SNP Links for Gene (Select 79937) - SNP

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Select item 14915811171.

rs1491581117 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGT [Show Flanks]
Chromosome:: 9:39146753 (GRCh38)
9:39146751 (GRCh37)
Canonical SPDI:: NC_000009.12:39146753:GT:GTGGGT
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGGGT=0./0 (ALFA)
GTGG=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.39146755_39146756insGGGT, NC_000009.11:g.39146752_39146753insGGGT

Select item 14915598042.

rs1491559804 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTGTA [Show Flanks]
Chromosome:: 9:39147794 (GRCh38)
9:39147792 (GRCh37)
Canonical SPDI:: NC_000009.12:39147794:TAGTTTTGTA:TAGTTTTGTAGTTTTGTA
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAGTTTTGTAGTTTTGTA=0./0 (ALFA)
TAGTTTTG=0.000011/3 (TOPMED)
TAGTTTTG=0.0001/14 (GnomAD)
HGVS:: NC_000009.12:g.39147797_39147804dup, NC_000009.11:g.39147794_39147801dup

Select item 14915464733.

rs1491546473 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 9:39091172 (GRCh38)
9:39091170 (GRCh37)
Canonical SPDI:: NC_000009.12:39091172:T:TCT
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.00004/3 (GnomAD)
HGVS:: NC_000009.12:g.39091173_39091174insCT, NC_000009.11:g.39091170_39091171insCT

Select item 14915317694.

rs1491531769 has merged into rs916761340 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT [Show Flanks]
Chromosome:: 9:39179283 (GRCh38)
9:39179280 (GRCh37)
Canonical SPDI:: NC_000009.12:39179272:CTCTCTCTCTCTCT:CTCTCTCTCT,NC_000009.12:39179272:CTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000009.12:39179272:CTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT,NC_000009.12:39179272:CTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCT
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCTCTCT=0./0 (ALFA)
CT=0.00012/2 (TOMMO)
HGVS:: NC_000009.12:g.39179273CT[5], NC_000009.12:g.39179273CT[6], NC_000009.12:g.39179273CT[8], NC_000009.12:g.39179273CT[9], NC_000009.11:g.39179270CT[5], NC_000009.11:g.39179270CT[6], NC_000009.11:g.39179270CT[8], NC_000009.11:g.39179270CT[9]

Select item 14915143745.

rs1491514374 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:39179286 (GRCh38)
9:39179283 (GRCh37)
Canonical SPDI:: NC_000009.12:39179285:TA:
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000009.12:g.39179286_39179287del, NC_000009.11:g.39179283_39179284del

Select item 14915046316.

rs1491504631 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:39161843 (GRCh38)
9:39161840 (GRCh37)
Canonical SPDI:: NC_000009.12:39161842:CA:
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000009.12:g.39161843_39161844del, NC_000009.11:g.39161840_39161841del

Select item 14914276867.

rs1491427686 has merged into rs532194367 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACATACACACACACA,CACATACACACACACA,CACATACACACACACACACA [Show Flanks]
Chromosome:: 9:39105875 (GRCh38)
9:39105872 (GRCh37)
Canonical SPDI:: NC_000009.12:39105868:CACACACACA:CACACA,NC_000009.12:39105868:CACACACACA:CACACACA,NC_000009.12:39105868:CACACACACA:CACACACACACA,NC_000009.12:39105868:CACACACACA:CACACACACACATACACACACACA,NC_000009.12:39105868:CACACACACA:CACACACACATACACACACACA,NC_000009.12:39105868:CACACACACA:CACACACACATACACACACACACACA
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACA=0./0 (ALFA)
CACACACACATA=0.04673/776 (TOMMO)
CACACACACATA=0.17672/885 (1000Genomes)
CACACACACATA=0.32064/320 (GoNL)
HGVS:: NC_000009.12:g.39105869CA[3], NC_000009.12:g.39105869CA[4], NC_000009.12:g.39105869CA[6], NC_000009.12:g.39105869_39105878CA[6]TACACACACACA[1], NC_000009.12:g.39105869_39105878CA[5]TACACACACACA[1], NC_000009.12:g.39105869_39105878CA[5]TACACACACACACACA[1], NC_000009.11:g.39105866CA[3], NC_000009.11:g.39105866CA[4], NC_000009.11:g.39105866CA[6], NC_000009.11:g.39105866_39105875CA[6]TACACACACACA[1], NC_000009.11:g.39105866_39105875CA[5]TACACACACACA[1], NC_000009.11:g.39105866_39105875CA[5]TACACACACACACACA[1]

