SNP Links for Gene (Select 6258) - SNP

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Select item 14914447491.

rs1491444749 has merged into rs56686789 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:165402100 (GRCh38)
1:165371337 (GRCh37)
Canonical SPDI:: NC_000001.11:165402089:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:165402089:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:165402089:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:165402089:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:165402089:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.190129/705 (TWINSUK)
-=0.201868/778 (ALSPAC)
-=0.245325/64935 (TOPMED)
-=0.253794/1271 (1000Genomes)
HGVS:: NC_000001.11:g.165402100_165402101del, NC_000001.11:g.165402101del, NC_000001.11:g.165402101dup, NC_000001.11:g.165402100_165402101dup, NC_000001.11:g.165402099_165402101dup, NC_000001.10:g.165371337_165371338del, NC_000001.10:g.165371338del, NC_000001.10:g.165371338dup, NC_000001.10:g.165371337_165371338dup, NC_000001.10:g.165371336_165371338dup, NG_029517.2:g.48265_48266del, NG_029517.2:g.48266del, NG_029517.2:g.48266dup, NG_029517.2:g.48265_48266dup, NG_029517.2:g.48264_48266dup

Select item 14913632192.

rs1491363219 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:165434271 (GRCh38)
1:165403509 (GRCh37)
Canonical SPDI:: NC_000001.11:165434271::GT,NC_000001.11:165434271::GTGT,NC_000001.11:165434271::GTGTGT,NC_000001.11:165434271::GTGTGTGT,NC_000001.11:165434271::GTGTGTGTGT,NC_000001.11:165434271::GTGTGTGTGTGT,NC_000001.11:165434271::GTGTGTGTGTGTGT,NC_000001.11:165434271::GTGTGTGTGTGTGTGT,NC_000001.11:165434271::GTGTGTGTGTGTGTGTGT
Gene:: RXRG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGT=0./0 (ALFA)
GT=0.00333/2 (NorthernSweden)
HGVS:: NC_000001.11:g.165434271_165434272insGT, NC_000001.11:g.165434271_165434272insGTGT, NC_000001.11:g.165434271_165434272insGTGTGT, NC_000001.11:g.165434271_165434272insGTGTGTGT, NC_000001.11:g.165434271_165434272insGTGTGTGTGT, NC_000001.11:g.165434271_165434272insGTGTGTGTGTGT, NC_000001.11:g.165434271_165434272insGTGTGTGTGTGTGT, NC_000001.11:g.165434271_165434272insGTGTGTGTGTGTGTGT, NC_000001.11:g.165434271_165434272insGTGTGTGTGTGTGTGTGT, NC_000001.10:g.165403508_165403509insGT, NC_000001.10:g.165403508_165403509insGTGT, NC_000001.10:g.165403508_165403509insGTGTGT, NC_000001.10:g.165403508_165403509insGTGTGTGT, NC_000001.10:g.165403508_165403509insGTGTGTGTGT, NC_000001.10:g.165403508_165403509insGTGTGTGTGTGT, NC_000001.10:g.165403508_165403509insGTGTGTGTGTGTGT, NC_000001.10:g.165403508_165403509insGTGTGTGTGTGTGTGT, NC_000001.10:g.165403508_165403509insGTGTGTGTGTGTGTGTGT, NG_029517.2:g.16084_16085insAC, NG_029517.2:g.16084_16085insACAC, NG_029517.2:g.16084_16085insACACAC, NG_029517.2:g.16084_16085insACACACAC, NG_029517.2:g.16084_16085insACACACACAC, NG_029517.2:g.16084_16085insACACACACACAC, NG_029517.2:g.16084_16085insACACACACACACAC, NG_029517.2:g.16084_16085insACACACACACACACAC, NG_029517.2:g.16084_16085insACACACACACACACACAC

Select item 14913159713.

rs1491315971 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:165418110 (GRCh38)
1:165387347 (GRCh37)
Canonical SPDI:: NC_000001.11:165418109:CA:
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.165418110_165418111del, NC_000001.10:g.165387347_165387348del, NG_029517.2:g.32245_32246del

