SNP Links for Nucleotide (Select 1159731480) - SNP

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Select item 14915680891.

rs1491568089 has merged into rs367961913 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 11:57712260 (GRCh38)
11:57479732 (GRCh37)
Canonical SPDI:: NC_000011.10:57712258:CGC:C
Gene:: TMX2 (Varview), MED19 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.015849/188 (ALFA)
-=0.008016/35 (Estonian)
-=0.015218/245 (TOMMO)
-=0.017089/2234 (GnomAD)
-=0.017182/10 (NorthernSweden)
-=0.032093/119 (TWINSUK)
-=0.041515/160 (ALSPAC)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000011.10:g.57712260_57712261del, NC_000011.9:g.57479732_57479733del, NG_052993.1:g.4738_4739del, NM_001317078.3:c.-81_-80del, NM_153450.2:c.-30_-29del, NM_001317078.1:c.-30_-29del

Select item 14915470812.

rs1491547081 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTTTTT [Show Flanks]
Chromosome:: 11:57731126 (GRCh38)
11:57498599 (GRCh37)
Canonical SPDI:: NC_000011.10:57731126:TTTTTTTT:TTTTTTTTGTTTTTTTT
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.57731127_57731134T[8]GTTTTTTTT[1], NC_000011.9:g.57498599_57498606T[8]GTTTTTTTT[1], NG_052993.1:g.23605_23612T[8]GTTTTTTTT[1]

Select item 14915455743.

rs1491545574 has merged into rs1191976911 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:57719045 (GRCh38)
11:57486517 (GRCh37)
Canonical SPDI:: NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57719033:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.57719045_57719055del, NC_000011.10:g.57719051_57719055del, NC_000011.10:g.57719052_57719055del, NC_000011.10:g.57719053_57719055del, NC_000011.10:g.57719054_57719055del, NC_000011.10:g.57719055del, NC_000011.10:g.57719055dup, NC_000011.10:g.57719054_57719055dup, NC_000011.10:g.57719053_57719055dup, NC_000011.10:g.57719052_57719055dup, NC_000011.10:g.57719051_57719055dup, NC_000011.10:g.57719050_57719055dup, NC_000011.10:g.57719049_57719055dup, NC_000011.10:g.57719048_57719055dup, NC_000011.9:g.57486517_57486527del, NC_000011.9:g.57486523_57486527del, NC_000011.9:g.57486524_57486527del, NC_000011.9:g.57486525_57486527del, NC_000011.9:g.57486526_57486527del, NC_000011.9:g.57486527del, NC_000011.9:g.57486527dup, NC_000011.9:g.57486526_57486527dup, NC_000011.9:g.57486525_57486527dup, NC_000011.9:g.57486524_57486527dup, NC_000011.9:g.57486523_57486527dup, NC_000011.9:g.57486522_57486527dup, NC_000011.9:g.57486521_57486527dup, NC_000011.9:g.57486520_57486527dup, NG_052993.1:g.11523_11533del, NG_052993.1:g.11529_11533del, NG_052993.1:g.11530_11533del, NG_052993.1:g.11531_11533del, NG_052993.1:g.11532_11533del, NG_052993.1:g.11533del, NG_052993.1:g.11533dup, NG_052993.1:g.11532_11533dup, NG_052993.1:g.11531_11533dup, NG_052993.1:g.11530_11533dup, NG_052993.1:g.11529_11533dup, NG_052993.1:g.11528_11533dup, NG_052993.1:g.11527_11533dup, NG_052993.1:g.11526_11533dup

Select item 14914973234.

rs1491497323 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:57708022 (GRCh38)
11:57475495 (GRCh37)
Canonical SPDI:: NC_000011.10:57708022:GGGG:GGGGG
Gene:: MED19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57708026dup, NC_000011.9:g.57475498dup, NG_052993.1:g.504dup

Select item 14913994515.

