SNP Links for Nucleotide (Select 336020342) - SNP

Links from Nucleotide

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Select item 14915459411.

rs1491545941 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:161240866 (GRCh38)
1:161210656 (GRCh37)
Canonical SPDI:: NC_000001.11:161240865:CA:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.161240866_161240867del, NC_000001.10:g.161210656_161210657del, NG_029113.1:g.2344_2345del

Select item 14914587002.

rs1491458700 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT [Show Flanks]
Chromosome:: 1:161233895 (GRCh38)
1:161203685 (GRCh37)
Canonical SPDI:: NC_000001.11:161233891:TGTGTGTGT:TGT,NC_000001.11:161233891:TGTGTGTGT:TGTGT,NC_000001.11:161233891:TGTGTGTGT:TGTGTGT,NC_000001.11:161233891:TGTGTGTGT:TGTGTGTGTGT
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
-=0.00011/3 (TOMMO)
HGVS:: NC_000001.11:g.161233893GT[1], NC_000001.11:g.161233893GT[2], NC_000001.11:g.161233893GT[3], NC_000001.11:g.161233893GT[5], NC_000001.10:g.161203683GT[1], NC_000001.10:g.161203683GT[2], NC_000001.10:g.161203683GT[3], NC_000001.10:g.161203683GT[5], NG_029113.1:g.9312CA[1], NG_029113.1:g.9312CA[2], NG_029113.1:g.9312CA[3], NG_029113.1:g.9312CA[5]

Select item 14913673073.

rs1491367307 has merged into rs1491303192 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:161236915 (GRCh38)
1:161206705 (GRCh37)
Canonical SPDI:: NC_000001.11:161236913:TAT:T
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.018376/300 (ALFA)
-=0.028882/3917 (GnomAD)
-=0.029513/189 (1000Genomes)
-=0.044498/165 (TWINSUK)
-=0.051375/198 (ALSPAC)
HGVS:: NC_000001.11:g.161236915_161236916del, NC_000001.10:g.161206705_161206706del, NG_029113.1:g.6296_6297del

Select item 14913031924.

rs1491303192 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:161236915 (GRCh38)
1:161206705 (GRCh37)
Canonical SPDI:: NC_000001.11:161236913:TAT:T
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.018376/300 (ALFA)
-=0.028882/3917 (GnomAD)
-=0.029513/189 (1000Genomes)
-=0.044498/165 (TWINSUK)
-=0.051375/198 (ALSPAC)
HGVS:: NC_000001.11:g.161236915_161236916del, NC_000001.10:g.161206705_161206706del, NG_029113.1:g.6296_6297del

Select item 14911710865.

rs1491171086 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGT,ATGTGT,ATGTGTGT [Show Flanks]
Chromosome:: 1:161233837 (GRCh38)
1:161203628 (GRCh37)
Canonical SPDI:: NC_000001.11:161233837:T:TATGT,NC_000001.11:161233837:T:TATGTGT,NC_000001.11:161233837:T:TATGTGTGT
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.161233838_161233839insATGT, NC_000001.11:g.161233838_161233839insATGTGT, NC_000001.11:g.161233838_161233839insATGTGTGT, NC_000001.10:g.161203628_161203629insATGT, NC_000001.10:g.161203628_161203629insATGTGT, NC_000001.10:g.161203628_161203629insATGTGTGT, NG_029113.1:g.9373_9374insCATA, NG_029113.1:g.9373AC[2]ATA[1], NG_029113.1:g.9373AC[3]ATA[1]

Select item 14911377386.