Select item 14913086744.

rs1491308674 has merged into rs201940538 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:165434280 (GRCh38)
1:165403517 (GRCh37)
Canonical SPDI:: NC_000001.11:165434278:TAT:T
Gene:: RXRG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
-=0.000261/69 (TOPMED)
-=0.207357/3472 (TOMMO)
-=0.27331/32813 (GnomAD)
-=0.325424/192 (NorthernSweden)
TA=0.339257/1699 (1000Genomes)
-=0.423409/1570 (TWINSUK)
HGVS:: NC_000001.11:g.165434280_165434281del, NC_000001.10:g.165403517_165403518del, NG_029517.2:g.16076_16077del

Select item 14912723185.

rs1491272318 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGTGTGTGT,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:165434272 (GRCh38)
1:165403510 (GRCh37)
Canonical SPDI:: NC_000001.11:165434272:TGTGTGT:TGTGTGTGCGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:165434272:TGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: RXRG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
TGTGTGTGCG=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.165434273_165434279TG[4]CGTGTGTGT[1], NC_000001.11:g.165434274GT[4], NC_000001.11:g.165434274GT[5], NC_000001.11:g.165434274GT[6], NC_000001.11:g.165434274GT[7], NC_000001.11:g.165434274GT[8], NC_000001.11:g.165434274GT[9], NC_000001.11:g.165434274GT[10], NC_000001.11:g.165434274GT[11], NC_000001.11:g.165434274GT[12], NC_000001.11:g.165434274GT[13], NC_000001.11:g.165434274GT[14], NC_000001.10:g.165403510_165403516TG[4]CGTGTGTGT[1], NC_000001.10:g.165403511GT[4], NC_000001.10:g.165403511GT[5], NC_000001.10:g.165403511GT[6], NC_000001.10:g.165403511GT[7], NC_000001.10:g.165403511GT[8], NC_000001.10:g.165403511GT[9], NC_000001.10:g.165403511GT[10], NC_000001.10:g.165403511GT[11], NC_000001.10:g.165403511GT[12], NC_000001.10:g.165403511GT[13], NC_000001.10:g.165403511GT[14], NG_029517.2:g.16077_16083AC[4]GCACACACA[1], NG_029517.2:g.16078CA[4], NG_029517.2:g.16078CA[5], NG_029517.2:g.16078CA[6], NG_029517.2:g.16078CA[7], NG_029517.2:g.16078CA[8], NG_029517.2:g.16078CA[9], NG_029517.2:g.16078CA[10], NG_029517.2:g.16078CA[11], NG_029517.2:g.16078CA[12], NG_029517.2:g.16078CA[13], NG_029517.2:g.16078CA[14]

Select item 14909717306.

rs1490971730 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTT [Show Flanks]
Chromosome:: 1:165436505 (GRCh38)
1:165405743 (GRCh37)
Canonical SPDI:: NC_000001.11:165436505:CCTT:CCTTCCTT
Gene:: RXRG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTTCCTT=0./0 (ALFA)
CCTT=0.000021/3 (GnomAD)
CCTT=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.165436506_165436509dup, NC_000001.10:g.165405743_165405746dup, NG_029517.2:g.13847_13850dup

Select item 14909695037.

rs1490969503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:165442059 (GRCh38)
1:165411296 (GRCh37)
Canonical SPDI:: NC_000001.11:165442058:C:G
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.165442059C>G, NC_000001.10:g.165411296C>G, NG_029517.2:g.8297G>C

Select item 14909455188.

rs1490945518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:165400912 (GRCh38)
1:165370149 (GRCh37)
Canonical SPDI:: NC_000001.11:165400911:G:C
Gene:: RXRG (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.165400912G>C, NC_000001.10:g.165370149G>C, NG_029517.2:g.49444C>G

Select item 14909268049.

