SNP Links for Gene (Select 51654) - SNP

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Select item 14915806281.

rs1491580628 has merged into rs3050556 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 20:33373232 (GRCh38)
20:31961038 (GRCh37)
Canonical SPDI:: NC_000020.11:33373222:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000020.11:33373222:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000020.11:33373222:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000020.11:33373222:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000020.11:33373222:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000020.11:33373222:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:33373222:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:33373222:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:33373222:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.2997/1501 (1000Genomes)
TG=0.375/15 (GENOME_DK)
TG=0.4632/277 (NorthernSweden)
HGVS:: NC_000020.11:g.33373224GT[4], NC_000020.11:g.33373224GT[5], NC_000020.11:g.33373224GT[7], NC_000020.11:g.33373224GT[8], NC_000020.11:g.33373224GT[9], NC_000020.11:g.33373224GT[11], NC_000020.11:g.33373224GT[12], NC_000020.11:g.33373224GT[13], NC_000020.11:g.33373224GT[14], NC_000020.10:g.31961030GT[4], NC_000020.10:g.31961030GT[5], NC_000020.10:g.31961030GT[7], NC_000020.10:g.31961030GT[8], NC_000020.10:g.31961030GT[9], NC_000020.10:g.31961030GT[11], NC_000020.10:g.31961030GT[12], NC_000020.10:g.31961030GT[13], NC_000020.10:g.31961030GT[14]

Select item 14915801312.

rs1491580131 has merged into rs11471267 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:33365608 (GRCh38)
20:31953414 (GRCh37)
Canonical SPDI:: NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33365597:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.45/18 (GENOME_DK)
HGVS:: NC_000020.11:g.33365608_33365624del, NC_000020.11:g.33365610_33365624del, NC_000020.11:g.33365611_33365624del, NC_000020.11:g.33365612_33365624del, NC_000020.11:g.33365613_33365624del, NC_000020.11:g.33365614_33365624del, NC_000020.11:g.33365615_33365624del, NC_000020.11:g.33365616_33365624del, NC_000020.11:g.33365617_33365624del, NC_000020.11:g.33365620_33365624del, NC_000020.11:g.33365621_33365624del, NC_000020.11:g.33365622_33365624del, NC_000020.11:g.33365623_33365624del, NC_000020.11:g.33365624del, NC_000020.11:g.33365624dup, NC_000020.11:g.33365623_33365624dup, NC_000020.11:g.33365622_33365624dup, NC_000020.11:g.33365620_33365624dup, NC_000020.11:g.33365619_33365624dup, NC_000020.11:g.33365602_33365624dup, NC_000020.10:g.31953414_31953430del, NC_000020.10:g.31953416_31953430del, NC_000020.10:g.31953417_31953430del, NC_000020.10:g.31953418_31953430del, NC_000020.10:g.31953419_31953430del, NC_000020.10:g.31953420_31953430del, NC_000020.10:g.31953421_31953430del, NC_000020.10:g.31953422_31953430del, NC_000020.10:g.31953423_31953430del, NC_000020.10:g.31953426_31953430del, NC_000020.10:g.31953427_31953430del, NC_000020.10:g.31953428_31953430del, NC_000020.10:g.31953429_31953430del, NC_000020.10:g.31953430del, NC_000020.10:g.31953430dup, NC_000020.10:g.31953429_31953430dup, NC_000020.10:g.31953428_31953430dup, NC_000020.10:g.31953426_31953430dup, NC_000020.10:g.31953425_31953430dup, NC_000020.10:g.31953408_31953430dup

Select item 14914817613.

rs1491481761 [Homo sapiens]

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

Select item 14913027064.

rs1491302706 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:33361975 (GRCh38)
20:31949782 (GRCh37)
Canonical SPDI:: NC_000020.11:33361975:GG:GGG
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000307/5 (ALFA)
G=0.001949/259 (GnomAD)
HGVS:: NC_000020.11:g.33361977dup, NC_000020.10:g.31949783dup

Select item 14912375695.

rs1491237569 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:33365597 (GRCh38)
20:31953403 (GRCh37)
Canonical SPDI:: NC_000020.11:33365596:TA:
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000020.11:g.33365597_33365598del, NC_000020.10:g.31953403_31953404del

Select item 14911736616.

