SNP Links for Gene (Select 7111) - SNP

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Select item 14915626411.

rs1491562641 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GACACACACA [Show Flanks]
Chromosome:: 9:97511071 (GRCh38)
9:100273354 (GRCh37)
Canonical SPDI:: NC_000009.12:97511071:ACACACACA:ACACACACAGACACACACA
Gene:: TMOD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACACACACAGACACACACA=0./0 (ALFA)
HGVS:: NC_000009.12:g.97511072_97511080AC[4]AGACACACACA[1], NC_000009.11:g.100273354_100273362AC[4]AGACACACACA[1]

Select item 14915623312.

rs1491562331 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 9:97508056 (GRCh38)
9:100270338 (GRCh37)
Canonical SPDI:: NC_000009.12:97508055:TT:
Gene:: TMOD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.97508056_97508057del, NC_000009.11:g.100270338_100270339del

Select item 14914648473.

rs1491464847 has merged into rs55700746 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:97551023 (GRCh38)
9:100313305 (GRCh37)
Canonical SPDI:: NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97551014:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTT=0.0687/344 (1000Genomes)
TTTTTTTTTTTTTTTTTT=0.3/12 (GENOME_DK)
HGVS:: NC_000009.12:g.97551023_97551042del, NC_000009.12:g.97551024_97551042del, NC_000009.12:g.97551025_97551042del, NC_000009.12:g.97551026_97551042del, NC_000009.12:g.97551027_97551042del, NC_000009.12:g.97551028_97551042del, NC_000009.12:g.97551029_97551042del, NC_000009.12:g.97551030_97551042del, NC_000009.12:g.97551031_97551042del, NC_000009.12:g.97551032_97551042del, NC_000009.12:g.97551033_97551042del, NC_000009.12:g.97551034_97551042del, NC_000009.12:g.97551035_97551042del, NC_000009.12:g.97551036_97551042del, NC_000009.12:g.97551037_97551042del, NC_000009.12:g.97551038_97551042del, NC_000009.12:g.97551039_97551042del, NC_000009.12:g.97551040_97551042del, NC_000009.12:g.97551041_97551042del, NC_000009.12:g.97551042del, NC_000009.12:g.97551042dup, NC_000009.12:g.97551041_97551042dup, NC_000009.12:g.97551040_97551042dup, NC_000009.12:g.97551039_97551042dup, NC_000009.12:g.97551038_97551042dup, NC_000009.12:g.97551037_97551042dup, NC_000009.12:g.97551036_97551042dup, NC_000009.12:g.97551035_97551042dup, NC_000009.12:g.97551034_97551042dup, NC_000009.12:g.97551033_97551042dup, NC_000009.12:g.97551031_97551042dup, NC_000009.12:g.97551030_97551042dup, NC_000009.12:g.97551016_97551042dup, NC_000009.12:g.97551042_97551043insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.100313305_100313324del, NC_000009.11:g.100313306_100313324del, NC_000009.11:g.100313307_100313324del, NC_000009.11:g.100313308_100313324del, NC_000009.11:g.100313309_100313324del, NC_000009.11:g.100313310_100313324del, NC_000009.11:g.100313311_100313324del, NC_000009.11:g.100313312_100313324del, NC_000009.11:g.100313313_100313324del, NC_000009.11:g.100313314_100313324del, NC_000009.11:g.100313315_100313324del, NC_000009.11:g.100313316_100313324del, NC_000009.11:g.100313317_100313324del, NC_000009.11:g.100313318_100313324del, NC_000009.11:g.100313319_100313324del, NC_000009.11:g.100313320_100313324del, NC_000009.11:g.100313321_100313324del, NC_000009.11:g.100313322_100313324del, NC_000009.11:g.100313323_100313324del, NC_000009.11:g.100313324del, NC_000009.11:g.100313324dup, NC_000009.11:g.100313323_100313324dup, NC_000009.11:g.100313322_100313324dup, NC_000009.11:g.100313321_100313324dup, NC_000009.11:g.100313320_100313324dup, NC_000009.11:g.100313319_100313324dup, NC_000009.11:g.100313318_100313324dup, NC_000009.11:g.100313317_100313324dup, NC_000009.11:g.100313316_100313324dup, NC_000009.11:g.100313315_100313324dup, NC_000009.11:g.100313313_100313324dup, NC_000009.11:g.100313312_100313324dup, NC_000009.11:g.100313298_100313324dup, NC_000009.11:g.100313324_100313325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914388654.

