SNP Links for Gene (Select 51174) - SNP

Links from Gene

Items: 1 to 20 of 9028

<< First< Prev

Page of 452

Next >Last >>

Select item 14915811631.

rs1491581163 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:59860592 (GRCh38)
17:57937953 (GRCh37)
Canonical SPDI:: NC_000017.11:59860590:TCT:T
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.59860592_59860593del, NC_000017.10:g.57937953_57937954del

Select item 14915804862.

rs1491580486 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:59860591 (GRCh38)
17:57937953 (GRCh37)
Canonical SPDI:: NC_000017.11:59860591:C:CC
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.59860592dup, NC_000017.10:g.57937953dup

Select item 14915732343.

rs1491573234 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTG,TTTTTA,TTTTTTC [Show Flanks]
Chromosome:: 17:59862742 (GRCh38)
17:57940104 (GRCh37)
Canonical SPDI:: NC_000017.11:59862742::TTTG,NC_000017.11:59862742::TTTTTA,NC_000017.11:59862742::TTTTTTC
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.59862742_59862743insTTTG, NC_000017.11:g.59862742_59862743insTTTTTA, NC_000017.11:g.59862742_59862743insTTTTTTC, NC_000017.10:g.57940103_57940104insTTTG, NC_000017.10:g.57940103_57940104insTTTTTA, NC_000017.10:g.57940103_57940104insTTTTTTC

Select item 14915392314.

rs1491539231 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:59862742 (GRCh38)
17:57940103 (GRCh37)
Canonical SPDI:: NC_000017.11:59862741:TG:
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.59862742_59862743del, NC_000017.10:g.57940103_57940104del

Select item 14914722615.

rs1491472261 has merged into rs377342839 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 17:59863629 (GRCh38)
17:57940990 (GRCh37)
Canonical SPDI:: NC_000017.11:59863616:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:59863616:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:59863616:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:59863616:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:59863616:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:59863616:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:59863616:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:59863616:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:59863616:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59863616:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.06969/40 (NorthernSweden)
-=0.41434/2075 (1000Genomes)
HGVS:: NC_000017.11:g.59863629_59863633del, NC_000017.11:g.59863630_59863633del, NC_000017.11:g.59863631_59863633del, NC_000017.11:g.59863632_59863633del, NC_000017.11:g.59863633del, NC_000017.11:g.59863633dup, NC_000017.11:g.59863632_59863633dup, NC_000017.11:g.59863631_59863633dup, NC_000017.11:g.59863630_59863633dup, NC_000017.11:g.59863629_59863633dup, NC_000017.10:g.57940990_57940994del, NC_000017.10:g.57940991_57940994del, NC_000017.10:g.57940992_57940994del, NC_000017.10:g.57940993_57940994del, NC_000017.10:g.57940994del, NC_000017.10:g.57940994dup, NC_000017.10:g.57940993_57940994dup, NC_000017.10:g.57940992_57940994dup, NC_000017.10:g.57940991_57940994dup, NC_000017.10:g.57940990_57940994dup

Select item 14913208856.

rs1491320885 has merged into rs869113547 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 17:59882084 (GRCh38)
17:57959445 (GRCh37)
Canonical SPDI:: NC_000017.11:59882082:TCT:T,NC_000017.11:59882082:TCT:TCTCT
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00126/15 (ALFA)
-=0.00103/13 (TOMMO)
-=0.00265/17 (1000Genomes)
-=0.00371/365 (GnomAD)
-=0.01276/22 (Korea1K)
HGVS:: NC_000017.11:g.59882084_59882085del, NC_000017.11:g.59882084_59882085dup, NC_000017.10:g.57959445_57959446del, NC_000017.10:g.57959445_57959446dup

Select item 14911518997.

rs1491151899 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:59872694 (GRCh38)
17:57950055 (GRCh37)
Canonical SPDI:: NC_000017.11:59872693:AT:
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00118/107 (GnomAD)
HGVS:: NC_000017.11:g.59872694_59872695del, NC_000017.10:g.57950055_57950056del

Select item 14910755398.

