SNP Links for Gene (Select 731157) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 876

<< First< Prev

Page of 44

Next >Last >>

Select item 14915538021.

rs1491553802 has merged into rs533512959 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 5:90409901 (GRCh38)
5:89705718 (GRCh37)
Canonical SPDI:: NC_000005.10:90409894:AAAAAAAAA:AAAAAA,NC_000005.10:90409894:AAAAAAAAA:AAAAAAA,NC_000005.10:90409894:AAAAAAAAA:AAAAAAAA,NC_000005.10:90409894:AAAAAAAAA:AAAAAAAAAA,NC_000005.10:90409894:AAAAAAAAA:AAAAAAAAAAA
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.031667/19 (NorthernSweden)
-=0.038339/192 (1000Genomes)
HGVS:: NC_000005.10:g.90409901_90409903del, NC_000005.10:g.90409902_90409903del, NC_000005.10:g.90409903del, NC_000005.10:g.90409903dup, NC_000005.10:g.90409902_90409903dup, NC_000005.9:g.89705718_89705720del, NC_000005.9:g.89705719_89705720del, NC_000005.9:g.89705720del, NC_000005.9:g.89705720dup, NC_000005.9:g.89705719_89705720dup

Select item 14915215232.

rs1491521523 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:90409903 (GRCh38)
5:89705720 (GRCh37)
Canonical SPDI:: NC_000005.10:90409902:AT:
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003504/57 (ALFA)
-=0.001133/5 (Estonian)
-=0.008325/1012 (GnomAD)
-=0.021812/13 (NorthernSweden)
-=0.028954/145 (1000Genomes)
-=0.110057/1740 (TOMMO)
HGVS:: NC_000005.10:g.90409903_90409904del, NC_000005.9:g.89705720_89705721del

Select item 14914623063.

rs1491462306 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:90409894 (GRCh38)
5:89705711 (GRCh37)
Canonical SPDI:: NC_000005.10:90409893:GA:
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.90409894_90409895del, NC_000005.9:g.89705711_89705712del

Select item 14910466414.

rs1491046641 has merged into rs148860433 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 5:90409908 (GRCh38)
5:89705725 (GRCh37)
Canonical SPDI:: NC_000005.10:90409903:TTTTTTTT:TTTT,NC_000005.10:90409903:TTTTTTTT:TTTTTT,NC_000005.10:90409903:TTTTTTTT:TTTTTTT,NC_000005.10:90409903:TTTTTTTT:TTTTTTTTT,NC_000005.10:90409903:TTTTTTTT:TTTTTTTTTT
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.11853/586 (1000Genomes)
-=0.12766/492 (ALSPAC)
-=0.12783/474 (TWINSUK)
-=0.155/93 (NorthernSweden)
-=0.1692/757 (Estonian)
-=0.20306/372 (Korea1K)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000005.10:g.90409908_90409911del, NC_000005.10:g.90409910_90409911del, NC_000005.10:g.90409911del, NC_000005.10:g.90409911dup, NC_000005.10:g.90409910_90409911dup, NC_000005.9:g.89705725_89705728del, NC_000005.9:g.89705727_89705728del, NC_000005.9:g.89705728del, NC_000005.9:g.89705728dup, NC_000005.9:g.89705727_89705728dup

Select item 14905442145.

rs1490544214 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 5:90409591 (GRCh38)
5:89705408 (GRCh37)
Canonical SPDI:: NC_000005.10:90409590:T:
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.90409591del, NC_000005.9:g.89705408del

Select item 14902149386.

rs1490214938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:90408912 (GRCh38)
5:89704729 (GRCh37)
Canonical SPDI:: NC_000005.10:90408911:T:C
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.90408912T>C, NC_000005.9:g.89704729T>C

Select item 14890322927.

rs1489032292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:90410962 (GRCh38)
5:89706779 (GRCh37)
Canonical SPDI:: NC_000005.10:90410961:A:T
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_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.90410962A>T, NC_000005.9:g.89706779A>T

Select item 14886841508.