rs1491173661 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:33373222 (GRCh38)
20:31961028 (GRCh37)
Canonical SPDI:: NC_000020.11:33373221:AT:
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00055/1 (Korea1K)
-=0.00064/11 (TOMMO)
-=0.00069/45 (GnomAD)
HGVS:: NC_000020.11:g.33373222_33373223del, NC_000020.10:g.31961028_31961029del

Select item 14911640167.

rs1491164016 has merged into rs140253341 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAATAAAAAAAAAAAAATAAAAAAAAATAAAAAAAAAAAAAAAAAAAA,AAAAAAATAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:33372291 (GRCh38)
20:31960097 (GRCh37)
Canonical SPDI:: NC_000020.11:33372276:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:33372276:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:33372276:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:33372276:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:33372276:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:33372276:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:33372276:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33372276:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33372276:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAATAAAAAAAAATAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33372276:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAATAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3303/1654 (1000Genomes)
HGVS:: NC_000020.11:g.33372291_33372292del, NC_000020.11:g.33372292del, NC_000020.11:g.33372292dup, NC_000020.11:g.33372291_33372292dup, NC_000020.11:g.33372290_33372292dup, NC_000020.11:g.33372289_33372292dup, NC_000020.11:g.33372282_33372292dup, NC_000020.11:g.33372277_33372292A[25]TAAAAAAAAAAAAAAAAAAAAAAA[2]AA[1], NC_000020.11:g.33372277_33372292A[22]TAAAAAAAAAAAAATAAAAAAAAATAAAAAAAAAAAAAAAAAAAA[1], NC_000020.11:g.33372277_33372292A[21]TAAAAAA[2]A[20], NC_000020.10:g.31960097_31960098del, NC_000020.10:g.31960098del, NC_000020.10:g.31960098dup, NC_000020.10:g.31960097_31960098dup, NC_000020.10:g.31960096_31960098dup, NC_000020.10:g.31960095_31960098dup, NC_000020.10:g.31960088_31960098dup, NC_000020.10:g.31960083_31960098A[25]TAAAAAAAAAAAAAAAAAAAAAAA[2]AA[1], NC_000020.10:g.31960083_31960098A[22]TAAAAAAAAAAAAATAAAAAAAAATAAAAAAAAAAAAAAAAAAAA[1], NC_000020.10:g.31960083_31960098A[21]TAAAAAA[2]A[20]

Select item 14911103548.

rs1491110354 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:33388580 (GRCh38)
20:31976387 (GRCh37)
Canonical SPDI:: NC_000020.11:33388580::T
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000101/2 (TOMMO)
T=0.000112/13 (GnomAD)
T=0.001094/2 (Korea1K)
HGVS:: NC_000020.11:g.33388580_33388581insT, NC_000020.10:g.31976386_31976387insT

Select item 14910057689.

rs1491005768 has merged into rs34365439 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:33383754 (GRCh38)
20:31971560 (GRCh37)
Canonical SPDI:: NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33383741:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.33383754_33383762del, NC_000020.11:g.33383755_33383762del, NC_000020.11:g.33383756_33383762del, NC_000020.11:g.33383757_33383762del, NC_000020.11:g.33383758_33383762del, NC_000020.11:g.33383760_33383762del, NC_000020.11:g.33383761_33383762del, NC_000020.11:g.33383762del, NC_000020.11:g.33383762dup, NC_000020.11:g.33383761_33383762dup, NC_000020.11:g.33383760_33383762dup, NC_000020.11:g.33383759_33383762dup, NC_000020.10:g.31971560_31971568del, NC_000020.10:g.31971561_31971568del, NC_000020.10:g.31971562_31971568del, NC_000020.10:g.31971563_31971568del, NC_000020.10:g.31971564_31971568del, NC_000020.10:g.31971566_31971568del, NC_000020.10:g.31971567_31971568del, NC_000020.10:g.31971568del, NC_000020.10:g.31971568dup, NC_000020.10:g.31971567_31971568dup, NC_000020.10:g.31971566_31971568dup, NC_000020.10:g.31971565_31971568dup

Select item 149099800610.

rs1490998006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:33390274 (GRCh38)
20:31978080 (GRCh37)
Canonical SPDI:: NC_000020.11:33390273:C:A
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000674/8 (ALFA)
A=0.000259/34 (GnomAD)
A=0.213552/624 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.33390274C>A, NC_000020.10:g.31978080C>A

Select item 149096238411.

