SNP Links for Gene (Select 645455) - SNP

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Select item 14914818821.

rs1491481882 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:118530932 (GRCh38)
4:119452088 (GRCh37)
Canonical SPDI:: NC_000004.12:118530932:T:TT
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118530933dup, NC_000004.11:g.119452088dup

Select item 14914792342.

rs1491479234 has merged into rs1045742912 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 4:118519903 (GRCh38)
4:119441058 (GRCh37)
Canonical SPDI:: NC_000004.12:118519896:AAAAAAAA:AAAAAA,NC_000004.12:118519896:AAAAAAAA:AAAAAAA,NC_000004.12:118519896:AAAAAAAA:AAAAAAAAA,NC_000004.12:118519896:AAAAAAAA:AAAAAAAAAA
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
A=0.000318/5 (TOMMO)
HGVS:: NC_000004.12:g.118519903_118519904del, NC_000004.12:g.118519904del, NC_000004.12:g.118519904dup, NC_000004.12:g.118519903_118519904dup, NC_000004.11:g.119441058_119441059del, NC_000004.11:g.119441059del, NC_000004.11:g.119441059dup, NC_000004.11:g.119441058_119441059dup

Select item 14913097343.

rs1491309734 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:118530936 (GRCh38)
4:119452091 (GRCh37)
Canonical SPDI:: NC_000004.12:118530931:ATATAT:ATAT
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.118530932AT[2], NC_000004.11:g.119452087AT[2]

Select item 14910537684.

rs1491053768 has merged into rs202013429 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 4:118515432 (GRCh38)
4:119436587 (GRCh37)
Canonical SPDI:: NC_000004.12:118515421:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:118515421:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:118515421:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:118515421:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:118515421:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:118515421:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:118515421:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: CEP170P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.3608/1807 (1000Genomes)
HGVS:: NC_000004.12:g.118515432_118515433del, NC_000004.12:g.118515433del, NC_000004.12:g.118515433dup, NC_000004.12:g.118515432_118515433dup, NC_000004.12:g.118515431_118515433dup, NC_000004.12:g.118515430_118515433dup, NC_000004.12:g.118515429_118515433dup, NC_000004.11:g.119436587_119436588del, NC_000004.11:g.119436588del, NC_000004.11:g.119436588dup, NC_000004.11:g.119436587_119436588dup, NC_000004.11:g.119436586_119436588dup, NC_000004.11:g.119436585_119436588dup, NC_000004.11:g.119436584_119436588dup

Select item 14907334975.

rs1490733497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:118514418 (GRCh38)
4:119435573 (GRCh37)
Canonical SPDI:: NC_000004.12:118514417:G:A
Gene:: CEP170P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.118514418G>A, NC_000004.11:g.119435573G>A

Select item 14906926576.

rs1490692657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:118536117 (GRCh38)
4:119457272 (GRCh37)
Canonical SPDI:: NC_000004.12:118536116:A:G
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118536117A>G, NC_000004.11:g.119457272A>G

Select item 14906422937.

rs1490642293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:118523358 (GRCh38)
4:119444513 (GRCh37)
Canonical SPDI:: NC_000004.12:118523357:T:C
Gene:: CEP170P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.118523358T>C, NC_000004.11:g.119444513T>C, NR_003135.3:n.101T>C, NR_003135.2:n.86T>C, NM_153243.2:c.2T>C, NM_153243.1:c.-359T>C

Select item 14906376668.

rs1490637666 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCTCTGATGT>- [Show Flanks]
Chromosome:: 4:118518278 (GRCh38)
4:119439433 (GRCh37)
Canonical SPDI:: NC_000004.12:118518273:ATGTTTCTCTGATGT:ATGT
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATGT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118518278_118518288del, NC_000004.11:g.119439433_119439443del

Select item 14905887679.

rs1490588767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:118520536 (GRCh38)
4:119441691 (GRCh37)
Canonical SPDI:: NC_000004.12:118520535:A:C
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118520536A>C, NC_000004.11:g.119441691A>C

Select item 149058845010.

rs1490588450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 4:118530443 (GRCh38)
4:119451598 (GRCh37)
Canonical SPDI:: NC_000004.12:118530442:T:A,NC_000004.12:118530442:T:G
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118530443T>A, NC_000004.12:g.118530443T>G, NC_000004.11:g.119451598T>A, NC_000004.11:g.119451598T>G

Select item 149057135211.

rs1490571352 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 4:118514926 (GRCh38)
4:119436081 (GRCh37)
Canonical SPDI:: NC_000004.12:118514925:C:
Gene:: CEP170P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118514926del, NC_000004.11:g.119436081del

Select item 149046884812.

rs1490468848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:118537453 (GRCh38)
4:119458608 (GRCh37)
Canonical SPDI:: NC_000004.12:118537452:A:G
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118537453A>G, NC_000004.11:g.119458608A>G

Select item 149044600213.

rs1490446002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:118522719 (GRCh38)
4:119443874 (GRCh37)
Canonical SPDI:: NC_000004.12:118522718:T:G
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.118522719T>G, NC_000004.11:g.119443874T>G

Select item 149040236414.

rs1490402364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:118538674 (GRCh38)
4:119459829 (GRCh37)
Canonical SPDI:: NC_000004.12:118538673:T:G
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.118538674T>G, NC_000004.11:g.119459829T>G

Select item 149036464015.

rs1490364640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:118554604 (GRCh38)
4:119475759 (GRCh37)
Canonical SPDI:: NC_000004.12:118554603:C:T
Gene:: CEP170P1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118554604C>T, NC_000004.11:g.119475759C>T

Select item 149026044116.

rs1490260441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:118522461 (GRCh38)
4:119443616 (GRCh37)
Canonical SPDI:: NC_000004.12:118522460:C:T
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118522461C>T, NC_000004.11:g.119443616C>T

Select item 149021650317.

rs1490216503 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:118530558 (GRCh38)
4:119451713 (GRCh37)
Canonical SPDI:: NC_000004.12:118530557:A:T
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118530558A>T, NC_000004.11:g.119451713A>T

Select item 149014594418.

rs1490145944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:118520758 (GRCh38)
4:119441913 (GRCh37)
Canonical SPDI:: NC_000004.12:118520757:T:A
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.118520758T>A, NC_000004.11:g.119441913T>A

Select item 149011735519.

rs1490117355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:118521739 (GRCh38)
4:119442894 (GRCh37)
Canonical SPDI:: NC_000004.12:118521738:A:G
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.118521739A>G, NC_000004.11:g.119442894A>G

Select item 149011688320.

rs1490116883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:118542563 (GRCh38)
4:119463718 (GRCh37)
Canonical SPDI:: NC_000004.12:118542562:T:C
Gene:: CEP170P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118542563T>C, NC_000004.11:g.119463718T>C

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