g.985030C>A, NG_007092.3:g.985030C>T

Select item 14902965799.

rs1490296579 has merged into rs1292870298 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 7:147083792 (GRCh38)
7:146780884 (GRCh37)
Canonical SPDI:: NC_000007.14:147083785:TATATATA:TATATA,NC_000007.14:147083785:TATATATA:TATATATATA
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
-=0.000017/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.147083786TA[3], NC_000007.14:g.147083786TA[5], NC_000007.13:g.146780878TA[3], NC_000007.13:g.146780878TA[5], NG_007092.3:g.972786TA[3], NG_007092.3:g.972786TA[5]

Select item 149024394710.

rs1490243947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:147096538 (GRCh38)
7:146793630 (GRCh37)
Canonical SPDI:: NC_000007.14:147096537:A:C,NC_000007.14:147096537:A:T
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.00016/1 (1000Genomes)
HGVS:: NC_000007.14:g.147096538A>C, NC_000007.14:g.147096538A>T, NC_000007.13:g.146793630A>C, NC_000007.13:g.146793630A>T, NG_007092.3:g.985538A>C, NG_007092.3:g.985538A>T

Select item 149005448811.

rs1490054488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:147088174 (GRCh38)
7:146785266 (GRCh37)
Canonical SPDI:: NC_000007.14:147088173:A:G
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000007.14:g.147088174A>G, NC_000007.13:g.146785266A>G, NG_007092.3:g.977174A>G

Select item 148967760112.

rs1489677601 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:147089364 (GRCh38)
7:146786456 (GRCh37)
Canonical SPDI:: NC_000007.14:147089363:A:C,NC_000007.14:147089363:A:G
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.147089364A>C, NC_000007.14:g.147089364A>G, NC_000007.13:g.146786456A>C, NC_000007.13:g.146786456A>G, NG_007092.3:g.978364A>C, NG_007092.3:g.978364A>G

Select item 148948804113.

rs1489488041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:147082050 (GRCh38)
7:146779142 (GRCh37)
Canonical SPDI:: NC_000007.14:147082049:G:A
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.147082050G>A, NC_000007.13:g.146779142G>A, NG_007092.3:g.971050G>A, NR_110829.1:n.1029C>T

Select item 148940582314.

rs1489405823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:147084943 (GRCh38)
7:146782035 (GRCh37)
Canonical SPDI:: NC_000007.14:147084942:A:G
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (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_000007.14:g.147084943A>G, NC_000007.13:g.146782035A>G, NG_007092.3:g.973943A>G

Select item 148933374915.

rs1489333749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:147087157 (GRCh38)
7:146784249 (GRCh37)
Canonical SPDI:: NC_000007.14:147087156:C:A,NC_000007.14:147087156:C:T
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.147087157C>A, NC_000007.14:g.147087157C>T, NC_000007.13:g.146784249C>A, NC_000007.13:g.146784249C>T, NG_007092.3:g.976157C>A, NG_007092.3:g.976157C>T

Select item 148929221616.

rs1489292216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:147090703 (GRCh38)
7:146787795 (GRCh37)
Canonical SPDI:: NC_000007.14:147090702:A:G
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.147090703A>G, NC_000007.13:g.146787795A>G, NG_007092.3:g.979703A>G

Select item 148926647517.

rs1489266475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:147087642 (GRCh38)
7:146784734 (GRCh37)
Canonical SPDI:: NC_000007.14:147087641:G:A
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.147087642G>A, NC_000007.13:g.146784734G>A, NG_007092.3:g.976642G>A

Select item 148916721818.

rs1489167218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:147083929 (GRCh38)
7:146781021 (GRCh37)
Canonical SPDI:: NC_000007.14:147083928:G:A
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.147083929G>A, NC_000007.13:g.146781021G>A, NG_007092.3:g.972929G>A

Select item 148906071019.

rs1489060710 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT [Show Flanks]
Chromosome:: 7:147096997 (GRCh38)
7:146794089 (GRCh37)
Canonical SPDI:: NC_000007.14:147096995:TTTT:T,NC_000007.14:147096995:TTTT:TTT
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.147096997_147096999del, NC_000007.14:g.147096999del, NC_000007.13:g.146794089_146794091del, NC_000007.13:g.146794091del, NG_007092.3:g.985997_985999del, NG_007092.3:g.985999del

Select item 148884229320.

rs1488842293 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 7:147084254 (GRCh38)
7:146781346 (GRCh37)
Canonical SPDI:: NC_000007.14:147084251:ATAAT:AT
Gene:: CNTNAP2 (Varview), CNTNAP2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.147084254_147084256del, NC_000007.13:g.146781346_146781348del, NG_007092.3:g.973254_973256del

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