Select item 14914150188.

rs1491415018 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:39287928 (GRCh38)
9:39287925 (GRCh37)
Canonical SPDI:: NC_000009.12:39287926:ACA:A
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/3 (ALFA)
-=0.00027/9 (GnomAD)
-=0.00032/2 (TOMMO)
-=0.00815/8 (Korea1K)
HGVS:: NC_000009.12:g.39287928_39287929del, NC_000009.11:g.39287925_39287926del

Select item 14913874289.

rs1491387428 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACACTC,ACACACACACTC,ACACACACTC,ACACACTC,ACACTC [Show Flanks]
Chromosome:: 9:39104520 (GRCh38)
9:39104518 (GRCh37)
Canonical SPDI:: NC_000009.12:39104520:C:CACACACACACACTC,NC_000009.12:39104520:C:CACACACACACTC,NC_000009.12:39104520:C:CACACACACTC,NC_000009.12:39104520:C:CACACACTC,NC_000009.12:39104520:C:CACACTC
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACTC=0./0 (ALFA)
HGVS:: NC_000009.12:g.39104521CA[6]CTC[1], NC_000009.12:g.39104521CA[5]CTC[1], NC_000009.12:g.39104521CA[4]CTC[1], NC_000009.12:g.39104521CA[3]CTC[1], NC_000009.12:g.39104521CA[2]CTC[1], NC_000009.11:g.39104518CA[6]CTC[1], NC_000009.11:g.39104518CA[5]CTC[1], NC_000009.11:g.39104518CA[4]CTC[1], NC_000009.11:g.39104518CA[3]CTC[1], NC_000009.11:g.39104518CA[2]CTC[1]

Select item 149132773110.

rs1491327731 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:39082099 (GRCh38)
9:39082096 (GRCh37)
Canonical SPDI:: NC_000009.12:39082097:ACA:A
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002529/30 (ALFA)
-=0.002122/289 (GnomAD)
HGVS:: NC_000009.12:g.39082099_39082100del, NC_000009.11:g.39082096_39082097del

Select item 149130634211.

rs1491306342 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:39108284 (GRCh38)
9:39108281 (GRCh37)
Canonical SPDI:: NC_000009.12:39108279:CTCTCT:CTCT
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.39108280CT[2], NC_000009.11:g.39108277CT[2]

Select item 149125982912.

rs1491259829 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 9:39147795 (GRCh38)
9:39147792 (GRCh37)
Canonical SPDI:: NC_000009.12:39147793:ATA:A
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000009.12:g.39147795_39147796del, NC_000009.11:g.39147792_39147793del

Select item 149123361813.

rs1491233618 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 9:39079683 (GRCh38)
9:39079680 (GRCh37)
Canonical SPDI:: NC_000009.12:39079682:TC:
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000161/18 (GnomAD)
-=0.001249/8 (1000Genomes)
HGVS:: NC_000009.12:g.39079683_39079684del, NC_000009.11:g.39079680_39079681del

Select item 149120988614.

