SNP Links for Gene (Select 134359) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915661921.

rs1491566192 [Homo sapiens]

Variant type:: INS
Alleles:: ->GGT,GT [Show Flanks]
Chromosome:: 5:75716396 (GRCh38)
5:75012222 (GRCh37)
Canonical SPDI:: NC_000005.10:75716396::GGT,NC_000005.10:75716396::GT
Gene:: POC5 (Varview), LOC441087 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GT=0.00008/1 (ALFA)
GT=0.00009/7 (GnomAD)
HGVS:: NC_000005.10:g.75716396_75716397insGGT, NC_000005.10:g.75716396_75716397insGT, NC_000005.9:g.75012221_75012222insGGT, NC_000005.9:g.75012221_75012222insGT

Select item 14915363122.

rs1491536312 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 5:75693098 (GRCh38)
5:74988924 (GRCh37)
Canonical SPDI:: NC_000005.10:75693098:T:TGTT
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTT=0./0 (ALFA)
TGT=0.00003/2 (GnomAD)
HGVS:: NC_000005.10:g.75693099_75693100insGTT, NC_000005.9:g.74988924_74988925insGTT

Select item 14913991903.

rs1491399190 has merged into rs373819320 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:75704165 (GRCh38)
5:74999990 (GRCh37)
Canonical SPDI:: NC_000005.10:75704153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:75704153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:75704153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:75704153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:75704153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:75704153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:75704153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:75704153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:75704153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:75704153:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.75704165_75704170del, NC_000005.10:g.75704166_75704170del, NC_000005.10:g.75704167_75704170del, NC_000005.10:g.75704168_75704170del, NC_000005.10:g.75704169_75704170del, NC_000005.10:g.75704170del, NC_000005.10:g.75704170dup, NC_000005.10:g.75704169_75704170dup, NC_000005.10:g.75704168_75704170dup, NC_000005.10:g.75704160_75704170dup, NC_000005.9:g.74999990_74999995del, NC_000005.9:g.74999991_74999995del, NC_000005.9:g.74999992_74999995del, NC_000005.9:g.74999993_74999995del, NC_000005.9:g.74999994_74999995del, NC_000005.9:g.74999995del, NC_000005.9:g.74999995dup, NC_000005.9:g.74999994_74999995dup, NC_000005.9:g.74999993_74999995dup, NC_000005.9:g.74999985_74999995dup

Select item 14913158474.

rs1491315847 has merged into rs397998177 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 5:75716397 (GRCh38)
5:75012222 (GRCh37)
Canonical SPDI:: NC_000005.10:75716395:GTG:G
Gene:: POC5 (Varview), LOC441087 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00422/50 (ALFA)
-=0.00091/12 (TOMMO)
-=0.00111/2 (Korea1K)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000005.10:g.75716397_75716398del, NC_000005.9:g.75012222_75012223del

Select item 14913060815.

rs1491306081 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:75704153 (GRCh38)
5:74999978 (GRCh37)
Canonical SPDI:: NC_000005.10:75704152:CA:
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000005.10:g.75704153_75704154del, NC_000005.9:g.74999978_74999979del

Select item 14911604476.

rs1491160447 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:75673954 (GRCh38)
5:74969779 (GRCh37)
Canonical SPDI:: NC_000005.10:75673953:CA:
Gene:: POC5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0016/19 (ALFA)
HGVS:: NC_000005.10:g.75673954_75673955del, NC_000005.9:g.74969779_74969780del

Select item 14910941177.

rs1491094117 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:75705209 (GRCh38)
5:75001034 (GRCh37)
Canonical SPDI:: NC_000005.10:75705208:TT:
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0018/8 (ALFA)
-=0.0003/2 (1000Genomes)
HGVS:: NC_000005.10:g.75705209_75705210del, NC_000005.9:g.75001034_75001035del

Select item 14910814968.

rs1491081496 [Homo sapiens]

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

Select item 14910234629.