rs1491399451 has merged into rs142041272 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 11:57730135 (GRCh38)
11:57497607 (GRCh37)
Canonical SPDI:: NC_000011.10:57730123:TATATATATATATAT:TATATATATAT,NC_000011.10:57730123:TATATATATATATAT:TATATATATATAT,NC_000011.10:57730123:TATATATATATATAT:TATATATATATATATAT,NC_000011.10:57730123:TATATATATATATAT:TATATATATATATATATAT
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TA=0.14667/88 (NorthernSweden)
TA=0.16194/811 (1000Genomes)
TA=0.3/12 (GENOME_DK)
HGVS:: NC_000011.10:g.57730125AT[5], NC_000011.10:g.57730125AT[6], NC_000011.10:g.57730125AT[8], NC_000011.10:g.57730125AT[9], NC_000011.9:g.57497597AT[5], NC_000011.9:g.57497597AT[6], NC_000011.9:g.57497597AT[8], NC_000011.9:g.57497597AT[9], NG_052993.1:g.22603AT[5], NG_052993.1:g.22603AT[6], NG_052993.1:g.22603AT[8], NG_052993.1:g.22603AT[9]

Select item 14912405456.

rs1491240545 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA [Show Flanks]
Chromosome:: 11:57719034 (GRCh38)
11:57486507 (GRCh37)
Canonical SPDI:: NC_000011.10:57719034::A,NC_000011.10:57719034::ATA
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATA=0.000004/1 (TOPMED)
A=0.000548/8 (TOMMO)
A=0.002804/111 (GnomAD)
HGVS:: NC_000011.10:g.57719034_57719035insA, NC_000011.10:g.57719034_57719035insATA, NC_000011.9:g.57486506_57486507insA, NC_000011.9:g.57486506_57486507insATA, NG_052993.1:g.11512_11513insA, NG_052993.1:g.11512_11513insATA

Select item 14912333787.

rs1491233378 has merged into rs71061532 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:57721361 (GRCh38)
11:57488833 (GRCh37)
Canonical SPDI:: NC_000011.10:57721345:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:57721345:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:57721345:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:57721345:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:57721345:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:57721345:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57721345:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57721345:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57721345:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57721345:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.57721361_57721365del, NC_000011.10:g.57721362_57721365del, NC_000011.10:g.57721363_57721365del, NC_000011.10:g.57721364_57721365del, NC_000011.10:g.57721365del, NC_000011.10:g.57721365dup, NC_000011.10:g.57721364_57721365dup, NC_000011.10:g.57721363_57721365dup, NC_000011.10:g.57721359_57721365dup, NC_000011.10:g.57721358_57721365dup, NC_000011.9:g.57488833_57488837del, NC_000011.9:g.57488834_57488837del, NC_000011.9:g.57488835_57488837del, NC_000011.9:g.57488836_57488837del, NC_000011.9:g.57488837del, NC_000011.9:g.57488837dup, NC_000011.9:g.57488836_57488837dup, NC_000011.9:g.57488835_57488837dup, NC_000011.9:g.57488831_57488837dup, NC_000011.9:g.57488830_57488837dup, NG_052993.1:g.13839_13843del, NG_052993.1:g.13840_13843del, NG_052993.1:g.13841_13843del, NG_052993.1:g.13842_13843del, NG_052993.1:g.13843del, NG_052993.1:g.13843dup, NG_052993.1:g.13842_13843dup, NG_052993.1:g.13841_13843dup, NG_052993.1:g.13837_13843dup, NG_052993.1:g.13836_13843dup

Select item 14912063608.

rs1491206360 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:57721345 (GRCh38)
11:57488817 (GRCh37)
Canonical SPDI:: NC_000011.10:57721344:GT:
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000024/3 (GnomAD)
HGVS:: NC_000011.10:g.57721345_57721346del, NC_000011.9:g.57488817_57488818del, NG_052993.1:g.13823_13824del

Select item 14911222179.

rs1491122217 has merged into rs757832822 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:57731134 (GRCh38)
11:57498606 (GRCh37)
Canonical SPDI:: NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731125:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.57731134_57731153del, NC_000011.10:g.57731135_57731153del, NC_000011.10:g.57731136_57731153del, NC_000011.10:g.57731137_57731153del, NC_000011.10:g.57731139_57731153del, NC_000011.10:g.57731141_57731153del, NC_000011.10:g.57731142_57731153del, NC_000011.10:g.57731143_57731153del, NC_000011.10:g.57731144_57731153del, NC_000011.10:g.57731145_57731153del, NC_000011.10:g.57731146_57731153del, NC_000011.10:g.57731147_57731153del, NC_000011.10:g.57731148_57731153del, NC_000011.10:g.57731149_57731153del, NC_000011.10:g.57731150_57731153del, NC_000011.10:g.57731151_57731153del, NC_000011.10:g.57731152_57731153del, NC_000011.10:g.57731153del, NC_000011.10:g.57731153dup, NC_000011.10:g.57731152_57731153dup, NC_000011.10:g.57731151_57731153dup, NC_000011.10:g.57731150_57731153dup, NC_000011.10:g.57731149_57731153dup, NC_000011.10:g.57731148_57731153dup, NC_000011.10:g.57731147_57731153dup, NC_000011.10:g.57731146_57731153dup, NC_000011.10:g.57731145_57731153dup, NC_000011.10:g.57731144_57731153dup, NC_000011.10:g.57731143_57731153dup, NC_000011.10:g.57731141_57731153dup, NC_000011.10:g.57731140_57731153dup, NC_000011.10:g.57731139_57731153dup, NC_000011.10:g.57731138_57731153dup, NC_000011.10:g.57731131_57731153dup, NC_000011.10:g.57731130_57731153dup, NC_000011.10:g.57731128_57731153dup, NC_000011.9:g.57498606_57498625del, NC_000011.9:g.57498607_57498625del, NC_000011.9:g.57498608_57498625del, NC_000011.9:g.57498609_57498625del, NC_000011.9:g.57498611_57498625del, NC_000011.9:g.57498613_57498625del, NC_000011.9:g.57498614_57498625del, NC_000011.9:g.57498615_57498625del, NC_000011.9:g.57498616_57498625del, NC_000011.9:g.57498617_57498625del, NC_000011.9:g.57498618_57498625del, NC_000011.9:g.57498619_57498625del, NC_000011.9:g.57498620_57498625del, NC_000011.9:g.57498621_57498625del, NC_000011.9:g.57498622_57498625del, NC_000011.9:g.57498623_57498625del, NC_000011.9:g.57498624_57498625del, NC_000011.9:g.57498625del, NC_000011.9:g.57498625dup, NC_000011.9:g.57498624_57498625dup, NC_000011.9:g.57498623_57498625dup, NC_000011.9:g.57498622_57498625dup, NC_000011.9:g.57498621_57498625dup, NC_000011.9:g.57498620_57498625dup, NC_000011.9:g.57498619_57498625dup, NC_000011.9:g.57498618_57498625dup, NC_000011.9:g.57498617_57498625dup, NC_000011.9:g.57498616_57498625dup, NC_000011.9:g.57498615_57498625dup, NC_000011.9:g.57498613_57498625dup, NC_000011.9:g.57498612_57498625dup, NC_000011.9:g.57498611_57498625dup, NC_000011.9:g.57498610_57498625dup, NC_000011.9:g.57498603_57498625dup, NC_000011.9:g.57498602_57498625dup, NC_000011.9:g.57498600_57498625dup, NG_052993.1:g.23612_23631del, NG_052993.1:g.23613_23631del, NG_052993.1:g.23614_23631del, NG_052993.1:g.23615_23631del, NG_052993.1:g.23617_23631del, NG_052993.1:g.23619_23631del, NG_052993.1:g.23620_23631del, NG_052993.1:g.23621_23631del, NG_052993.1:g.23622_23631del, NG_052993.1:g.23623_23631del, NG_052993.1:g.23624_23631del, NG_052993.1:g.23625_23631del, NG_052993.1:g.23626_23631del, NG_052993.1:g.23627_23631del, NG_052993.1:g.23628_23631del, NG_052993.1:g.23629_23631del, NG_052993.1:g.23630_23631del, NG_052993.1:g.23631del, NG_052993.1:g.23631dup, NG_052993.1:g.23630_23631dup, NG_052993.1:g.23629_23631dup, NG_052993.1:g.23628_23631dup, NG_052993.1:g.23627_23631dup, NG_052993.1:g.23626_23631dup, NG_052993.1:g.23625_23631dup, NG_052993.1:g.23624_23631dup, NG_052993.1:g.23623_23631dup, NG_052993.1:g.23622_23631dup, NG_052993.1:g.23621_23631dup, NG_052993.1:g.23619_23631dup, NG_052993.1:g.23618_23631dup, NG_052993.1:g.23617_23631dup, NG_052993.1:g.23616_23631dup, NG_052993.1:g.23609_23631dup, NG_052993.1:g.23608_23631dup, NG_052993.1:g.23606_23631dup

Select item 149108012210.

rs1491080122 has merged into rs1053636684 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 11:57712262 (GRCh38)
11:57479734 (GRCh37)
Canonical SPDI:: NC_000011.10:57712260:CCC:C,NC_000011.10:57712260:CCC:CC,NC_000011.10:57712260:CCC:CCCC
Gene:: TMX2 (Varview), MED19 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.57712262_57712263del, NC_000011.10:g.57712263del, NC_000011.10:g.57712263dup, NC_000011.9:g.57479734_57479735del, NC_000011.9:g.57479735del, NC_000011.9:g.57479735dup, NG_052993.1:g.4740_4741del, NG_052993.1:g.4741del, NG_052993.1:g.4741dup, NM_001317078.3:c.-83_-82del, NM_001317078.3:c.-82del, NM_001317078.3:c.-82dup, NM_153450.2:c.-32_-31del, NM_153450.2:c.-31del, NM_153450.2:c.-31dup, NM_001317078.1:c.-32_-31del, NM_001317078.1:c.-31del, NM_001317078.1:c.-31dup

Select item 149107897511.

rs1491078975 has merged into rs140987390 [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,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:57731445 (GRCh38)
11:57498917 (GRCh37)
Canonical SPDI:: NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57731433:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.57731445_57731457del, NC_000011.10:g.57731446_57731457del, NC_000011.10:g.57731447_57731457del, NC_000011.10:g.57731448_57731457del, NC_000011.10:g.57731449_57731457del, NC_000011.10:g.57731450_57731457del, NC_000011.10:g.57731451_57731457del, NC_000011.10:g.57731452_57731457del, NC_000011.10:g.57731453_57731457del, NC_000011.10:g.57731454_57731457del, NC_000011.10:g.57731455_57731457del, NC_000011.10:g.57731456_57731457del, NC_000011.10:g.57731457del, NC_000011.10:g.57731457dup, NC_000011.10:g.57731456_57731457dup, NC_000011.10:g.57731455_57731457dup, NC_000011.10:g.57731454_57731457dup, NC_000011.10:g.57731453_57731457dup, NC_000011.10:g.57731452_57731457dup, NC_000011.10:g.57731451_57731457dup, NC_000011.10:g.57731449_57731457dup, NC_000011.9:g.57498917_57498929del, NC_000011.9:g.57498918_57498929del, NC_000011.9:g.57498919_57498929del, NC_000011.9:g.57498920_57498929del, NC_000011.9:g.57498921_57498929del, NC_000011.9:g.57498922_57498929del, NC_000011.9:g.57498923_57498929del, NC_000011.9:g.57498924_57498929del, NC_000011.9:g.57498925_57498929del, NC_000011.9:g.57498926_57498929del, NC_000011.9:g.57498927_57498929del, NC_000011.9:g.57498928_57498929del, NC_000011.9:g.57498929del, NC_000011.9:g.57498929dup, NC_000011.9:g.57498928_57498929dup, NC_000011.9:g.57498927_57498929dup, NC_000011.9:g.57498926_57498929dup, NC_000011.9:g.57498925_57498929dup, NC_000011.9:g.57498924_57498929dup, NC_000011.9:g.57498923_57498929dup, NC_000011.9:g.57498921_57498929dup, NG_052993.1:g.23923_23935del, NG_052993.1:g.23924_23935del, NG_052993.1:g.23925_23935del, NG_052993.1:g.23926_23935del, NG_052993.1:g.23927_23935del, NG_052993.1:g.23928_23935del, NG_052993.1:g.23929_23935del, NG_052993.1:g.23930_23935del, NG_052993.1:g.23931_23935del, NG_052993.1:g.23932_23935del, NG_052993.1:g.23933_23935del, NG_052993.1:g.23934_23935del, NG_052993.1:g.23935del, NG_052993.1:g.23935dup, NG_052993.1:g.23934_23935dup, NG_052993.1:g.23933_23935dup, NG_052993.1:g.23932_23935dup, NG_052993.1:g.23931_23935dup, NG_052993.1:g.23930_23935dup, NG_052993.1:g.23929_23935dup, NG_052993.1:g.23927_23935dup

Select item 149106714512.

rs1491067145 has merged into rs59914635 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:57720145 (GRCh38)
11:57487617 (GRCh37)
Canonical SPDI:: NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:57720134:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.1957/980 (1000Genomes)
HGVS:: NC_000011.10:g.57720145_57720153del, NC_000011.10:g.57720147_57720153del, NC_000011.10:g.57720148_57720153del, NC_000011.10:g.57720149_57720153del, NC_000011.10:g.57720150_57720153del, NC_000011.10:g.57720151_57720153del, NC_000011.10:g.57720152_57720153del, NC_000011.10:g.57720153del, NC_000011.10:g.57720153dup, NC_000011.10:g.57720152_57720153dup, NC_000011.10:g.57720151_57720153dup, NC_000011.10:g.57720150_57720153dup, NC_000011.10:g.57720149_57720153dup, NC_000011.10:g.57720147_57720153dup, NC_000011.10:g.57720144_57720153dup, NC_000011.10:g.57720143_57720153dup, NC_000011.10:g.57720141_57720153dup, NC_000011.10:g.57720135_57720153dup, NC_000011.9:g.57487617_57487625del, NC_000011.9:g.57487619_57487625del, NC_000011.9:g.57487620_57487625del, NC_000011.9:g.57487621_57487625del, NC_000011.9:g.57487622_57487625del, NC_000011.9:g.57487623_57487625del, NC_000011.9:g.57487624_57487625del, NC_000011.9:g.57487625del, NC_000011.9:g.57487625dup, NC_000011.9:g.57487624_57487625dup, NC_000011.9:g.57487623_57487625dup, NC_000011.9:g.57487622_57487625dup, NC_000011.9:g.57487621_57487625dup, NC_000011.9:g.57487619_57487625dup, NC_000011.9:g.57487616_57487625dup, NC_000011.9:g.57487615_57487625dup, NC_000011.9:g.57487613_57487625dup, NC_000011.9:g.57487607_57487625dup, NG_052993.1:g.12623_12631del, NG_052993.1:g.12625_12631del, NG_052993.1:g.12626_12631del, NG_052993.1:g.12627_12631del, NG_052993.1:g.12628_12631del, NG_052993.1:g.12629_12631del, NG_052993.1:g.12630_12631del, NG_052993.1:g.12631del, NG_052993.1:g.12631dup, NG_052993.1:g.12630_12631dup, NG_052993.1:g.12629_12631dup, NG_052993.1:g.12628_12631dup, NG_052993.1:g.12627_12631dup, NG_052993.1:g.12625_12631dup, NG_052993.1:g.12622_12631dup, NG_052993.1:g.12621_12631dup, NG_052993.1:g.12619_12631dup, NG_052993.1:g.12613_12631dup

Select item 149095357613.

rs1490953576 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 11:57707751 (GRCh38)
11:57475223 (GRCh37)
Canonical SPDI:: NC_000011.10:57707750:GG:G
Gene:: MED19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000011.10:g.57707752del, NC_000011.9:g.57475224del, NG_052993.1:g.230del

Select item 149093633314.

rs1490936333 [Homo sapiens]

Variant type:: DEL
Alleles:: ATA>- [Show Flanks]
Chromosome:: 11:57719029 (GRCh38)
11:57486501 (GRCh37)
Canonical SPDI:: NC_000011.10:57719028:ATA:
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00005/5 (GnomAD)
HGVS:: NC_000011.10:g.57719029_57719031del, NC_000011.9:g.57486501_57486503del, NG_052993.1:g.11507_11509del

Select item 149089457115.

rs1490894571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:57717047 (GRCh38)
11:57484519 (GRCh37)
Canonical SPDI:: NC_000011.10:57717046:C:T
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.57717047C>T, NC_000011.9:g.57484519C>T, NG_052993.1:g.9525C>T

Select item 149082845316.

rs1490828453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:57713967 (GRCh38)
11:57481439 (GRCh37)
Canonical SPDI:: NC_000011.10:57713966:A:C,NC_000011.10:57713966:A:G
Gene:: TMX2 (Varview), MED19 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.57713967A>C, NC_000011.10:g.57713967A>G, NC_000011.9:g.57481439A>C, NC_000011.9:g.57481439A>G, NG_052993.1:g.6445A>C, NG_052993.1:g.6445A>G

Select item 149081394917.

rs1490813949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:57714210 (GRCh38)
11:57481682 (GRCh37)
Canonical SPDI:: NC_000011.10:57714209:G:T
Gene:: TMX2 (Varview), MED19 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_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_000011.10:g.57714210G>T, NC_000011.9:g.57481682G>T, NG_052993.1:g.6688G>T

Select item 149074012718.

rs1490740127 has merged into rs71061537 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:57733258 (GRCh38)
11:57500730 (GRCh37)
Canonical SPDI:: NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:57733247:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.57733258_57733272del, NC_000011.10:g.57733261_57733272del, NC_000011.10:g.57733262_57733272del, NC_000011.10:g.57733263_57733272del, NC_000011.10:g.57733264_57733272del, NC_000011.10:g.57733265_57733272del, NC_000011.10:g.57733266_57733272del, NC_000011.10:g.57733267_57733272del, NC_000011.10:g.57733269_57733272del, NC_000011.10:g.57733270_57733272del, NC_000011.10:g.57733271_57733272del, NC_000011.10:g.57733272del, NC_000011.10:g.57733272dup, NC_000011.10:g.57733271_57733272dup, NC_000011.10:g.57733270_57733272dup, NC_000011.10:g.57733269_57733272dup, NC_000011.10:g.57733268_57733272dup, NC_000011.10:g.57733267_57733272dup, NC_000011.10:g.57733266_57733272dup, NC_000011.10:g.57733265_57733272dup, NC_000011.10:g.57733262_57733272dup, NC_000011.10:g.57733261_57733272dup, NC_000011.10:g.57733251_57733272dup, NC_000011.10:g.57733272_57733273insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.57733272_57733273insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.57733272_57733273insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.57733272_57733273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.57733272_57733273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.57733272_57733273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.57733272_57733273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.57733272_57733273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.57733272_57733273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.57500730_57500744del, NC_000011.9:g.57500733_57500744del, NC_000011.9:g.57500734_57500744del, NC_000011.9:g.57500735_57500744del, NC_000011.9:g.57500736_57500744del, NC_000011.9:g.57500737_57500744del, NC_000011.9:g.57500738_57500744del, NC_000011.9:g.57500739_57500744del, NC_000011.9:g.57500741_57500744del, NC_000011.9:g.57500742_57500744del, NC_000011.9:g.57500743_57500744del, NC_000011.9:g.57500744del, NC_000011.9:g.57500744dup, NC_000011.9:g.57500743_57500744dup, NC_000011.9:g.57500742_57500744dup, NC_000011.9:g.57500741_57500744dup, NC_000011.9:g.57500740_57500744dup, NC_000011.9:g.57500739_57500744dup, NC_000011.9:g.57500738_57500744dup, NC_000011.9:g.57500737_57500744dup, NC_000011.9:g.57500734_57500744dup, NC_000011.9:g.57500733_57500744dup, NC_000011.9:g.57500723_57500744dup, NC_000011.9:g.57500744_57500745insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.57500744_57500745insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.57500744_57500745insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.57500744_57500745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.57500744_57500745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.57500744_57500745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.57500744_57500745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.57500744_57500745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.57500744_57500745insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052993.1:g.25736_25750del, NG_052993.1:g.25739_25750del, NG_052993.1:g.25740_25750del, NG_052993.1:g.25741_25750del, NG_052993.1:g.25742_25750del, NG_052993.1:g.25743_25750del, NG_052993.1:g.25744_25750del, NG_052993.1:g.25745_25750del, NG_052993.1:g.25747_25750del, NG_052993.1:g.25748_25750del, NG_052993.1:g.25749_25750del, NG_052993.1:g.25750del, NG_052993.1:g.25750dup, NG_052993.1:g.25749_25750dup, NG_052993.1:g.25748_25750dup, NG_052993.1:g.25747_25750dup, NG_052993.1:g.25746_25750dup, NG_052993.1:g.25745_25750dup, NG_052993.1:g.25744_25750dup, NG_052993.1:g.25743_25750dup, NG_052993.1:g.25740_25750dup, NG_052993.1:g.25739_25750dup, NG_052993.1:g.25729_25750dup, NG_052993.1:g.25750_25751insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052993.1:g.25750_25751insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052993.1:g.25750_25751insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052993.1:g.25750_25751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052993.1:g.25750_25751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052993.1:g.25750_25751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052993.1:g.25750_25751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052993.1:g.25750_25751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_052993.1:g.25750_25751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149065618719.

rs1490656187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57740524 (GRCh38)
11:57507996 (GRCh37)
Canonical SPDI:: NC_000011.10:57740523:G:A
Gene:: TMX2 (Varview), SELENOH (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.57740524G>A, NC_000011.9:g.57507996G>A, NG_052993.1:g.33002G>A, NM_015959.4:c.*279G>A, NM_015959.3:c.*279G>A, NM_001144012.3:c.*279G>A, NM_001144012.2:c.*279G>A, NM_001347895.2:c.*279G>A, NM_001347895.1:c.*279G>A, NM_001347893.2:c.*279G>A, NM_001347893.1:c.*279G>A, NM_001347894.2:c.*279G>A, NM_001347894.1:c.*279G>A, NR_144934.2:n.1262G>A, NR_144934.1:n.1332G>A, NM_001347896.2:c.*279G>A, NM_001347896.1:c.*279G>A, NM_001347890.2:c.*279G>A, NM_001347890.1:c.*279G>A, NR_144935.2:n.1196G>A, NR_144935.1:n.1266G>A, NM_001347898.2:c.*463G>A, NM_001347898.1:c.*463G>A, NM_001347892.2:c.*279G>A, NM_001347892.1:c.*279G>A, NR_144933.2:n.1119G>A, NR_144933.1:n.1189G>A, NM_001347891.2:c.*279G>A, NM_001347891.1:c.*279G>A, NR_037645.2:n.1005G>A, NR_037645.1:n.1075G>A, NR_026593.2:n.1343G>A

Select item 149062239920.

rs1490622399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:57726609 (GRCh38)
11:57494081 (GRCh37)
Canonical SPDI:: NC_000011.10:57726608:G:A
Gene:: TMX2 (Varview), TMX2-CTNND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.57726609G>A, NC_000011.9:g.57494081G>A, NG_052993.1:g.19087G>A

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