SNP Links for Gene (Select 728040) - SNP

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Select item 14913150841.

rs1491315084 has merged into rs11293126 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 4:73511626 (GRCh38)
4:74377343 (GRCh37)
Canonical SPDI:: NC_000004.12:73511614:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:73511614:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:73511614:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:73511614:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0./0 (GENOME_DK)
A=0.0176/68 (ALSPAC)
A=0.0178/66 (TWINSUK)
A=0.0217/13 (NorthernSweden)
HGVS:: NC_000004.12:g.73511626_73511627del, NC_000004.12:g.73511627del, NC_000004.12:g.73511627dup, NC_000004.12:g.73511626_73511627dup, NC_000004.11:g.74377343_74377344del, NC_000004.11:g.74377344del, NC_000004.11:g.74377344dup, NC_000004.11:g.74377343_74377344dup

Select item 14909905812.

rs1490990581 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 4:73517043 (GRCh38)
4:74382760 (GRCh37)
Canonical SPDI:: NC_000004.12:73517038:TCTCTC:TCTC
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTC=0./0 (ALFA)
HGVS:: NC_000004.12:g.73517039TC[2], NC_000004.11:g.74382756TC[2]

Select item 14907095343.

rs1490709534 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTGTTG>- [Show Flanks]
Chromosome:: 4:73518101 (GRCh38)
4:74383818 (GRCh37)
Canonical SPDI:: NC_000004.12:73518099:GTCTGTTG:G
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.73518101_73518107del, NC_000004.11:g.74383818_74383824del

Select item 14906046984.

rs1490604698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:73525468 (GRCh38)
4:74391185 (GRCh37)
Canonical SPDI:: NC_000004.12:73525467:G:A
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.73525468G>A, NC_000004.11:g.74391185G>A

Select item 14904959155.

rs1490495915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:73527167 (GRCh38)
4:74392884 (GRCh37)
Canonical SPDI:: NC_000004.12:73527166:C:G
Gene:: LINC02499 (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.73527167C>G, NC_000004.11:g.74392884C>G

Select item 14904812226.

rs1490481222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:73518542 (GRCh38)
4:74384259 (GRCh37)
Canonical SPDI:: NC_000004.12:73518541:G:A
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.73518542G>A, NC_000004.11:g.74384259G>A

Select item 14904190987.

rs1490419098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73521359 (GRCh38)
4:74387076 (GRCh37)
Canonical SPDI:: NC_000004.12:73521358:C:T
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.73521359C>T, NC_000004.11:g.74387076C>T

Select item 14903863478.

rs1490386347 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 4:73523364 (GRCh38)
4:74389081 (GRCh37)
Canonical SPDI:: NC_000004.12:73523363:G:
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.73523364del, NC_000004.11:g.74389081del

Select item 14902592029.

rs1490259202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:73522681 (GRCh38)
4:74388398 (GRCh37)
Canonical SPDI:: NC_000004.12:73522680:A:G
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_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_000004.12:g.73522681A>G, NC_000004.11:g.74388398A>G

Select item 149025489810.

rs1490254898 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 4:73522338 (GRCh38)
4:74388056 (GRCh37)
Canonical SPDI:: NC_000004.12:73522338::CC
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0.000084/1 (ALFA)
CC=0.000015/2 (GnomAD)
HGVS:: NC_000004.12:g.73522338_73522339insCC, NC_000004.11:g.74388055_74388056insCC

Select item 149022504411.

rs1490225044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73524288 (GRCh38)
4:74390005 (GRCh37)
Canonical SPDI:: NC_000004.12:73524287:C:T
Gene:: LINC02499 (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.73524288C>T, NC_000004.11:g.74390005C>T

Select item 149019627812.

rs1490196278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:73508740 (GRCh38)
4:74374457 (GRCh37)
Canonical SPDI:: NC_000004.12:73508739:A:G
Gene:: LINC02499 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.73508740A>G, NC_000004.11:g.74374457A>G

Select item 149017323513.

rs1490173235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73516519 (GRCh38)
4:74382236 (GRCh37)
Canonical SPDI:: NC_000004.12:73516518:T:C
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.73516519T>C, NC_000004.11:g.74382236T>C

Select item 148998273314.

rs1489982733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73507928 (GRCh38)
4:74373645 (GRCh37)
Canonical SPDI:: NC_000004.12:73507927:C:T
Gene:: LINC02499 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.73507928C>T, NC_000004.11:g.74373645C>T

Select item 148996831515.

rs1489968315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:73510464 (GRCh38)
4:74376181 (GRCh37)
Canonical SPDI:: NC_000004.12:73510463:C:A
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.73510464C>A, NC_000004.11:g.74376181C>A

Select item 148974707416.

rs1489747074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73523138 (GRCh38)
4:74388855 (GRCh37)
Canonical SPDI:: NC_000004.12:73523137:T:C
Gene:: LINC02499 (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.73523138T>C, NC_000004.11:g.74388855T>C

Select item 148963293217.

rs1489632932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73515982 (GRCh38)
4:74381699 (GRCh37)
Canonical SPDI:: NC_000004.12:73515981:C:T
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.73515982C>T, NC_000004.11:g.74381699C>T

Select item 148962816018.

rs1489628160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:73510500 (GRCh38)
4:74376217 (GRCh37)
Canonical SPDI:: NC_000004.12:73510499:T:C
Gene:: LINC02499 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.73510500T>C, NC_000004.11:g.74376217T>C

Select item 148942776619.

rs1489427766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:73507557 (GRCh38)
4:74373274 (GRCh37)
Canonical SPDI:: NC_000004.12:73507556:G:A
Gene:: LINC02499 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.73507557G>A, NC_000004.11:g.74373274G>A

Select item 148941787620.

rs1489417876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:73508657 (GRCh38)
4:74374374 (GRCh37)
Canonical SPDI:: NC_000004.12:73508656:C:T
Gene:: LINC02499 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000004.12:g.73508657C>T, NC_000004.11:g.74374374C>T

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