rs1491438865 has merged into rs1193457397 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 9:97559805 (GRCh38)
9:100322087 (GRCh37)
Canonical SPDI:: NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000009.12:97559794:ATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.97559795AT[5], NC_000009.12:g.97559795AT[6], NC_000009.12:g.97559795AT[7], NC_000009.12:g.97559795AT[8], NC_000009.12:g.97559795AT[9], NC_000009.12:g.97559795AT[10], NC_000009.12:g.97559795AT[11], NC_000009.12:g.97559795AT[12], NC_000009.12:g.97559795AT[13], NC_000009.12:g.97559795AT[14], NC_000009.12:g.97559795AT[16], NC_000009.12:g.97559795AT[17], NC_000009.12:g.97559795AT[18], NC_000009.12:g.97559795AT[19], NC_000009.12:g.97559795AT[20], NC_000009.12:g.97559795AT[21], NC_000009.12:g.97559795AT[22], NC_000009.12:g.97559795AT[23], NC_000009.12:g.97559795AT[24], NC_000009.11:g.100322077AT[5], NC_000009.11:g.100322077AT[6], NC_000009.11:g.100322077AT[7], NC_000009.11:g.100322077AT[8], NC_000009.11:g.100322077AT[9], NC_000009.11:g.100322077AT[10], NC_000009.11:g.100322077AT[11], NC_000009.11:g.100322077AT[12], NC_000009.11:g.100322077AT[13], NC_000009.11:g.100322077AT[14], NC_000009.11:g.100322077AT[16], NC_000009.11:g.100322077AT[17], NC_000009.11:g.100322077AT[18], NC_000009.11:g.100322077AT[19], NC_000009.11:g.100322077AT[20], NC_000009.11:g.100322077AT[21], NC_000009.11:g.100322077AT[22], NC_000009.11:g.100322077AT[23], NC_000009.11:g.100322077AT[24]

Select item 14914088135.

rs1491408813 has merged into rs1301741475 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 9:97511083 (GRCh38)
9:100273365 (GRCh37)
Canonical SPDI:: NC_000009.12:97511070:CACACACACACACA:CACACACACACA,NC_000009.12:97511070:CACACACACACACA:CACACACACACACACA
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000009.12:g.97511071CA[6], NC_000009.12:g.97511071CA[8], NC_000009.11:g.100273353CA[6], NC_000009.11:g.100273353CA[8]

Select item 14913602166.

rs1491360216 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:97501043 (GRCh38)
9:100263325 (GRCh37)
Canonical SPDI:: NC_000009.12:97501042:GA:
Gene:: TMOD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.97501043_97501044del, NC_000009.11:g.100263325_100263326del

Select item 14913255037.

rs1491325503 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:97509519 (GRCh38)
9:100271801 (GRCh37)
Canonical SPDI:: NC_000009.12:97509517:TGT:T
Gene:: TMOD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
-=0.001112/124 (GnomAD)
-=0.003199/53 (TOMMO)
-=0.024123/44 (Korea1K)
HGVS:: NC_000009.12:g.97509519_97509520del, NC_000009.11:g.100271801_100271802del

Select item 14913126258.

rs1491312625 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 9:97515215 (GRCh38)
9:100277497 (GRCh37)
Canonical SPDI:: NC_000009.12:97515213:ACA:A,NC_000009.12:97515213:ACA:ACACA
Gene:: TMOD1 (Varview), LOC105376168 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
AC=0./0 (GnomAD)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.97515215_97515216del, NC_000009.12:g.97515215_97515216dup, NC_000009.11:g.100277497_100277498del, NC_000009.11:g.100277497_100277498dup