rs1490962384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:33383689 (GRCh38)
20:31971495 (GRCh37)
Canonical SPDI:: NC_000020.11:33383688:C:T
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33383689C>T, NC_000020.10:g.31971495C>T

Select item 149093887012.

rs1490938870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33360658 (GRCh38)
20:31948464 (GRCh37)
Canonical SPDI:: NC_000020.11:33360657:G:A
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.33360658G>A, NC_000020.10:g.31948464G>A

Select item 149071419913.

rs1490714199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33365882 (GRCh38)
20:31953688 (GRCh37)
Canonical SPDI:: NC_000020.11:33365881:A:G
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.33365882A>G, NC_000020.10:g.31953688A>G

Select item 149067226614.

rs1490672266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:33390420 (GRCh38)
20:31978226 (GRCh37)
Canonical SPDI:: NC_000020.11:33390419:G:C
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.33390420G>C, NC_000020.10:g.31978226G>C

Select item 149055185315.

rs1490551853 has merged into rs759479446 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:33366327 (GRCh38)
20:31954133 (GRCh37)
Canonical SPDI:: NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:33366318:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0./0 (GENOME_DK)
AAAAAA=0.01232/7 (NorthernSweden)
HGVS:: NC_000020.11:g.33366327_33366339del, NC_000020.11:g.33366328_33366339del, NC_000020.11:g.33366329_33366339del, NC_000020.11:g.33366330_33366339del, NC_000020.11:g.33366333_33366339del, NC_000020.11:g.33366334_33366339del, NC_000020.11:g.33366335_33366339del, NC_000020.11:g.33366336_33366339del, NC_000020.11:g.33366337_33366339del, NC_000020.11:g.33366338_33366339del, NC_000020.11:g.33366339del, NC_000020.11:g.33366339dup, NC_000020.11:g.33366338_33366339dup, NC_000020.11:g.33366337_33366339dup, NC_000020.11:g.33366336_33366339dup, NC_000020.11:g.33366335_33366339dup, NC_000020.11:g.33366334_33366339dup, NC_000020.10:g.31954133_31954145del, NC_000020.10:g.31954134_31954145del, NC_000020.10:g.31954135_31954145del, NC_000020.10:g.31954136_31954145del, NC_000020.10:g.31954139_31954145del, NC_000020.10:g.31954140_31954145del, NC_000020.10:g.31954141_31954145del, NC_000020.10:g.31954142_31954145del, NC_000020.10:g.31954143_31954145del, NC_000020.10:g.31954144_31954145del, NC_000020.10:g.31954145del, NC_000020.10:g.31954145dup, NC_000020.10:g.31954144_31954145dup, NC_000020.10:g.31954143_31954145dup, NC_000020.10:g.31954142_31954145dup, NC_000020.10:g.31954141_31954145dup, NC_000020.10:g.31954140_31954145dup

Select item 149052177116.

rs1490521771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33381173 (GRCh38)
20:31968979 (GRCh37)
Canonical SPDI:: NC_000020.11:33381172:A:G
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000020.11:g.33381173A>G, NC_000020.10:g.31968979A>G

Select item 149044513917.

rs1490445139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:33374396 (GRCh38)
20:31962202 (GRCh37)
Canonical SPDI:: NC_000020.11:33374395:A:G
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.33374396A>G, NC_000020.10:g.31962202A>G

Select item 149039689818.

rs1490396898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:33390801 (GRCh38)
20:31978607 (GRCh37)
Canonical SPDI:: NC_000020.11:33390800:G:A
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.33390801G>A, NC_000020.10:g.31978607G>A

Select item 149035039419.

rs1490350394 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:33389585 (GRCh38)
20:31977391 (GRCh37)
Canonical SPDI:: NC_000020.11:33389584:T:G
Gene:: CDK5RAP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00034/4 (ALFA)
G=0.012/35 (KOREAN)
HGVS:: NC_000020.11:g.33389585T>G, NC_000020.10:g.31977391T>G

Select item 149032118020.

rs1490321180 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:33402514 (GRCh38)
20:31990320 (GRCh37)
Canonical SPDI:: NC_000020.11:33402513:C:A,NC_000020.11:33402513:C:T
Gene:: CDK5RAP1 (Varview), LOC124904889 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.33402514C>A, NC_000020.11:g.33402514C>T, NC_000020.10:g.31990320C>A, NC_000020.10:g.31990320C>T

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