rs1488684150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:90408907 (GRCh38)
5:89704724 (GRCh37)
Canonical SPDI:: NC_000005.10:90408906:T:C
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.90408907T>C, NC_000005.9:g.89704724T>C

Select item 14883140599.

rs1488314059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:90410146 (GRCh38)
5:89705963 (GRCh37)
Canonical SPDI:: NC_000005.10:90410145:C:G,NC_000005.10:90410145:C:T
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.90410146C>G, NC_000005.10:g.90410146C>T, NC_000005.9:g.89705963C>G, NC_000005.9:g.89705963C>T, NR_105024.1:n.147C>G, NR_105024.1:n.147C>T

Select item 148701175710.

rs1487011757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:90410360 (GRCh38)
5:89706177 (GRCh37)
Canonical SPDI:: NC_000005.10:90410359:G:A
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.90410360G>A, NC_000005.9:g.89706177G>A

Select item 148580916611.

rs1485809166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:90408818 (GRCh38)
5:89704635 (GRCh37)
Canonical SPDI:: NC_000005.10:90408817:G:A
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.90408818G>A, NC_000005.9:g.89704635G>A

Select item 148479318512.

rs1484793185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:90410942 (GRCh38)
5:89706759 (GRCh37)
Canonical SPDI:: NC_000005.10:90410941:G:A
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.90410942G>A, NC_000005.9:g.89706759G>A

Select item 148427735313.

rs1484277353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:90408152 (GRCh38)
5:89703969 (GRCh37)
Canonical SPDI:: NC_000005.10:90408151:C:G
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.90408152C>G, NC_000005.9:g.89703969C>G

Select item 148312252714.

rs1483122527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:90408498 (GRCh38)
5:89704315 (GRCh37)
Canonical SPDI:: NC_000005.10:90408497:G:A
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.90408498G>A, NC_000005.9:g.89704315G>A

Select item 148213596915.

rs1482135969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:90410158 (GRCh38)
5:89705975 (GRCh37)
Canonical SPDI:: NC_000005.10:90410157:C:T
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_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.90410158C>T, NC_000005.9:g.89705975C>T, NR_105024.1:n.159C>T

Select item 148200616116.

rs1482006161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:90408126 (GRCh38)
5:89703943 (GRCh37)
Canonical SPDI:: NC_000005.10:90408125:G:A
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.90408126G>A, NC_000005.9:g.89703943G>A

Select item 148198557017.

rs1481985570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:90409764 (GRCh38)
5:89705581 (GRCh37)
Canonical SPDI:: NC_000005.10:90409763:G:A
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.90409764G>A, NC_000005.9:g.89705581G>A, NM_004365.3:c.-103C>T, NM_004365.2:c.-103C>T, NM_001297765.1:c.-103C>T, NM_001297768.1:c.-103C>T

Select item 148069143718.

rs1480691437 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:90409654 (GRCh38)
5:89705471 (GRCh37)
Canonical SPDI:: NC_000005.10:90409653:AAA:AA
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.90409656del, NC_000005.9:g.89705473del, NM_004365.4:c.8del, NM_004365.3:c.8del, NM_004365.2:c.8del, NM_001297765.2:c.8del, NM_001297765.1:c.8del, NM_001297768.2:c.8del, NM_001297768.1:c.8del, NP_004356.2:p.Ser2_Leu3insTer, NP_001284694.1:p.Ser2_Leu3insTer, NP_001284697.1:p.Ser2_Leu3insTer

Select item 148045793819.

rs1480457938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:90409295 (GRCh38)
5:89705112 (GRCh37)
Canonical SPDI:: NC_000005.10:90409294:G:A
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.90409295G>A, NC_000005.9:g.89705112G>A

Select item 148016968920.

rs1480169689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:90409947 (GRCh38)
5:89705764 (GRCh37)
Canonical SPDI:: NC_000005.10:90409946:C:A,NC_000005.10:90409946:C:T
Gene:: CETN3 (Varview), LOC731157 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
T=0.000344/1 (KOREAN)
HGVS:: NC_000005.10:g.90409947C>A, NC_000005.10:g.90409947C>T, NC_000005.9:g.89705764C>A, NC_000005.9:g.89705764C>T