rs1491137738 has merged into rs35159083 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:161240876 (GRCh38)
1:161210666 (GRCh37)
Canonical SPDI:: NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:161240866:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161240876_161240887del, NC_000001.11:g.161240877_161240887del, NC_000001.11:g.161240878_161240887del, NC_000001.11:g.161240879_161240887del, NC_000001.11:g.161240880_161240887del, NC_000001.11:g.161240881_161240887del, NC_000001.11:g.161240882_161240887del, NC_000001.11:g.161240883_161240887del, NC_000001.11:g.161240884_161240887del, NC_000001.11:g.161240885_161240887del, NC_000001.11:g.161240886_161240887del, NC_000001.11:g.161240887del, NC_000001.11:g.161240887dup, NC_000001.11:g.161240886_161240887dup, NC_000001.11:g.161240885_161240887dup, NC_000001.11:g.161240884_161240887dup, NC_000001.11:g.161240883_161240887dup, NC_000001.11:g.161240882_161240887dup, NC_000001.11:g.161240881_161240887dup, NC_000001.11:g.161240880_161240887dup, NC_000001.11:g.161240878_161240887dup, NC_000001.10:g.161210666_161210677del, NC_000001.10:g.161210667_161210677del, NC_000001.10:g.161210668_161210677del, NC_000001.10:g.161210669_161210677del, NC_000001.10:g.161210670_161210677del, NC_000001.10:g.161210671_161210677del, NC_000001.10:g.161210672_161210677del, NC_000001.10:g.161210673_161210677del, NC_000001.10:g.161210674_161210677del, NC_000001.10:g.161210675_161210677del, NC_000001.10:g.161210676_161210677del, NC_000001.10:g.161210677del, NC_000001.10:g.161210677dup, NC_000001.10:g.161210676_161210677dup, NC_000001.10:g.161210675_161210677dup, NC_000001.10:g.161210674_161210677dup, NC_000001.10:g.161210673_161210677dup, NC_000001.10:g.161210672_161210677dup, NC_000001.10:g.161210671_161210677dup, NC_000001.10:g.161210670_161210677dup, NC_000001.10:g.161210668_161210677dup, NG_029113.1:g.2333_2344del, NG_029113.1:g.2334_2344del, NG_029113.1:g.2335_2344del, NG_029113.1:g.2336_2344del, NG_029113.1:g.2337_2344del, NG_029113.1:g.2338_2344del, NG_029113.1:g.2339_2344del, NG_029113.1:g.2340_2344del, NG_029113.1:g.2341_2344del, NG_029113.1:g.2342_2344del, NG_029113.1:g.2343_2344del, NG_029113.1:g.2344del, NG_029113.1:g.2344dup, NG_029113.1:g.2343_2344dup, NG_029113.1:g.2342_2344dup, NG_029113.1:g.2341_2344dup, NG_029113.1:g.2340_2344dup, NG_029113.1:g.2339_2344dup, NG_029113.1:g.2338_2344dup, NG_029113.1:g.2337_2344dup, NG_029113.1:g.2335_2344dup

Select item 14911139367.

rs1491113936 has merged into rs1224128222 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:161235270 (GRCh38)
1:161205060 (GRCh37)
Canonical SPDI:: NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:161235256:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.161235270_161235282del, NC_000001.11:g.161235271_161235282del, NC_000001.11:g.161235272_161235282del, NC_000001.11:g.161235273_161235282del, NC_000001.11:g.161235274_161235282del, NC_000001.11:g.161235275_161235282del, NC_000001.11:g.161235276_161235282del, NC_000001.11:g.161235277_161235282del, NC_000001.11:g.161235278_161235282del, NC_000001.11:g.161235279_161235282del, NC_000001.11:g.161235280_161235282del, NC_000001.11:g.161235281_161235282del, NC_000001.11:g.161235282del, NC_000001.11:g.161235282dup, NC_000001.11:g.161235281_161235282dup, NC_000001.11:g.161235280_161235282dup, NC_000001.11:g.161235279_161235282dup, NC_000001.11:g.161235278_161235282dup, NC_000001.11:g.161235277_161235282dup, NC_000001.10:g.161205060_161205072del, NC_000001.10:g.161205061_161205072del, NC_000001.10:g.161205062_161205072del, NC_000001.10:g.161205063_161205072del, NC_000001.10:g.161205064_161205072del, NC_000001.10:g.161205065_161205072del, NC_000001.10:g.161205066_161205072del, NC_000001.10:g.161205067_161205072del, NC_000001.10:g.161205068_161205072del, NC_000001.10:g.161205069_161205072del, NC_000001.10:g.161205070_161205072del, NC_000001.10:g.161205071_161205072del, NC_000001.10:g.161205072del, NC_000001.10:g.161205072dup, NC_000001.10:g.161205071_161205072dup, NC_000001.10:g.161205070_161205072dup, NC_000001.10:g.161205069_161205072dup, NC_000001.10:g.161205068_161205072dup, NC_000001.10:g.161205067_161205072dup, NG_029113.1:g.7942_7954del, NG_029113.1:g.7943_7954del, NG_029113.1:g.7944_7954del, NG_029113.1:g.7945_7954del, NG_029113.1:g.7946_7954del, NG_029113.1:g.7947_7954del, NG_029113.1:g.7948_7954del, NG_029113.1:g.7949_7954del, NG_029113.1:g.7950_7954del, NG_029113.1:g.7951_7954del, NG_029113.1:g.7952_7954del, NG_029113.1:g.7953_7954del, NG_029113.1:g.7954del, NG_029113.1:g.7954dup, NG_029113.1:g.7953_7954dup, NG_029113.1:g.7952_7954dup, NG_029113.1:g.7951_7954dup, NG_029113.1:g.7950_7954dup, NG_029113.1:g.7949_7954dup

Select item 14910613958.