Select item 14912983779.

rs1491298377 has merged into rs57086657 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:97530800 (GRCh38)
9:100293082 (GRCh37)
Canonical SPDI:: NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:97530787:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.97530800_97530806del, NC_000009.12:g.97530803_97530806del, NC_000009.12:g.97530804_97530806del, NC_000009.12:g.97530805_97530806del, NC_000009.12:g.97530806del, NC_000009.12:g.97530806dup, NC_000009.12:g.97530805_97530806dup, NC_000009.12:g.97530804_97530806dup, NC_000009.12:g.97530803_97530806dup, NC_000009.12:g.97530802_97530806dup, NC_000009.12:g.97530801_97530806dup, NC_000009.11:g.100293082_100293088del, NC_000009.11:g.100293085_100293088del, NC_000009.11:g.100293086_100293088del, NC_000009.11:g.100293087_100293088del, NC_000009.11:g.100293088del, NC_000009.11:g.100293088dup, NC_000009.11:g.100293087_100293088dup, NC_000009.11:g.100293086_100293088dup, NC_000009.11:g.100293085_100293088dup, NC_000009.11:g.100293084_100293088dup, NC_000009.11:g.100293083_100293088dup

Select item 149129514310.

rs1491295143 [Homo sapiens]

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

Select item 149127926211.

rs1491279262 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 9:97551015 (GRCh38)
9:100313298 (GRCh37)
Canonical SPDI:: NC_000009.12:97551015::A,NC_000009.12:97551015::ATA,NC_000009.12:97551015::ATATA,NC_000009.12:97551015::ATATATA,NC_000009.12:97551015::ATATATATA,NC_000009.12:97551015::ATATATATATA,NC_000009.12:97551015::ATATATATATATA,NC_000009.12:97551015::ATATATATATATATA,NC_000009.12:97551015::ATATATATATATATATA,NC_000009.12:97551015::ATATATATATATATATATA,NC_000009.12:97551015::ATATATATATATATATATATA,NC_000009.12:97551015::ATATATATATATATATATATATA,NC_000009.12:97551015::ATATATATATATATATATATATATATA
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.00314/51 (TOMMO)
HGVS:: NC_000009.12:g.97551015_97551016insA, NC_000009.12:g.97551015_97551016insATA, NC_000009.12:g.97551015_97551016insATATA, NC_000009.12:g.97551015_97551016insATATATA, NC_000009.12:g.97551015_97551016insATATATATA, NC_000009.12:g.97551015_97551016insATATATATATA, NC_000009.12:g.97551015_97551016insATATATATATATA, NC_000009.12:g.97551015_97551016insATATATATATATATA, NC_000009.12:g.97551015_97551016insATATATATATATATATA, NC_000009.12:g.97551015_97551016insATATATATATATATATATA, NC_000009.12:g.97551015_97551016insATATATATATATATATATATA, NC_000009.12:g.97551015_97551016insATATATATATATATATATATATA, NC_000009.12:g.97551015_97551016insATATATATATATATATATATATATATA, NC_000009.11:g.100313297_100313298insA, NC_000009.11:g.100313297_100313298insATA, NC_000009.11:g.100313297_100313298insATATA, NC_000009.11:g.100313297_100313298insATATATA, NC_000009.11:g.100313297_100313298insATATATATA, NC_000009.11:g.100313297_100313298insATATATATATA, NC_000009.11:g.100313297_100313298insATATATATATATA, NC_000009.11:g.100313297_100313298insATATATATATATATA, NC_000009.11:g.100313297_100313298insATATATATATATATATA, NC_000009.11:g.100313297_100313298insATATATATATATATATATA, NC_000009.11:g.100313297_100313298insATATATATATATATATATATA, NC_000009.11:g.100313297_100313298insATATATATATATATATATATATA, NC_000009.11:g.100313297_100313298insATATATATATATATATATATATATATA

Select item 149127493312.

rs1491274933 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAT [Show Flanks]
Chromosome:: 9:97600242 (GRCh38)
9:100362525 (GRCh37)
Canonical SPDI:: NC_000009.12:97600242:GAT:GATGAT
Gene:: TMOD1 (Varview), TSTD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATGAT=0./0 (ALFA)
GAT=0.000007/1 (GnomAD)
GAT=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.97600243_97600245dup, NC_000009.11:g.100362525_100362527dup, NM_139246.5:c.*2224_*2226dup, NM_139246.4:c.*2224_*2226dup, NM_003275.4:c.*545_*547dup, NM_003275.3:c.*545_*547dup, NM_001166116.2:c.*545_*547dup, NM_001166116.1:c.*545_*547dup, XM_047423825.1:c.*545_*547dup

Select item 149120172513.

rs1491201725 has merged into rs35330385 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:97501052 (GRCh38)
9:100263334 (GRCh37)
Canonical SPDI:: NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97501043:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMOD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.97501052_97501065del, NC_000009.12:g.97501053_97501065del, NC_000009.12:g.97501054_97501065del, NC_000009.12:g.97501055_97501065del, NC_000009.12:g.97501057_97501065del, NC_000009.12:g.97501058_97501065del, NC_000009.12:g.97501059_97501065del, NC_000009.12:g.97501060_97501065del, NC_000009.12:g.97501061_97501065del, NC_000009.12:g.97501062_97501065del, NC_000009.12:g.97501063_97501065del, NC_000009.12:g.97501064_97501065del, NC_000009.12:g.97501065del, NC_000009.12:g.97501065dup, NC_000009.12:g.97501064_97501065dup, NC_000009.12:g.97501063_97501065dup, NC_000009.12:g.97501062_97501065dup, NC_000009.12:g.97501061_97501065dup, NC_000009.12:g.97501060_97501065dup, NC_000009.12:g.97501059_97501065dup, NC_000009.12:g.97501065_97501066insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.97501065_97501066insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.97501044_97501065A[37]TAAA[2]A[22], NC_000009.11:g.100263334_100263347del, NC_000009.11:g.100263335_100263347del, NC_000009.11:g.100263336_100263347del, NC_000009.11:g.100263337_100263347del, NC_000009.11:g.100263339_100263347del, NC_000009.11:g.100263340_100263347del, NC_000009.11:g.100263341_100263347del, NC_000009.11:g.100263342_100263347del, NC_000009.11:g.100263343_100263347del, NC_000009.11:g.100263344_100263347del, NC_000009.11:g.100263345_100263347del, NC_000009.11:g.100263346_100263347del, NC_000009.11:g.100263347del, NC_000009.11:g.100263347dup, NC_000009.11:g.100263346_100263347dup, NC_000009.11:g.100263345_100263347dup, NC_000009.11:g.100263344_100263347dup, NC_000009.11:g.100263343_100263347dup, NC_000009.11:g.100263342_100263347dup, NC_000009.11:g.100263341_100263347dup, NC_000009.11:g.100263347_100263348insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.100263347_100263348insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.100263326_100263347A[37]TAAA[2]A[22]

Select item 149120014614.

rs1491200146 has merged into rs58522887 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:97559783 (GRCh38)
9:100322065 (GRCh37)
Canonical SPDI:: NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:97559772:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.97559783_97559795del, NC_000009.12:g.97559784_97559795del, NC_000009.12:g.97559785_97559795del, NC_000009.12:g.97559786_97559795del, NC_000009.12:g.97559787_97559795del, NC_000009.12:g.97559788_97559795del, NC_000009.12:g.97559789_97559795del, NC_000009.12:g.97559790_97559795del, NC_000009.12:g.97559791_97559795del, NC_000009.12:g.97559792_97559795del, NC_000009.12:g.97559793_97559795del, NC_000009.12:g.97559794_97559795del, NC_000009.12:g.97559795del, NC_000009.12:g.97559795dup, NC_000009.12:g.97559794_97559795dup, NC_000009.12:g.97559793_97559795dup, NC_000009.12:g.97559792_97559795dup, NC_000009.12:g.97559791_97559795dup, NC_000009.12:g.97559790_97559795dup, NC_000009.12:g.97559789_97559795dup, NC_000009.12:g.97559788_97559795dup, NC_000009.12:g.97559787_97559795dup, NC_000009.12:g.97559786_97559795dup, NC_000009.12:g.97559785_97559795dup, NC_000009.12:g.97559783_97559795dup, NC_000009.11:g.100322065_100322077del, NC_000009.11:g.100322066_100322077del, NC_000009.11:g.100322067_100322077del, NC_000009.11:g.100322068_100322077del, NC_000009.11:g.100322069_100322077del, NC_000009.11:g.100322070_100322077del, NC_000009.11:g.100322071_100322077del, NC_000009.11:g.100322072_100322077del, NC_000009.11:g.100322073_100322077del, NC_000009.11:g.100322074_100322077del, NC_000009.11:g.100322075_100322077del, NC_000009.11:g.100322076_100322077del, NC_000009.11:g.100322077del, NC_000009.11:g.100322077dup, NC_000009.11:g.100322076_100322077dup, NC_000009.11:g.100322075_100322077dup, NC_000009.11:g.100322074_100322077dup, NC_000009.11:g.100322073_100322077dup, NC_000009.11:g.100322072_100322077dup, NC_000009.11:g.100322071_100322077dup, NC_000009.11:g.100322070_100322077dup, NC_000009.11:g.100322069_100322077dup, NC_000009.11:g.100322068_100322077dup, NC_000009.11:g.100322067_100322077dup, NC_000009.11:g.100322065_100322077dup

Select item 149119706015.

rs1491197060 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:97598327 (GRCh38)
9:100360609 (GRCh37)
Canonical SPDI:: NC_000009.12:97598326:CA:
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.97598327_97598328del, NC_000009.11:g.100360609_100360610del

Select item 149105646016.

rs1491056460 has merged into rs546481120 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 9:97529546 (GRCh38)
9:100291828 (GRCh37)
Canonical SPDI:: NC_000009.12:97529534:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:97529534:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:97529534:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:97529534:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:97529534:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:97529534:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000009.12:g.97529546_97529549del, NC_000009.12:g.97529547_97529549del, NC_000009.12:g.97529548_97529549del, NC_000009.12:g.97529549del, NC_000009.12:g.97529549dup, NC_000009.12:g.97529548_97529549dup, NC_000009.11:g.100291828_100291831del, NC_000009.11:g.100291829_100291831del, NC_000009.11:g.100291830_100291831del, NC_000009.11:g.100291831del, NC_000009.11:g.100291831dup, NC_000009.11:g.100291830_100291831dup

Select item 149100248217.

rs1491002482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:97553244 (GRCh38)
9:100315526 (GRCh37)
Canonical SPDI:: NC_000009.12:97553243:C:T
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.97553244C>T, NC_000009.11:g.100315526C>T

Select item 149096363518.

rs1490963635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:97513934 (GRCh38)
9:100276216 (GRCh37)
Canonical SPDI:: NC_000009.12:97513933:G:A
Gene:: TMOD1 (Varview), LOC105376168 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000009.12:g.97513934G>A, NC_000009.11:g.100276216G>A

Select item 149095712519.

rs1490957125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:97533856 (GRCh38)
9:100296138 (GRCh37)
Canonical SPDI:: NC_000009.12:97533855:C:T
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.97533856C>T, NC_000009.11:g.100296138C>T

Select item 149095267820.

rs1490952678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:97564203 (GRCh38)
9:100326485 (GRCh37)
Canonical SPDI:: NC_000009.12:97564202:G:A
Gene:: TMOD1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000009.12:g.97564203G>A, NC_000009.11:g.100326485G>A

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