SNP Links for Gene (Select 347252) - SNP

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Select item 14915186361.

rs1491518636 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 9:38414026 (GRCh38)
9:38414024 (GRCh37)
Canonical SPDI:: NC_000009.12:38414026:T:TTT
Gene:: IGFBPL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.00008/1 (ALFA)
TT=0.00028/5 (TOMMO)
TT=0.00088/48 (GnomAD)
HGVS:: NC_000009.12:g.38414027_38414028insTT, NC_000009.11:g.38414024_38414025insTT

Select item 14914921282.

rs1491492128 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 9:38414064 (GRCh38)
9:38414061 (GRCh37)
Canonical SPDI:: NC_000009.12:38414063:CG:
Gene:: IGFBPL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (ExAC)
-=0.000008/2 (GnomAD_exomes)
-=0.000051/7 (GnomAD)
HGVS:: NC_000009.12:g.38414064_38414065del, NC_000009.11:g.38414061_38414062del

Select item 14914918963.

rs1491491896 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTC [Show Flanks]
Chromosome:: 9:38419896 (GRCh38)
9:38419894 (GRCh37)
Canonical SPDI:: NC_000009.12:38419896:TC:TCCTC
Gene:: IGFBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCCTC=0./0 (ALFA)
TCC=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.38419898_38419899insCTC, NC_000009.11:g.38419895_38419896insCTC

Select item 14913457644.

rs1491345764 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 9:38419896 (GRCh38)
9:38419893 (GRCh37)
Canonical SPDI:: NC_000009.12:38419895:TT:
Gene:: IGFBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.38419896_38419897del, NC_000009.11:g.38419893_38419894del

Select item 14912789355.

rs1491278935 has merged into rs1199432912 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC,TCTCTC [Show Flanks]
Chromosome:: 9:38414033 (GRCh38)
9:38414030 (GRCh37)
Canonical SPDI:: NC_000009.12:38414030:TCTC:TC,NC_000009.12:38414030:TCTC:TCTCTC,NC_000009.12:38414030:TCTC:TCTCTCTC
Gene:: IGFBPL1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTC=0./0 (ALFA)
-=0.000042/11 (TOPMED)
HGVS:: NC_000009.12:g.38414031TC[1], NC_000009.12:g.38414031TC[3], NC_000009.12:g.38414031TC[4], NC_000009.11:g.38414028TC[1], NC_000009.11:g.38414028TC[3], NC_000009.11:g.38414028TC[4]

Select item 14912320496.

rs1491232049 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,CCACACACACACAC [Show Flanks]
Chromosome:: 9:38414031 (GRCh38)
9:38414029 (GRCh37)
Canonical SPDI:: NC_000009.12:38414031:C:CAC,NC_000009.12:38414031:C:CACAC,NC_000009.12:38414031:C:CACACAC,NC_000009.12:38414031:C:CACACACAC,NC_000009.12:38414031:C:CACACACACAC,NC_000009.12:38414031:C:CACACACACACACAC,NC_000009.12:38414031:C:CCCACACACACACAC
Gene:: IGFBPL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACAC=0./0 (ALFA)
HGVS:: NC_000009.12:g.38414032_38414033insAC, NC_000009.12:g.38414032_38414033insACAC, NC_000009.12:g.38414033AC[3], NC_000009.12:g.38414033AC[4], NC_000009.12:g.38414033AC[5], NC_000009.12:g.38414033AC[7], NC_000009.12:g.38414032_38414033insCCACACACACACAC, NC_000009.11:g.38414029_38414030insAC, NC_000009.11:g.38414029_38414030insACAC, NC_000009.11:g.38414030AC[3], NC_000009.11:g.38414030AC[4], NC_000009.11:g.38414030AC[5], NC_000009.11:g.38414030AC[7], NC_000009.11:g.38414029_38414030insCCACACACACACAC

Select item 14912080237.