rs1490926804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:165416194 (GRCh38)
1:165385431 (GRCh37)
Canonical SPDI:: NC_000001.11:165416193:A:G
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.165416194A>G, NC_000001.10:g.165385431A>G, NG_029517.2:g.34162T>C

Select item 149064825410.

rs1490648254 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:165424906 (GRCh38)
1:165394144 (GRCh37)
Canonical SPDI:: NC_000001.11:165424906::AT
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AT=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.165424906_165424907insAT, NC_000001.10:g.165394143_165394144insAT, NG_029517.2:g.25449_25450insAT, NM_001256571.2:c.-229_-228insAT, NM_001256571.1:c.-229_-228insAT

Select item 149062685111.

rs1490626851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:165413616 (GRCh38)
1:165382853 (GRCh37)
Canonical SPDI:: NC_000001.11:165413615:T:A,NC_000001.11:165413615:T:C
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.165413616T>A, NC_000001.11:g.165413616T>C, NC_000001.10:g.165382853T>A, NC_000001.10:g.165382853T>C, NG_029517.2:g.36740A>T, NG_029517.2:g.36740A>G

Select item 149062264012.

rs1490622640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:165425943 (GRCh38)
1:165395180 (GRCh37)
Canonical SPDI:: NC_000001.11:165425942:A:G
Gene:: RXRG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.165425943A>G, NC_000001.10:g.165395180A>G, NG_029517.2:g.24413T>C

Select item 149052341813.

rs1490523418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:165415767 (GRCh38)
1:165385004 (GRCh37)
Canonical SPDI:: NC_000001.11:165415766:T:A
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.165415767T>A, NC_000001.10:g.165385004T>A, NG_029517.2:g.34589A>T

Select item 149034079414.

rs1490340794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:165422977 (GRCh38)
1:165392214 (GRCh37)
Canonical SPDI:: NC_000001.11:165422976:C:G
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.165422977C>G, NC_000001.10:g.165392214C>G, NG_029517.2:g.27379G>C

Select item 149029754515.

rs1490297545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:165439468 (GRCh38)
1:165408705 (GRCh37)
Canonical SPDI:: NC_000001.11:165439467:G:A,NC_000001.11:165439467:G:T
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.165439468G>A, NC_000001.11:g.165439468G>T, NC_000001.10:g.165408705G>A, NC_000001.10:g.165408705G>T, NG_029517.2:g.10888C>T, NG_029517.2:g.10888C>A

Select item 149026505316.

rs1490265053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:165433038 (GRCh38)
1:165402275 (GRCh37)
Canonical SPDI:: NC_000001.11:165433037:G:A
Gene:: RXRG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.165433038G>A, NC_000001.10:g.165402275G>A, NG_029517.2:g.17318C>T

Select item 149024917317.

rs1490249173 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:165406144 (GRCh38)
1:165375381 (GRCh37)
Canonical SPDI:: NC_000001.11:165406143:A:T
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_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_000001.11:g.165406144A>T, NC_000001.10:g.165375381A>T, NG_029517.2:g.44212T>A

Select item 149021350518.

rs1490213505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:165423090 (GRCh38)
1:165392327 (GRCh37)
Canonical SPDI:: NC_000001.11:165423089:G:A
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.165423090G>A, NC_000001.10:g.165392327G>A, NG_029517.2:g.27266C>T

Select item 149014537819.

rs1490145378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:165412441 (GRCh38)
1:165381678 (GRCh37)
Canonical SPDI:: NC_000001.11:165412440:A:G,NC_000001.11:165412440:A:T
Gene:: RXRG (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.165412441A>G, NC_000001.11:g.165412441A>T, NC_000001.10:g.165381678A>G, NC_000001.10:g.165381678A>T, NG_029517.2:g.37915T>C, NG_029517.2:g.37915T>A

Select item 148992904220.

rs1489929042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:165431503 (GRCh38)
1:165400740 (GRCh37)
Canonical SPDI:: NC_000001.11:165431502:C:T
Gene:: RXRG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000001.11:g.165431503C>T, NC_000001.10:g.165400740C>T, NG_029517.2:g.18853G>A

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