rs1491209886 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,CC,CCAC,CCACAC,CCACACAC,CCACACACAC,CCACACACACAC,CCACACACACACACAC,CTAC,CTACAC,CTACACAC,CTACACACAC,CTACACACACAC,CTACACACACACAC,CTACACACACACACAC,CTACACACACACACACAC,CTCTAC,CTCTACAC,CTCTACACAC,CTCTACACACAC,CTCTACACACACAC,CTCTACACACACACAC,CTCTACACACACACACAC [Show Flanks]
Chromosome:: 9:39179286 (GRCh38)
9:39179284 (GRCh37)
Canonical SPDI:: NC_000009.12:39179286::CA,NC_000009.12:39179286::CC,NC_000009.12:39179286::CCAC,NC_000009.12:39179286::CCACAC,NC_000009.12:39179286::CCACACAC,NC_000009.12:39179286::CCACACACAC,NC_000009.12:39179286::CCACACACACAC,NC_000009.12:39179286::CCACACACACACACAC,NC_000009.12:39179286::CTAC,NC_000009.12:39179286::CTACAC,NC_000009.12:39179286::CTACACAC,NC_000009.12:39179286::CTACACACAC,NC_000009.12:39179286::CTACACACACAC,NC_000009.12:39179286::CTACACACACACAC,NC_000009.12:39179286::CTACACACACACACAC,NC_000009.12:39179286::CTACACACACACACACAC,NC_000009.12:39179286::CTCTAC,NC_000009.12:39179286::CTCTACAC,NC_000009.12:39179286::CTCTACACAC,NC_000009.12:39179286::CTCTACACACAC,NC_000009.12:39179286::CTCTACACACACAC,NC_000009.12:39179286::CTCTACACACACACAC,NC_000009.12:39179286::CTCTACACACACACACAC
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCAC=0./0 (ALFA)
CTCTACACACACACACAC=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.39179286_39179287insCA, NC_000009.12:g.39179286_39179287insCC, NC_000009.12:g.39179286_39179287insCCAC, NC_000009.12:g.39179286_39179287insCCACAC, NC_000009.12:g.39179286_39179287insCCACACAC, NC_000009.12:g.39179286_39179287insCCACACACAC, NC_000009.12:g.39179286_39179287insCCACACACACAC, NC_000009.12:g.39179286_39179287insCCACACACACACACAC, NC_000009.12:g.39179286_39179287insCTAC, NC_000009.12:g.39179286_39179287insCTACAC, NC_000009.12:g.39179286_39179287insCTACACAC, NC_000009.12:g.39179286_39179287insCTACACACAC, NC_000009.12:g.39179286_39179287insCTACACACACAC, NC_000009.12:g.39179286_39179287insCTACACACACACAC, NC_000009.12:g.39179286_39179287insCTACACACACACACAC, NC_000009.12:g.39179286_39179287insCTACACACACACACACAC, NC_000009.12:g.39179286_39179287insCTCTAC, NC_000009.12:g.39179286_39179287insCTCTACAC, NC_000009.12:g.39179286_39179287insCTCTACACAC, NC_000009.12:g.39179286_39179287insCTCTACACACAC, NC_000009.12:g.39179286_39179287insCTCTACACACACAC, NC_000009.12:g.39179286_39179287insCTCTACACACACACAC, NC_000009.12:g.39179286_39179287insCTCTACACACACACACAC, NC_000009.11:g.39179283_39179284insCA, NC_000009.11:g.39179283_39179284insCC, NC_000009.11:g.39179283_39179284insCCAC, NC_000009.11:g.39179283_39179284insCCACAC, NC_000009.11:g.39179283_39179284insCCACACAC, NC_000009.11:g.39179283_39179284insCCACACACAC, NC_000009.11:g.39179283_39179284insCCACACACACAC, NC_000009.11:g.39179283_39179284insCCACACACACACACAC, NC_000009.11:g.39179283_39179284insCTAC, NC_000009.11:g.39179283_39179284insCTACAC, NC_000009.11:g.39179283_39179284insCTACACAC, NC_000009.11:g.39179283_39179284insCTACACACAC, NC_000009.11:g.39179283_39179284insCTACACACACAC, NC_000009.11:g.39179283_39179284insCTACACACACACAC, NC_000009.11:g.39179283_39179284insCTACACACACACACAC, NC_000009.11:g.39179283_39179284insCTACACACACACACACAC, NC_000009.11:g.39179283_39179284insCTCTAC, NC_000009.11:g.39179283_39179284insCTCTACAC, NC_000009.11:g.39179283_39179284insCTCTACACAC, NC_000009.11:g.39179283_39179284insCTCTACACACAC, NC_000009.11:g.39179283_39179284insCTCTACACACACAC, NC_000009.11:g.39179283_39179284insCTCTACACACACACAC, NC_000009.11:g.39179283_39179284insCTCTACACACACACACAC

Select item 149120551615.

rs1491205516 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TACACACACA
Chromosome:: no mapping
Canonical SPDI:

Select item 149120433916.