rs1491075539 has merged into rs35401242 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:59868118 (GRCh38)
17:57945479 (GRCh37)
Canonical SPDI:: NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868108:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.0036/2 (NorthernSweden)
HGVS:: NC_000017.11:g.59868118_59868134del, NC_000017.11:g.59868121_59868134del, NC_000017.11:g.59868122_59868134del, NC_000017.11:g.59868123_59868134del, NC_000017.11:g.59868124_59868134del, NC_000017.11:g.59868125_59868134del, NC_000017.11:g.59868126_59868134del, NC_000017.11:g.59868127_59868134del, NC_000017.11:g.59868128_59868134del, NC_000017.11:g.59868129_59868134del, NC_000017.11:g.59868130_59868134del, NC_000017.11:g.59868131_59868134del, NC_000017.11:g.59868132_59868134del, NC_000017.11:g.59868133_59868134del, NC_000017.11:g.59868134del, NC_000017.11:g.59868134dup, NC_000017.11:g.59868133_59868134dup, NC_000017.11:g.59868132_59868134dup, NC_000017.11:g.59868131_59868134dup, NC_000017.11:g.59868130_59868134dup, NC_000017.11:g.59868129_59868134dup, NC_000017.11:g.59868127_59868134dup, NC_000017.11:g.59868126_59868134dup, NC_000017.11:g.59868125_59868134dup, NC_000017.11:g.59868124_59868134dup, NC_000017.11:g.59868123_59868134dup, NC_000017.10:g.57945479_57945495del, NC_000017.10:g.57945482_57945495del, NC_000017.10:g.57945483_57945495del, NC_000017.10:g.57945484_57945495del, NC_000017.10:g.57945485_57945495del, NC_000017.10:g.57945486_57945495del, NC_000017.10:g.57945487_57945495del, NC_000017.10:g.57945488_57945495del, NC_000017.10:g.57945489_57945495del, NC_000017.10:g.57945490_57945495del, NC_000017.10:g.57945491_57945495del, NC_000017.10:g.57945492_57945495del, NC_000017.10:g.57945493_57945495del, NC_000017.10:g.57945494_57945495del, NC_000017.10:g.57945495del, NC_000017.10:g.57945495dup, NC_000017.10:g.57945494_57945495dup, NC_000017.10:g.57945493_57945495dup, NC_000017.10:g.57945492_57945495dup, NC_000017.10:g.57945491_57945495dup, NC_000017.10:g.57945490_57945495dup, NC_000017.10:g.57945488_57945495dup, NC_000017.10:g.57945487_57945495dup, NC_000017.10:g.57945486_57945495dup, NC_000017.10:g.57945485_57945495dup, NC_000017.10:g.57945484_57945495dup

Select item 14910684859.

rs1491068485 has merged into rs11401623 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:59868294 (GRCh38)
17:57945655 (GRCh37)
Canonical SPDI:: NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59868283:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.59868294_59868304del, NC_000017.11:g.59868295_59868304del, NC_000017.11:g.59868296_59868304del, NC_000017.11:g.59868297_59868304del, NC_000017.11:g.59868298_59868304del, NC_000017.11:g.59868299_59868304del, NC_000017.11:g.59868300_59868304del, NC_000017.11:g.59868301_59868304del, NC_000017.11:g.59868302_59868304del, NC_000017.11:g.59868303_59868304del, NC_000017.11:g.59868304del, NC_000017.11:g.59868304dup, NC_000017.11:g.59868303_59868304dup, NC_000017.11:g.59868302_59868304dup, NC_000017.11:g.59868301_59868304dup, NC_000017.11:g.59868297_59868304dup, NC_000017.11:g.59868304_59868305insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.57945655_57945665del, NC_000017.10:g.57945656_57945665del, NC_000017.10:g.57945657_57945665del, NC_000017.10:g.57945658_57945665del, NC_000017.10:g.57945659_57945665del, NC_000017.10:g.57945660_57945665del, NC_000017.10:g.57945661_57945665del, NC_000017.10:g.57945662_57945665del, NC_000017.10:g.57945663_57945665del, NC_000017.10:g.57945664_57945665del, NC_000017.10:g.57945665del, NC_000017.10:g.57945665dup, NC_000017.10:g.57945664_57945665dup, NC_000017.10:g.57945663_57945665dup, NC_000017.10:g.57945662_57945665dup, NC_000017.10:g.57945658_57945665dup, NC_000017.10:g.57945665_57945666insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149102339410.