rs1491061395 has merged into rs58528236 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 1:161236922 (GRCh38)
1:161206712 (GRCh37)
Canonical SPDI:: NC_000001.11:161236915:TTTTTTTT:TTTTTT,NC_000001.11:161236915:TTTTTTTT:TTTTTTTTT,NC_000001.11:161236915:TTTTTTTT:TTTTTTTTTT,NC_000001.11:161236915:TTTTTTTT:TTTTTTTTTTT,NC_000001.11:161236915:TTTTTTTT:TTTTTTTTTTTT
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.015/9 (NorthernSweden)
-=0.12828/235 (Korea1K)
TT=0.375/3 (KOREAN)
HGVS:: NC_000001.11:g.161236922_161236923del, NC_000001.11:g.161236923dup, NC_000001.11:g.161236922_161236923dup, NC_000001.11:g.161236921_161236923dup, NC_000001.11:g.161236920_161236923dup, NC_000001.10:g.161206712_161206713del, NC_000001.10:g.161206713dup, NC_000001.10:g.161206712_161206713dup, NC_000001.10:g.161206711_161206713dup, NC_000001.10:g.161206710_161206713dup, NG_029113.1:g.6294_6295del, NG_029113.1:g.6295dup, NG_029113.1:g.6294_6295dup, NG_029113.1:g.6293_6295dup, NG_029113.1:g.6292_6295dup

Select item 14908457189.

rs1490845718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:161238926 (GRCh38)
1:161208716 (GRCh37)
Canonical SPDI:: NC_000001.11:161238925:A:C
Gene:: NR1I3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161238926A>C, NC_000001.10:g.161208716A>C, NG_029113.1:g.4285T>G

Select item 149080193510.

rs1490801935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:161232334 (GRCh38)
1:161202124 (GRCh37)
Canonical SPDI:: NC_000001.11:161232333:G:A,NC_000001.11:161232333:G:C
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.161232334G>A, NC_000001.11:g.161232334G>C, NC_000001.10:g.161202124G>A, NC_000001.10:g.161202124G>C, NG_029113.1:g.10877C>T, NG_029113.1:g.10877C>G

Select item 149072657411.

rs1490726574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:161235398 (GRCh38)
1:161205188 (GRCh37)
Canonical SPDI:: NC_000001.11:161235397:G:C,NC_000001.11:161235397:G:T
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161235398G>C, NC_000001.11:g.161235398G>T, NC_000001.10:g.161205188G>C, NC_000001.10:g.161205188G>T, NG_029113.1:g.7813C>G, NG_029113.1:g.7813C>A

Select item 149053800312.

rs1490538003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161232437 (GRCh38)
1:161202227 (GRCh37)
Canonical SPDI:: NC_000001.11:161232436:A:G
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161232437A>G, NC_000001.10:g.161202227A>G, NG_029113.1:g.10774T>C

Select item 149038561513.

rs1490385615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161238487 (GRCh38)
1:161208277 (GRCh37)
Canonical SPDI:: NC_000001.11:161238486:A:G
Gene:: NR1I3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161238487A>G, NC_000001.10:g.161208277A>G, NG_029113.1:g.4724T>C

Select item 149035964314.

rs1490359643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161239315 (GRCh38)
1:161209105 (GRCh37)
Canonical SPDI:: NC_000001.11:161239314:A:G
Gene:: NR1I3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161239315A>G, NC_000001.10:g.161209105A>G, NG_029113.1:g.3896T>C

Select item 149022880315.

rs1490228803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:161236392 (GRCh38)
1:161206182 (GRCh37)
Canonical SPDI:: NC_000001.11:161236391:G:C
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161236392G>C, NC_000001.10:g.161206182G>C, NG_029113.1:g.6819C>G

Select item 148936799616.

rs1489367996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:161233369 (GRCh38)
1:161203159 (GRCh37)
Canonical SPDI:: NC_000001.11:161233368:G:C
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161233369G>C, NC_000001.10:g.161203159G>C, NG_029113.1:g.9842C>G

Select item 148911397517.

rs1489113975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161236363 (GRCh38)
1:161206153 (GRCh37)
Canonical SPDI:: NC_000001.11:161236362:G:A
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161236363G>A, NC_000001.10:g.161206153G>A, NG_029113.1:g.6848C>T

Select item 148902275418.

rs1489022754 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTT [Show Flanks]
Chromosome:: 1:161236743 (GRCh38)
1:161206534 (GRCh37)
Canonical SPDI:: NC_000001.11:161236743:TTTTT:TTTTTTTTTTT
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTTTT=0.000038/1 (TOMMO)
TTTTTT=0.000136/19 (GnomAD)
HGVS:: NC_000001.11:g.161236748_161236749insTTTTTT, NC_000001.10:g.161206538_161206539insTTTTTT, NG_029113.1:g.6467_6468insAAAAAA

Select item 148898004119.

rs1488980041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161237653 (GRCh38)
1:161207443 (GRCh37)
Canonical SPDI:: NC_000001.11:161237652:G:A
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.161237653G>A, NC_000001.10:g.161207443G>A, NG_029113.1:g.5558C>T

Select item 148895407420.

rs1488954074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161233341 (GRCh38)
1:161203131 (GRCh37)
Canonical SPDI:: NC_000001.11:161233340:G:A
Gene:: NR1I3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.161233341G>A, NC_000001.10:g.161203131G>A, NG_029113.1:g.9870C>T

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