rs1491023462 has merged into rs58777768 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 5:75677635 (GRCh38)
5:74973460 (GRCh37)
Canonical SPDI:: NC_000005.10:75677621:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:75677621:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:75677621:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:75677621:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:75677621:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:75677621:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:75677621:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: POC5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3766/1886 (1000Genomes)
HGVS:: NC_000005.10:g.75677635_75677637del, NC_000005.10:g.75677636_75677637del, NC_000005.10:g.75677637del, NC_000005.10:g.75677637dup, NC_000005.10:g.75677636_75677637dup, NC_000005.10:g.75677635_75677637dup, NC_000005.10:g.75677634_75677637dup, NC_000005.9:g.74973460_74973462del, NC_000005.9:g.74973461_74973462del, NC_000005.9:g.74973462del, NC_000005.9:g.74973462dup, NC_000005.9:g.74973461_74973462dup, NC_000005.9:g.74973460_74973462dup, NC_000005.9:g.74973459_74973462dup

Select item 149093261510.

rs1490932615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:75708440 (GRCh38)
5:75004265 (GRCh37)
Canonical SPDI:: NC_000005.10:75708439:C:G
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.75708440C>G, NC_000005.9:g.75004265C>G

Select item 149089543711.

rs1490895437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:75677639 (GRCh38)
5:74973464 (GRCh37)
Canonical SPDI:: NC_000005.10:75677638:T:A,NC_000005.10:75677638:T:C,NC_000005.10:75677638:T:G
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.025667/75 (KOREAN)
HGVS:: NC_000005.10:g.75677639T>A, NC_000005.10:g.75677639T>C, NC_000005.10:g.75677639T>G, NC_000005.9:g.74973464T>A, NC_000005.9:g.74973464T>C, NC_000005.9:g.74973464T>G

Select item 149088321212.

rs1490883212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:75712205 (GRCh38)
5:75008030 (GRCh37)
Canonical SPDI:: NC_000005.10:75712204:C:G
Gene:: POC5 (Varview)
Functional Consequence:: 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_000005.10:g.75712205C>G, NC_000005.9:g.75008030C>G

Select item 149088071413.

rs1490880714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:75709487 (GRCh38)
5:75005312 (GRCh37)
Canonical SPDI:: NC_000005.10:75709486:A:T
Gene:: POC5 (Varview)
Functional Consequence:: 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_000005.10:g.75709487A>T, NC_000005.9:g.75005312A>T, NG_045915.1:g.213T>A

Select item 149082399214.

rs1490823992 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:75687820 (GRCh38)
5:74983645 (GRCh37)
Canonical SPDI:: NC_000005.10:75687819:T:G
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.75687820T>G, NC_000005.9:g.74983645T>G

Select item 149075762115.

rs1490757621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:75701395 (GRCh38)
5:74997220 (GRCh37)
Canonical SPDI:: NC_000005.10:75701394:A:C
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.75701395A>C, NC_000005.9:g.74997220A>C

Select item 149069064316.

rs1490690643 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:75700594 (GRCh38)
5:74996419 (GRCh37)
Canonical SPDI:: NC_000005.10:75700593:T:G
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.75700594T>G, NC_000005.9:g.74996419T>G

Select item 149064381317.

rs1490643813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:75700309 (GRCh38)
5:74996134 (GRCh37)
Canonical SPDI:: NC_000005.10:75700308:C:T
Gene:: POC5 (Varview)
Functional Consequence:: 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_000005.10:g.75700309C>T, NC_000005.9:g.74996134C>T

Select item 149060259018.

rs1490602590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:75697781 (GRCh38)
5:74993606 (GRCh37)
Canonical SPDI:: NC_000005.10:75697780:T:A
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.75697781T>A, NC_000005.9:g.74993606T>A

Select item 149059563619.

rs1490595636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:75686166 (GRCh38)
5:74981991 (GRCh37)
Canonical SPDI:: NC_000005.10:75686165:A:G
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.75686166A>G, NC_000005.9:g.74981991A>G

Select item 149059293020.

rs1490592930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:75701043 (GRCh38)
5:74996868 (GRCh37)
Canonical SPDI:: NC_000005.10:75701042:T:C
Gene:: POC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00225/63 (TOMMO)
HGVS:: NC_000005.10:g.75701043T>C, NC_000005.9:g.74996868T>C

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity