SNP Links for Gene (Select 7025) - SNP

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Select item 14915878701.

rs1491587870 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 5:93582770 (GRCh38)
5:92918477 (GRCh37)
Canonical SPDI:: NC_000005.10:93582770:AG:AGAG
Gene:: NR2F1 (Varview), NR2F1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000055/1 (ALFA)
AG=0.000011/3 (TOPMED)
AG=0.000291/3 (GnomAD)
HGVS:: NC_000005.10:g.93582771_93582772dup, NC_000005.9:g.92918477_92918478dup, NG_034119.1:g.4435_4436dup

Select item 14915595382.

rs1491559538 has merged into rs755899269 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTCTC [Show Flanks]
Chromosome:: 5:93581983 (GRCh38)
5:92917689 (GRCh37)
Canonical SPDI:: NC_000005.10:93581975:CTCTCTCTCTCTCTC:CTCTCTC,NC_000005.10:93581975:CTCTCTCTCTCTCTC:CTCTCTCTC,NC_000005.10:93581975:CTCTCTCTCTCTCTC:CTCTCTCTCTC,NC_000005.10:93581975:CTCTCTCTCTCTCTC:CTCTCTCTCTCTC,NC_000005.10:93581975:CTCTCTCTCTCTCTC:CTCTCTCTCTCTCTCTC
Gene:: NR2F1 (Varview), NR2F1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTC=0./0 (ALFA)
-=0./0 (Korea1K)
-=0.00126/21 (TOMMO)
HGVS:: NC_000005.10:g.93581977TC[3], NC_000005.10:g.93581977TC[4], NC_000005.10:g.93581977TC[5], NC_000005.10:g.93581977TC[6], NC_000005.10:g.93581977TC[8], NC_000005.9:g.92917683TC[3], NC_000005.9:g.92917683TC[4], NC_000005.9:g.92917683TC[5], NC_000005.9:g.92917683TC[6], NC_000005.9:g.92917683TC[8], NG_034119.1:g.3641TC[3], NG_034119.1:g.3641TC[4], NG_034119.1:g.3641TC[5], NG_034119.1:g.3641TC[6], NG_034119.1:g.3641TC[8]

Select item 14915048123.

rs1491504812 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 5:93582772 (GRCh38)
5:92918479 (GRCh37)
Canonical SPDI:: NC_000005.10:93582772:T:TAT
Gene:: NR2F1 (Varview), NR2F1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.00769/1 (GnomAD)
HGVS:: NC_000005.10:g.93582773_93582774insAT, NC_000005.9:g.92918479_92918480insAT, NG_034119.1:g.4437_4438insAT

Select item 14914801034.

rs1491480103 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:93582003 (GRCh38)
5:92917709 (GRCh37)
Canonical SPDI:: NC_000005.10:93582002:TT:
Gene:: NR2F1 (Varview), NR2F1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000005.10:g.93582003_93582004del, NC_000005.9:g.92917709_92917710del, NG_034119.1:g.3667_3668del

Select item 14913021485.

rs1491302148 has merged into rs10645176 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTATGTGTGTGTGTGTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 5:93582782 (GRCh38)
5:92918488 (GRCh37)
Canonical SPDI:: NC_000005.10:93582771:GTGTGTGTGTGTGT:GTGTGTGTGT,NC_000005.10:93582771:GTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000005.10:93582771:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000005.10:93582771:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGT,NC_000005.10:93582771:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000005.10:93582771:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT
Gene:: NR2F1 (Varview), NR2F1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
-=0.005/3 (NorthernSweden)
-=0.125/5 (GENOME_DK)
-=0.2857/1431 (1000Genomes)
HGVS:: NC_000005.10:g.93582772GT[5], NC_000005.10:g.93582772GT[6], NC_000005.10:g.93582772GT[8], NC_000005.10:g.93582772_93582785GT[8]ATGTGTGTGTGTGTGTGT[1], NC_000005.10:g.93582772GT[9], NC_000005.10:g.93582772GT[10], NC_000005.9:g.92918478GT[5], NC_000005.9:g.92918478GT[6], NC_000005.9:g.92918478GT[8], NC_000005.9:g.92918478_92918491GT[8]ATGTGTGTGTGTGTGTGT[1], NC_000005.9:g.92918478GT[9], NC_000005.9:g.92918478GT[10], NG_034119.1:g.4436GT[5], NG_034119.1:g.4436GT[6], NG_034119.1:g.4436GT[8], NG_034119.1:g.4436_4449GT[8]ATGTGTGTGTGTGTGTGT[1], NG_034119.1:g.4436GT[9], NG_034119.1:g.4436GT[10]

Select item 14912674556.

rs1491267455 has merged into rs781336309 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCT>-,TTCTTTCT [Show Flanks]
Chromosome:: 5:93585549 (GRCh38)
5:92921255 (GRCh37)
Canonical SPDI:: NC_000005.10:93585537:TCTTTCTTTCTTTCT:TCTTTCTTTCT,NC_000005.10:93585537:TCTTTCTTTCTTTCT:TCTTTCTTTCTTTCTTTCT
Gene:: NR2F1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTTCTTTCT=0.000347/8 (ALFA)
-=0.000012/1 (ExAC)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.93585541TTCT[2], NC_000005.10:g.93585541TTCT[4], NC_000005.9:g.92921247TTCT[2], NC_000005.9:g.92921247TTCT[4], NG_034119.1:g.7205TTCT[2], NG_034119.1:g.7205TTCT[4]

Select item 14912562487.

rs1491256248 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCTCTCCTCTCTTCTCTCTCTCTCTC>- [Show Flanks]
Chromosome:: 5:93581991 (GRCh38)
5:92917697 (GRCh37)
Canonical SPDI:: NC_000005.10:93581976:TCTCTCTCTCTCTCCCCTCTCCTCTCTTCTCTCTCTCTCTC:TCTCTCTCTCTCTC
Gene:: NR2F1 (Varview), NR2F1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.93581991_93582017del, NC_000005.9:g.92917697_92917723del, NG_034119.1:g.3655_3681del

Select item 14912524558.

rs1491252455 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:93583296 (GRCh38)
5:92919002 (GRCh37)
Canonical SPDI:: NC_000005.10:93583295:TT:
Gene:: NR2F1 (Varview), NR2F1-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.93583296_93583297del, NC_000005.9:g.92919002_92919003del, NG_034119.1:g.4960_4961del, NM_005654.6:c.-1728_-1727del

Select item 14912087129.

rs1491208712 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 5:93581667 (GRCh38)
5:92917374 (GRCh37)
Canonical SPDI:: NC_000005.10:93581667:GT:GTGT
Gene:: NR2F1 (Varview), NR2F1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: GT=0./0 (Korea1K)
GT=0.00004/1 (TOMMO)
GT=0.0001/5 (GnomAD)
HGVS:: NC_000005.10:g.93581668_93581669dup, NC_000005.9:g.92917374_92917375dup, NG_034119.1:g.3332_3333dup

Select item 149119380210.

rs1491193802 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:93585539 (GRCh38)
5:92921245 (GRCh37)
Canonical SPDI:: NC_000005.10:93585536:CTCT:CT
Gene:: NR2F1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.93585537CT[1], NC_000005.9:g.92921243CT[1], NG_034119.1:g.7201CT[1]

Select item 149105489411.

rs1491054894 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:93582287 (GRCh38)
5:92917993 (GRCh37)
Canonical SPDI:: NC_000005.10:93582285:AGA:A
Gene:: NR2F1 (Varview), NR2F1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000306/5 (ALFA)
-=0.00013/18 (GnomAD)
-=0.001097/18 (TOMMO)
HGVS:: NC_000005.10:g.93582287_93582288del, NC_000005.9:g.92917993_92917994del, NG_034119.1:g.3951_3952del

Select item 149090566012.

rs1490905660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:93590454 (GRCh38)
5:92926160 (GRCh37)
Canonical SPDI:: NC_000005.10:93590453:T:A
Gene:: NR2F1 (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_000005.10:g.93590454T>A, NC_000005.9:g.92926160T>A, NG_034119.1:g.12118T>A

Select item 149076834013.

rs1490768340 [Homo sapiens]

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

Select item 149071978814.

rs1490719788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:93593776 (GRCh38)
5:92929482 (GRCh37)
Canonical SPDI:: NC_000005.10:93593775:C:A
Gene:: NR2F1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.93593776C>A, NC_000005.9:g.92929482C>A, NG_034119.1:g.15440C>A, NM_005654.6:c.1206C>A, NM_005654.5:c.1206C>A, NM_005654.4:c.1206C>A, NM_001410754.1:c.756C>A, XM_017009797.2:c.756C>A

Select item 149061470515.

rs1490614705 has merged into rs980364725 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TC,TCTCTC [Show Flanks]
Chromosome:: 5:93583334 (GRCh38)
5:92919040 (GRCh37)
Canonical SPDI:: NC_000005.10:93583324:CTCTCTCTCTCTC:CTCTCTCTC,NC_000005.10:93583324:CTCTCTCTCTCTC:CTCTCTCTCTC,NC_000005.10:93583324:CTCTCTCTCTCTC:CTCTCTCTCTCTCTC
Gene:: NR2F1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTC=0./0 (ALFA)
-=0.00218/4 (Korea1K)
HGVS:: NC_000005.10:g.93583326TC[4], NC_000005.10:g.93583326TC[5], NC_000005.10:g.93583326TC[7], NC_000005.9:g.92919032TC[4], NC_000005.9:g.92919032TC[5], NC_000005.9:g.92919032TC[7], NG_034119.1:g.4990TC[4], NG_034119.1:g.4990TC[5], NG_034119.1:g.4990TC[7], NM_005654.6:c.-1698TC[4], NM_005654.6:c.-1698TC[5], NM_005654.6:c.-1698TC[7], NM_005654.5:c.-1686TC[6], NM_005654.5:c.-1686TC[4], NM_005654.5:c.-1686TC[5], NM_005654.5:c.-1686TC[7], NM_005654.4:c.-1686TC[6], NM_005654.4:c.-1686TC[4], NM_005654.4:c.-1686TC[5], NM_005654.4:c.-1686TC[7]

Select item 149056445416.

rs1490564454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:93582726 (GRCh38)
5:92918432 (GRCh37)
Canonical SPDI:: NC_000005.10:93582725:C:A
Gene:: NR2F1 (Varview), NR2F1-AS1 (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)
HGVS:: NC_000005.10:g.93582726C>A, NC_000005.9:g.92918432C>A, NG_034119.1:g.4390C>A

Select item 149041434017.

rs1490414340 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:93590000 (GRCh38)
5:92925706 (GRCh37)
Canonical SPDI:: NC_000005.10:93589999:T:C,NC_000005.10:93589999:T:G
Gene:: NR2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.93590000T>C, NC_000005.10:g.93590000T>G, NC_000005.9:g.92925706T>C, NC_000005.9:g.92925706T>G, NG_034119.1:g.11664T>C, NG_034119.1:g.11664T>G

Select item 149035832118.

rs1490358321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:93588866 (GRCh38)
5:92924572 (GRCh37)
Canonical SPDI:: NC_000005.10:93588865:G:C
Gene:: NR2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.93588866G>C, NC_000005.9:g.92924572G>C, NG_034119.1:g.10530G>C

Select item 148977275219.

rs1489772752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:93592671 (GRCh38)
5:92928377 (GRCh37)
Canonical SPDI:: NC_000005.10:93592670:C:T
Gene:: NR2F1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000031/4 (GnomAD)
HGVS:: NC_000005.10:g.93592671C>T, NC_000005.9:g.92928377C>T, NG_034119.1:g.14335C>T

Select item 148939617020.

rs1489396170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 5:93581762 (GRCh38)
5:92917468 (GRCh37)
Canonical SPDI:: NC_000005.10:93581761:T:A,NC_000005.10:93581761:T:C,NC_000005.10:93581761:T:G
Gene:: NR2F1 (Varview), NR2F1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.0012/4 (GnomAD)
T=0.3/3 (SGDP_PRJ)
HGVS:: NC_000005.10:g.93581762T>A, NC_000005.10:g.93581762T>C, NC_000005.10:g.93581762T>G, NC_000005.9:g.92917468T>A, NC_000005.9:g.92917468T>C, NC_000005.9:g.92917468T>G, NG_034119.1:g.3426T>A, NG_034119.1:g.3426T>C, NG_034119.1:g.3426T>G

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