rs1491208023 has merged into rs1345601056 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 9:38410498 (GRCh38)
9:38410495 (GRCh37)
Canonical SPDI:: NC_000009.12:38410482:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:38410482:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:38410482:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:38410482:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:38410482:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: IGFBPL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0504/28 (NorthernSweden)
HGVS:: NC_000009.12:g.38410498_38410500del, NC_000009.12:g.38410499_38410500del, NC_000009.12:g.38410500del, NC_000009.12:g.38410500dup, NC_000009.12:g.38410499_38410500dup, NC_000009.11:g.38410495_38410497del, NC_000009.11:g.38410496_38410497del, NC_000009.11:g.38410497del, NC_000009.11:g.38410497dup, NC_000009.11:g.38410496_38410497dup

Select item 14911563778.

rs1491156377 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:38410482 (GRCh38)
9:38410479 (GRCh37)
Canonical SPDI:: NC_000009.12:38410481:CA:
Gene:: IGFBPL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.38410482_38410483del, NC_000009.11:g.38410479_38410480del

Select item 14910810969.

rs1491081096 [Homo sapiens]

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

Select item 149104474910.

rs1491044749 [Homo sapiens]

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

Select item 149092957211.

rs1490929572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:38416101 (GRCh38)
9:38416098 (GRCh37)
Canonical SPDI:: NC_000009.12:38416100:G:A
Gene:: IGFBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00006/16 (TOPMED)
A=0.000064/9 (GnomAD)
HGVS:: NC_000009.12:g.38416101G>A, NC_000009.11:g.38416098G>A

Select item 149088633612.

rs1490886336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:38419638 (GRCh38)
9:38419635 (GRCh37)
Canonical SPDI:: NC_000009.12:38419637:C:T
Gene:: IGFBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000009.12:g.38419638C>T, NC_000009.11:g.38419635C>T

Select item 149083743813.

rs1490837438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:38426134 (GRCh38)
9:38426131 (GRCh37)
Canonical SPDI:: NC_000009.12:38426133:A:G
Gene:: IGFBPL1 (Varview), LOC105376041 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.38426134A>G, NC_000009.11:g.38426131A>G, NG_053710.1:g.736A>G

Select item 149039520214.

rs1490395202 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTTCTTCT>- [Show Flanks]
Chromosome:: 9:38419891 (GRCh38)
9:38419888 (GRCh37)
Canonical SPDI:: NC_000009.12:38419888:CTCCTTCTTCT:CT
Gene:: IGFBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/1 (GnomAD)
HGVS:: NC_000009.12:g.38419891_38419899del, NC_000009.11:g.38419888_38419896del

Select item 148987645215.

rs1489876452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:38411694 (GRCh38)
9:38411691 (GRCh37)
Canonical SPDI:: NC_000009.12:38411693:C:A
Gene:: IGFBPL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.38411694C>A, NC_000009.11:g.38411691C>A

Select item 148962216616.

rs1489622166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:38421075 (GRCh38)
9:38421072 (GRCh37)
Canonical SPDI:: NC_000009.12:38421074:T:C
Gene:: IGFBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.38421075T>C, NC_000009.11:g.38421072T>C

Select item 148928516817.

rs1489285168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:38409976 (GRCh38)
9:38409973 (GRCh37)
Canonical SPDI:: NC_000009.12:38409975:C:T
Gene:: IGFBPL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0007/3 (ALFA)
T=0.0004/2 (Estonian)
HGVS:: NC_000009.12:g.38409976C>T, NC_000009.11:g.38409973C>T

Select item 148913902018.

rs1489139020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:38425158 (GRCh38)
9:38425155 (GRCh37)
Canonical SPDI:: NC_000009.12:38425157:T:A
Gene:: IGFBPL1 (Varview), LOC105376041 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.38425158T>A, NC_000009.11:g.38425155T>A

Select item 148908711919.

rs1489087119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:38417897 (GRCh38)
9:38417894 (GRCh37)
Canonical SPDI:: NC_000009.12:38417896:C:T
Gene:: IGFBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.38417897C>T, NC_000009.11:g.38417894C>T

Select item 148888550420.

rs1488885504 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 9:38414346 (GRCh38)
9:38414343 (GRCh37)
Canonical SPDI:: NC_000009.12:38414343:AAAA:AA
Gene:: IGFBPL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.38414346_38414347del, NC_000009.11:g.38414343_38414344del

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