rs1491204339 has merged into rs201329360 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTCTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:39091183 (GRCh38)
9:39091180 (GRCh37)
Canonical SPDI:: NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCTTCTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:39091171:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.13158/5 (GENOME_DK)
T=0.25479/1276 (1000Genomes)
HGVS:: NC_000009.12:g.39091183_39091186del, NC_000009.12:g.39091184_39091186del, NC_000009.12:g.39091185_39091186del, NC_000009.12:g.39091186del, NC_000009.12:g.39091186dup, NC_000009.12:g.39091185_39091186dup, NC_000009.12:g.39091184_39091186dup, NC_000009.12:g.39091183_39091186dup, NC_000009.12:g.39091182_39091186dup, NC_000009.12:g.39091181_39091186dup, NC_000009.12:g.39091180_39091186dup, NC_000009.12:g.39091179_39091186dup, NC_000009.12:g.39091178_39091186dup, NC_000009.12:g.39091172_39091186T[24]CTT[2]T[16], NC_000009.12:g.39091177_39091186dup, NC_000009.12:g.39091176_39091186dup, NC_000009.12:g.39091175_39091186dup, NC_000009.12:g.39091174_39091186dup, NC_000009.12:g.39091173_39091186dup, NC_000009.12:g.39091172_39091186dup, NC_000009.12:g.39091186_39091187insTTTTTTTTTTTTTTTT, NC_000009.12:g.39091186_39091187insTTTTTTTTTTTTTTTTT, NC_000009.12:g.39091186_39091187insTTTTTTTTTTTTTTTTTT, NC_000009.12:g.39091186_39091187insTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.39091186_39091187insTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.39091186_39091187insTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.39091186_39091187insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.39091186_39091187insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.39091180_39091183del, NC_000009.11:g.39091181_39091183del, NC_000009.11:g.39091182_39091183del, NC_000009.11:g.39091183del, NC_000009.11:g.39091183dup, NC_000009.11:g.39091182_39091183dup, NC_000009.11:g.39091181_39091183dup, NC_000009.11:g.39091180_39091183dup, NC_000009.11:g.39091179_39091183dup, NC_000009.11:g.39091178_39091183dup, NC_000009.11:g.39091177_39091183dup, NC_000009.11:g.39091176_39091183dup, NC_000009.11:g.39091175_39091183dup, NC_000009.11:g.39091169_39091183T[24]CTT[2]T[16], NC_000009.11:g.39091174_39091183dup, NC_000009.11:g.39091173_39091183dup, NC_000009.11:g.39091172_39091183dup, NC_000009.11:g.39091171_39091183dup, NC_000009.11:g.39091170_39091183dup, NC_000009.11:g.39091169_39091183dup, NC_000009.11:g.39091183_39091184insTTTTTTTTTTTTTTTT, NC_000009.11:g.39091183_39091184insTTTTTTTTTTTTTTTTT, NC_000009.11:g.39091183_39091184insTTTTTTTTTTTTTTTTTT, NC_000009.11:g.39091183_39091184insTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.39091183_39091184insTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.39091183_39091184insTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.39091183_39091184insTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.39091183_39091184insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149120256117.

rs1491202561 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:39104521 (GRCh38)
9:39104518 (GRCh37)
Canonical SPDI:: NC_000009.12:39104520:CT:
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000061/1 (ALFA)
-=0.000037/5 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.39104521_39104522del, NC_000009.11:g.39104518_39104519del

Select item 149118976718.

rs1491189767 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCT [Show Flanks]
Chromosome:: 9:39179273 (GRCh38)
9:39179271 (GRCh37)
Canonical SPDI:: NC_000009.12:39179273:TCT:TCTTCT
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTTCT=0./0 (ALFA)
HGVS:: NC_000009.12:g.39179274_39179276dup, NC_000009.11:g.39179271_39179273dup

Select item 149115822119.

rs1491158221 has merged into rs540267825 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:39161852 (GRCh38)
9:39161849 (GRCh37)
Canonical SPDI:: NC_000009.12:39161843:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:39161843:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:39161843:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:39161843:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:39161843:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:39161843:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:39161843:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:39161843:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:39161843:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.016827/84 (1000Genomes)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000009.12:g.39161852_39161861del, NC_000009.12:g.39161855_39161861del, NC_000009.12:g.39161858_39161861del, NC_000009.12:g.39161860_39161861del, NC_000009.12:g.39161861del, NC_000009.12:g.39161861dup, NC_000009.12:g.39161860_39161861dup, NC_000009.12:g.39161859_39161861dup, NC_000009.12:g.39161858_39161861dup, NC_000009.11:g.39161849_39161858del, NC_000009.11:g.39161852_39161858del, NC_000009.11:g.39161855_39161858del, NC_000009.11:g.39161857_39161858del, NC_000009.11:g.39161858del, NC_000009.11:g.39161858dup, NC_000009.11:g.39161857_39161858dup, NC_000009.11:g.39161856_39161858dup, NC_000009.11:g.39161855_39161858dup

Select item 149114820920.

rs1491148209 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAC [Show Flanks]
Chromosome:: 9:39287927 (GRCh38)
9:39287925 (GRCh37)
Canonical SPDI:: NC_000009.12:39287927::AAC
Gene:: CNTNAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAC=0./0 (ALFA)
HGVS:: NC_000009.12:g.39287927_39287928insAAC, NC_000009.11:g.39287924_39287925insAAC

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