SNP Links for Gene (Select 8985) - SNP

Links from Gene

Items: 1 to 20 of 4396

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Select item 14909870581.

rs1490987058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:101216534 (GRCh38)
7:100859815 (GRCh37)
Canonical SPDI:: NC_000007.14:101216533:C:A
Gene:: PLOD3 (Varview), ZNHIT1 (Varview)
Functional Consequence:: stop_gained,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.101216534C>A, NC_000007.13:g.100859815C>A, NG_012148.1:g.6197G>T, NM_001084.5:c.214G>T, NM_001084.4:c.214G>T, NP_001075.1:p.Gly72Ter

Select item 14908765242.

rs1490876524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101206675 (GRCh38)
7:100849956 (GRCh37)
Canonical SPDI:: NC_000007.14:101206674:G:A
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101206675G>A, NC_000007.13:g.100849956G>A, NG_012148.1:g.16056C>T

Select item 14906608383.

rs1490660838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101217189 (GRCh38)
7:100860470 (GRCh37)
Canonical SPDI:: NC_000007.14:101217188:C:T
Gene:: PLOD3 (Varview), ZNHIT1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.101217189C>T, NC_000007.13:g.100860470C>T, NG_012148.1:g.5542G>A, NM_001084.5:c.86G>A, NM_001084.4:c.86G>A, NP_001075.1:p.Arg29Gln

Select item 14906457774.

rs1490645777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:101208183 (GRCh38)
7:100851464 (GRCh37)
Canonical SPDI:: NC_000007.14:101208182:T:C
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.101208183T>C, NC_000007.13:g.100851464T>C, NG_012148.1:g.14548A>G

Select item 14903930085.

rs1490393008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:101206407 (GRCh38)
7:100849688 (GRCh37)
Canonical SPDI:: NC_000007.14:101206406:G:C
Gene:: PLOD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101206407G>C, NC_000007.13:g.100849688G>C, NG_012148.1:g.16324C>G, NM_001084.5:c.2091C>G, NM_001084.4:c.2091C>G, NP_001075.1:p.Asp697Glu

Select item 14903774326.

rs1490377432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101214992 (GRCh38)
7:100858273 (GRCh37)
Canonical SPDI:: NC_000007.14:101214991:C:T
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.101214992C>T, NC_000007.13:g.100858273C>T, NG_012148.1:g.7739G>A

Select item 14903357227.

rs1490335722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:101209871 (GRCh38)
7:100853152 (GRCh37)
Canonical SPDI:: NC_000007.14:101209870:A:G
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.101209871A>G, NC_000007.13:g.100853152A>G, NG_012148.1:g.12860T>C

Select item 14901244878.

rs1490124487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101217663 (GRCh38)
7:100860944 (GRCh37)
Canonical SPDI:: NC_000007.14:101217662:G:A
Gene:: PLOD3 (Varview), ZNHIT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000007.14:g.101217663G>A, NC_000007.13:g.100860944G>A, NG_012148.1:g.5068C>T, NM_001084.4:c.-389C>T

Select item 14898354429.

rs1489835442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101207339 (GRCh38)
7:100850620 (GRCh37)
Canonical SPDI:: NC_000007.14:101207338:G:A
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.101207339G>A, NC_000007.13:g.100850620G>A, NG_012148.1:g.15392C>T

Select item 148955734710.

rs1489557347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101208316 (GRCh38)
7:100851597 (GRCh37)
Canonical SPDI:: NC_000007.14:101208315:G:A
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_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_000007.14:g.101208316G>A, NC_000007.13:g.100851597G>A, NG_012148.1:g.14415C>T

Select item 148952689211.

rs1489526892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:101207380 (GRCh38)
7:100850661 (GRCh37)
Canonical SPDI:: NC_000007.14:101207379:T:C
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000212/4 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.101207380T>C, NC_000007.13:g.100850661T>C, NG_012148.1:g.15351A>G

Select item 148951023812.

rs1489510238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101210059 (GRCh38)
7:100853340 (GRCh37)
Canonical SPDI:: NC_000007.14:101210058:G:A
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.101210059G>A, NC_000007.13:g.100853340G>A, NG_012148.1:g.12672C>T

Select item 148891891513.

rs1488918915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:101213145 (GRCh38)
7:100856426 (GRCh37)
Canonical SPDI:: NC_000007.14:101213144:T:A
Gene:: PLOD3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101213145T>A, NC_000007.13:g.100856426T>A, NG_012148.1:g.9586A>T, NM_001084.5:c.739A>T, NM_001084.4:c.739A>T, NP_001075.1:p.Thr247Ser

Select item 148867997714.

rs1488679977 has merged into rs201288319 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTTT [Show Flanks]
Chromosome:: 7:101214143 (GRCh38)
7:100857424 (GRCh37)
Canonical SPDI:: NC_000007.14:101214132:TTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:101214132:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:101214132:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:101214132:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0.02015/272 (ALFA)
-=0.08863/53 (NorthernSweden)
-=0.125/5 (GENOME_DK)
-=0.1875/939 (1000Genomes)
HGVS:: NC_000007.14:g.101214143_101214144del, NC_000007.14:g.101214144del, NC_000007.14:g.101214144dup, NC_000007.14:g.101214141_101214144dup, NC_000007.13:g.100857424_100857425del, NC_000007.13:g.100857425del, NC_000007.13:g.100857425dup, NC_000007.13:g.100857422_100857425dup, NG_012148.1:g.8597_8598del, NG_012148.1:g.8598del, NG_012148.1:g.8598dup, NG_012148.1:g.8595_8598dup

Select item 148867804815.

rs1488678048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:101213638 (GRCh38)
7:100856919 (GRCh37)
Canonical SPDI:: NC_000007.14:101213637:T:A
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.101213638T>A, NC_000007.13:g.100856919T>A, NG_012148.1:g.9093A>T

Select item 148842364216.

rs1488423642 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:101209149 (GRCh38)
7:100852430 (GRCh37)
Canonical SPDI:: NC_000007.14:101209148:GGG:GG
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000007.14:g.101209151del, NC_000007.13:g.100852432del, NG_012148.1:g.13582del

Select item 148767920317.

rs1487679203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101212228 (GRCh38)
7:100855509 (GRCh37)
Canonical SPDI:: NC_000007.14:101212227:C:T
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101212228C>T, NC_000007.13:g.100855509C>T, NG_012148.1:g.10503G>A

Select item 148764286918.

rs1487642869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:101207326 (GRCh38)
7:100850607 (GRCh37)
Canonical SPDI:: NC_000007.14:101207325:G:A
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000034/9 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000546/1 (Korea1K)
A=0.001027/3 (KOREAN)
A=0.00463/1 (Vietnamese)
HGVS:: NC_000007.14:g.101207326G>A, NC_000007.13:g.100850607G>A, NG_012148.1:g.15405C>T

Select item 148758105519.

rs1487581055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:101209816 (GRCh38)
7:100853097 (GRCh37)
Canonical SPDI:: NC_000007.14:101209815:C:G,NC_000007.14:101209815:C:T
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.101209816C>G, NC_000007.14:g.101209816C>T, NC_000007.13:g.100853097C>G, NC_000007.13:g.100853097C>T, NG_012148.1:g.12915G>C, NG_012148.1:g.12915G>A

Select item 148756086120.

rs1487560861 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:101215395 (GRCh38)
7:100858676 (GRCh37)
Canonical SPDI:: NC_000007.14:101215394:T:G
Gene:: PLOD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.101215395T>G, NC_000007.13:g.100858676T>G, NG_012148.1:g.7336A>C

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