rs1491023394 has merged into rs71370137 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:59878500 (GRCh38)
17:57955861 (GRCh37)
Canonical SPDI:: NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:59878489:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.17971/900 (1000Genomes)
HGVS:: NC_000017.11:g.59878500_59878506del, NC_000017.11:g.59878501_59878506del, NC_000017.11:g.59878503_59878506del, NC_000017.11:g.59878504_59878506del, NC_000017.11:g.59878505_59878506del, NC_000017.11:g.59878506del, NC_000017.11:g.59878506dup, NC_000017.11:g.59878505_59878506dup, NC_000017.11:g.59878504_59878506dup, NC_000017.11:g.59878503_59878506dup, NC_000017.11:g.59878502_59878506dup, NC_000017.10:g.57955861_57955867del, NC_000017.10:g.57955862_57955867del, NC_000017.10:g.57955864_57955867del, NC_000017.10:g.57955865_57955867del, NC_000017.10:g.57955866_57955867del, NC_000017.10:g.57955867del, NC_000017.10:g.57955867dup, NC_000017.10:g.57955866_57955867dup, NC_000017.10:g.57955865_57955867dup, NC_000017.10:g.57955864_57955867dup, NC_000017.10:g.57955863_57955867dup

Select item 149100635411.

rs1491006354 has merged into rs34020172 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 17:59861207 (GRCh38)
17:57938568 (GRCh37)
Canonical SPDI:: NC_000017.11:59861195:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:59861195:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:59861195:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:59861195:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:59861195:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:59861195:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:59861195:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.2319/860 (TWINSUK)
T=0.2481/956 (ALSPAC)
T=0.2617/156 (NorthernSweden)
T=0.275/11 (GENOME_DK)
T=0.3073/1539 (1000Genomes)
HGVS:: NC_000017.11:g.59861207_59861210del, NC_000017.11:g.59861208_59861210del, NC_000017.11:g.59861209_59861210del, NC_000017.11:g.59861210del, NC_000017.11:g.59861210dup, NC_000017.11:g.59861209_59861210dup, NC_000017.11:g.59861208_59861210dup, NC_000017.10:g.57938568_57938571del, NC_000017.10:g.57938569_57938571del, NC_000017.10:g.57938570_57938571del, NC_000017.10:g.57938571del, NC_000017.10:g.57938571dup, NC_000017.10:g.57938570_57938571dup, NC_000017.10:g.57938569_57938571dup

Select item 149077847212.

rs1490778472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:59892248 (GRCh38)
17:57969609 (GRCh37)
Canonical SPDI:: NC_000017.11:59892247:A:T
Gene:: RPS6KB1 (Varview), TUBD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_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_000017.11:g.59892248A>T, NC_000017.10:g.57969609A>T, NG_029513.1:g.4167A>T

Select item 149069157213.

rs1490691572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59883170 (GRCh38)
17:57960531 (GRCh37)
Canonical SPDI:: NC_000017.11:59883169:A:G
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59883170A>G, NC_000017.10:g.57960531A>G

Select item 149068904314.

rs1490689043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59888842 (GRCh38)
17:57966203 (GRCh37)
Canonical SPDI:: NC_000017.11:59888841:G:A
Gene:: TUBD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000248/4 (TOMMO)
HGVS:: NC_000017.11:g.59888842G>A, NC_000017.10:g.57966203G>A, NG_029513.1:g.761G>A

Select item 149067675915.

rs1490676759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:59875425 (GRCh38)
17:57952786 (GRCh37)
Canonical SPDI:: NC_000017.11:59875424:G:T
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_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_000017.11:g.59875425G>T, NC_000017.10:g.57952786G>T

Select item 149046716916.

rs1490467169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59874180 (GRCh38)
17:57951541 (GRCh37)
Canonical SPDI:: NC_000017.11:59874179:C:T
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000108/2 (ALFA)
T=0.000026/3 (GnomAD)
HGVS:: NC_000017.11:g.59874180C>T, NC_000017.10:g.57951541C>T

Select item 149031255617.

rs1490312556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:59875533 (GRCh38)
17:57952894 (GRCh37)
Canonical SPDI:: NC_000017.11:59875532:G:C
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.59875533G>C, NC_000017.10:g.57952894G>C

Select item 149029515418.

rs1490295154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:59889065 (GRCh38)
17:57966426 (GRCh37)
Canonical SPDI:: NC_000017.11:59889064:G:C
Gene:: TUBD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000016/2 (GnomAD)
HGVS:: NC_000017.11:g.59889065G>C, NC_000017.10:g.57966426G>C, NG_029513.1:g.984G>C

Select item 149026442919.

rs1490264429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59860876 (GRCh38)
17:57938237 (GRCh37)
Canonical SPDI:: NC_000017.11:59860875:C:T
Gene:: TUBD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59860876C>T, NC_000017.10:g.57938237C>T

Select item 149023002020.

rs1490230020 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>T
Chromosome:: no mapping
Canonical SPDI:

<< First< Prev

Page of 452

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 9028

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity