SNP Links for Nucleotide (Select 584458488) - SNP

Links from Nucleotide

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Select item 14915474001.

rs1491547400 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:209771672 (GRCh38)
1:209945018 (GRCh37)
Canonical SPDI:: NC_000001.11:209771672::G
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000104/14 (GnomAD)
G=0.001118/19 (TOMMO)
HGVS:: NC_000001.11:g.209771672_209771673insG, NC_000001.10:g.209945017_209945018insG, NG_033934.1:g.20641_20642insG

Select item 14914865692.

rs1491486569 has merged into rs139927430 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGAAGGTGTGTGTGTG,TGTGAGAAGGTGTGTGTGTG,TGTGTG,TGTGTGTGTG [Show Flanks]
Chromosome:: 1:209771510 (GRCh38)
1:209944855 (GRCh37)
Canonical SPDI:: NC_000001.11:209771502:GTGTGTGTG:GTGTGTG,NC_000001.11:209771502:GTGTGTGTG:GTGTGTGTGTG,NC_000001.11:209771502:GTGTGTGTG:GTGTGTGTGTGAAGGTGTGTGTGTG,NC_000001.11:209771502:GTGTGTGTG:GTGTGTGTGTGAGAAGGTGTGTGTGTG,NC_000001.11:209771502:GTGTGTGTG:GTGTGTGTGTGTG,NC_000001.11:209771502:GTGTGTGTG:GTGTGTGTGTGTGTGTG
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
-=0.000128/34 (TOPMED)
GT=0.209197/3481 (TOMMO)
GT=0.270742/496 (Korea1K)
-=0.468121/279 (NorthernSweden)
GT=0.475952/475 (GoNL)
GT=0.484225/2425 (1000Genomes)
HGVS:: NC_000001.11:g.209771504TG[3], NC_000001.11:g.209771504TG[5], NC_000001.11:g.209771503_209771511GT[5]GAAGGTGTGTGTGTG[1], NC_000001.11:g.209771503_209771511GT[5]GA[2]AGGTGTGTGTGTG[1], NC_000001.11:g.209771504TG[6], NC_000001.11:g.209771504TG[8], NC_000001.10:g.209944849TG[3], NC_000001.10:g.209944849TG[5], NC_000001.10:g.209944848_209944856GT[5]GAAGGTGTGTGTGTG[1], NC_000001.10:g.209944848_209944856GT[5]GA[2]AGGTGTGTGTGTG[1], NC_000001.10:g.209944849TG[6], NC_000001.10:g.209944849TG[8], NG_033934.1:g.20473TG[3], NG_033934.1:g.20473TG[5], NG_033934.1:g.20472_20480GT[5]GAAGGTGTGTGTGTG[1], NG_033934.1:g.20472_20480GT[5]GA[2]AGGTGTGTGTGTG[1], NG_033934.1:g.20473TG[6], NG_033934.1:g.20473TG[8]

Select item 14914697963.

rs1491469796 has merged into rs58583206 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 1:209754117 (GRCh38)
1:209927462 (GRCh37)
Canonical SPDI:: NC_000001.11:209754103:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000001.11:209754103:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:209754103:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000001.11:209754103:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:209754103:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.20833/45 (Vietnamese)
TG=0.235/1050 (Estonian)
TG=0.25/10 (GENOME_DK)
TG=0.285/171 (NorthernSweden)
TG=0.3465/1735 (1000Genomes)
HGVS:: NC_000001.11:g.209754105GT[6], NC_000001.11:g.209754105GT[7], NC_000001.11:g.209754105GT[9], NC_000001.11:g.209754105GT[10], NC_000001.11:g.209754105GT[11], NC_000001.10:g.209927450GT[6], NC_000001.10:g.209927450GT[7], NC_000001.10:g.209927450GT[9], NC_000001.10:g.209927450GT[10], NC_000001.10:g.209927450GT[11], NG_033934.1:g.3074GT[6], NG_033934.1:g.3074GT[7], NG_033934.1:g.3074GT[9], NG_033934.1:g.3074GT[10], NG_033934.1:g.3074GT[11]

Select item 14914178894.

rs1491417889 has merged into rs397844074 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 1:209755657 (GRCh38)
1:209929002 (GRCh37)
Canonical SPDI:: NC_000001.11:209755655:AAA:A,NC_000001.11:209755655:AAA:AAAA
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.209755657_209755658del, NC_000001.11:g.209755658dup, NC_000001.10:g.209929002_209929003del, NC_000001.10:g.209929003dup, NG_033934.1:g.4626_4627del, NG_033934.1:g.4627dup

Select item 14913946365.

rs1491394636 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:209771020 (GRCh38)
1:209944365 (GRCh37)
Canonical SPDI:: NC_000001.11:209771019:AT:
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000337/4 (ALFA)
-=0.000176/22 (GnomAD)
HGVS:: NC_000001.11:g.209771020_209771021del, NC_000001.10:g.209944365_209944366del, NG_033934.1:g.19989_19990del

Select item 14912575106.

rs1491257510 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:209771672 (GRCh38)
1:209945017 (GRCh37)
Canonical SPDI:: NC_000001.11:209771671:TT:
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000429/7 (ALFA)
-=0.000101/14 (GnomAD)
-=0.00157/26 (TOMMO)
HGVS:: NC_000001.11:g.209771672_209771673del, NC_000001.10:g.209945017_209945018del, NG_033934.1:g.20641_20642del

Select item 14912363847.

rs1491236384 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 1:209771820 (GRCh38)
1:209945165 (GRCh37)
Canonical SPDI:: NC_000001.11:209771819:GG:
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.209771820_209771821del, NC_000001.10:g.209945165_209945166del, NG_033934.1:g.20789_20790del

Select item 14912220418.

rs1491222041 has merged into rs144661554 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 1:209771029 (GRCh38)
1:209944374 (GRCh37)
Canonical SPDI:: NC_000001.11:209771020:TGTGTGTGTGTG:TGTGTGTG,NC_000001.11:209771020:TGTGTGTGTGTG:TGTGTGTGTG,NC_000001.11:209771020:TGTGTGTGTGTG:TGTGTGTGTGTGTG
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTG=0./0 (ALFA)
-=0.01531/9 (NorthernSweden)
-=0.11382/570 (1000Genomes)
HGVS:: NC_000001.11:g.209771021TG[4], NC_000001.11:g.209771021TG[5], NC_000001.11:g.209771021TG[7], NC_000001.10:g.209944366TG[4], NC_000001.10:g.209944366TG[5], NC_000001.10:g.209944366TG[7], NG_033934.1:g.19990TG[4], NG_033934.1:g.19990TG[5], NG_033934.1:g.19990TG[7]

Select item 14912192449.

rs1491219244 has merged into rs1200277211 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 1:209771828 (GRCh38)
1:209945173 (GRCh37)
Canonical SPDI:: NC_000001.11:209771820:GTGTGTGTGTG:GTGTGTG,NC_000001.11:209771820:GTGTGTGTGTG:GTGTGTGTG,NC_000001.11:209771820:GTGTGTGTGTG:GTGTGTGTGTGTG
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTG=0./0 (ALFA)
-=0.00011/2 (TOMMO)
HGVS:: NC_000001.11:g.209771822TG[3], NC_000001.11:g.209771822TG[4], NC_000001.11:g.209771822TG[6], NC_000001.10:g.209945167TG[3], NC_000001.10:g.209945167TG[4], NC_000001.10:g.209945167TG[6], NG_033934.1:g.20791TG[3], NG_033934.1:g.20791TG[4], NG_033934.1:g.20791TG[6]

Select item 149121245810.

rs1491212458 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 1:209776652 (GRCh38)
1:209949997 (GRCh37)
Canonical SPDI:: NC_000001.11:209776651:CC:
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0021/9 (ALFA)
HGVS:: NC_000001.11:g.209776652_209776653del, NC_000001.10:g.209949997_209949998del, NG_033934.1:g.25621_25622del

Select item 149119360011.

rs1491193600 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA [Show Flanks]
Chromosome:: 1:209776652 (GRCh38)
1:209949998 (GRCh37)
Canonical SPDI:: NC_000001.11:209776652::A,NC_000001.11:209776652::AA,NC_000001.11:209776652::AAA
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.209776652_209776653insA, NC_000001.11:g.209776652_209776653insAA, NC_000001.11:g.209776652_209776653insAAA, NC_000001.10:g.209949997_209949998insA, NC_000001.10:g.209949997_209949998insAA, NC_000001.10:g.209949997_209949998insAAA, NG_033934.1:g.25621_25622insA, NG_033934.1:g.25621_25622insAA, NG_033934.1:g.25621_25622insAAA

Select item 149109642512.

rs1491096425 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTCT [Show Flanks]
Chromosome:: 1:209761013 (GRCh38)
1:209934359 (GRCh37)
Canonical SPDI:: NC_000001.11:209761013:TGTCT:TGTCTGTCT
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTCTGTCT=0./0 (ALFA)
TGTC=0.000042/11 (TOPMED)
TGTC=0.000043/6 (GnomAD)
TGTC=0.000177/3 (TOMMO)
TGTC=0.000312/2 (1000Genomes)
TGTC=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.209761015_209761018dup, NC_000001.10:g.209934360_209934363dup, NG_033934.1:g.9984_9987dup

Select item 149106431613.

rs1491064316 has merged into rs541860748 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGCAGGTGGAGGTGTGTGTGTG,TGTGTG [Show Flanks]
Chromosome:: 1:209771071 (GRCh38)
1:209944416 (GRCh37)
Canonical SPDI:: NC_000001.11:209771063:GTGTGTGTG:GTGTGTG,NC_000001.11:209771063:GTGTGTGTG:GTGTGTGTGTG,NC_000001.11:209771063:GTGTGTGTG:GTGTGTGTGTGCAGGTGGAGGTGTGTGTGTG,NC_000001.11:209771063:GTGTGTGTG:GTGTGTGTGTGTG
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTG=0./0 (ALFA)
GT=0.2398/924 (ALSPAC)
GT=0.2519/934 (TWINSUK)
GT=0.4274/2140 (1000Genomes)
HGVS:: NC_000001.11:g.209771065TG[3], NC_000001.11:g.209771065TG[5], NC_000001.11:g.209771064_209771072GT[5]GCAGGTGGAGGTGTGTGTGTG[1], NC_000001.11:g.209771065TG[6], NC_000001.10:g.209944410TG[3], NC_000001.10:g.209944410TG[5], NC_000001.10:g.209944409_209944417GT[5]GCAGGTGGAGGTGTGTGTGTG[1], NC_000001.10:g.209944410TG[6], NG_033934.1:g.20034TG[3], NG_033934.1:g.20034TG[5], NG_033934.1:g.20033_20041GT[5]GCAGGTGGAGGTGTGTGTGTG[1], NG_033934.1:g.20034TG[6]

Select item 149101164214.

rs1491011642 has merged into rs148345044 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG,TGTGTG [Show Flanks]
Chromosome:: 1:209771452 (GRCh38)
1:209944797 (GRCh37)
Canonical SPDI:: NC_000001.11:209771444:GTGTGTGTG:GTGTGTG,NC_000001.11:209771444:GTGTGTGTG:GTGTGTGTGTG,NC_000001.11:209771444:GTGTGTGTG:GTGTGTGTGTGTG
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTG=0./0 (ALFA)
-=0.4182/762 (Korea1K)
-=0.4329/258 (NorthernSweden)
GT=0.4593/1770 (ALSPAC)
GT=0.4738/2373 (1000Genomes)
GT=0.4763/1766 (TWINSUK)
HGVS:: NC_000001.11:g.209771446TG[3], NC_000001.11:g.209771446TG[5], NC_000001.11:g.209771446TG[6], NC_000001.10:g.209944791TG[3], NC_000001.10:g.209944791TG[5], NC_000001.10:g.209944791TG[6], NG_033934.1:g.20415TG[3], NG_033934.1:g.20415TG[5], NG_033934.1:g.20415TG[6]

Select item 149096966415.

rs1490969664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:209775189 (GRCh38)
1:209948534 (GRCh37)
Canonical SPDI:: NC_000001.11:209775188:G:C
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.209775189G>C, NC_000001.10:g.209948534G>C, NG_033934.1:g.24158G>C

Select item 149086164116.

rs1490861641 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:209758365 (GRCh38)
1:209931711 (GRCh37)
Canonical SPDI:: NC_000001.11:209758365::A
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.209758365_209758366insA, NC_000001.10:g.209931710_209931711insA, NG_033934.1:g.7334_7335insA

Select item 149085597717.

rs1490855977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:209758083 (GRCh38)
1:209931428 (GRCh37)
Canonical SPDI:: NC_000001.11:209758082:G:A,NC_000001.11:209758082:G:T
Gene:: TRAF3IP3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209758083G>A, NC_000001.11:g.209758083G>T, NC_000001.10:g.209931428G>A, NC_000001.10:g.209931428G>T, NG_033934.1:g.7052G>A, NG_033934.1:g.7052G>T

Select item 149079123318.

rs1490791233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:209783437 (GRCh38)
1:209956782 (GRCh37)
Canonical SPDI:: NC_000001.11:209783436:G:A
Gene:: C1orf74 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (Korea1K)
A=0.000004/1 (GnomAD_exomes)
A=0.000212/4 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.209783437G>A, NC_000001.10:g.209956782G>A, NG_033934.1:g.32406G>A, NM_152485.4:c.198C>T, NM_152485.3:c.198C>T, NM_152485.2:c.198C>T

Select item 149066151119.

rs1490661511 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:209751234 (GRCh38)
1:209924579 (GRCh37)
Canonical SPDI:: NC_000001.11:209751233:CC:C
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.209751235del, NC_000001.10:g.209924580del, NG_033934.1:g.204del

Select item 149065092720.

rs1490650927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:209752289 (GRCh38)
1:209925634 (GRCh37)
Canonical SPDI:: NC_000001.11:209752288:A:G
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.209752289A>G, NC_000001.10:g.209925634A>G, NG_033934.1:g.1258A>G

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