SNP Links for Nucleotide (Select 212549717) - SNP

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Select item 14914589171.

rs1491458917 has merged into rs56803986 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 12:49191711 (GRCh38)
12:49585494 (GRCh37)
Canonical SPDI:: NC_000012.12:49191709:TTT:T,NC_000012.12:49191709:TTT:TTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.19912/2362 (ALFA)
TT=0.05451/273 (1000Genomes)
-=0.175/7 (GENOME_DK)
-=0.27759/166 (NorthernSweden)
-=0.33522/29907 (GnomAD)
TT=0.46756/7821 (TOMMO)
HGVS:: NC_000012.12:g.49191711_49191712del, NC_000012.12:g.49191711_49191712dup, NC_000012.11:g.49585494_49585495del, NC_000012.11:g.49585494_49585495dup, NG_008966.1:g.2368_2369del, NG_008966.1:g.2368_2369dup

Select item 14914117602.

rs1491411760 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:49191706 (GRCh38)
12:49585490 (GRCh37)
Canonical SPDI:: NC_000012.12:49191706::C
Validated:: by frequency,by cluster
MAF:: C=0.00279/154 (GnomAD)
HGVS:: NC_000012.12:g.49191706_49191707insC, NC_000012.11:g.49585489_49585490insC, NG_008966.1:g.2372_2373insG

Select item 14914073183.

rs1491407318 has merged into rs776321084 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT,TTTTT [Show Flanks]
Chromosome:: 12:49191739 (GRCh38)
12:49585522 (GRCh37)
Canonical SPDI:: NC_000012.12:49191737:TTT:T,NC_000012.12:49191737:TTT:TTTTT,NC_000012.12:49191737:TTT:TTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
-=0.000179/5 (TOMMO)
-=0.001415/178 (GnomAD)
-=0.246224/913 (TWINSUK)
-=0.261287/1007 (ALSPAC)
HGVS:: NC_000012.12:g.49191739_49191740del, NC_000012.12:g.49191739_49191740dup, NC_000012.12:g.49191738_49191740dup, NC_000012.11:g.49585522_49585523del, NC_000012.11:g.49585522_49585523dup, NC_000012.11:g.49585521_49585523dup, NG_008966.1:g.2340_2341del, NG_008966.1:g.2340_2341dup, NG_008966.1:g.2339_2341dup

Select item 14913187074.

rs1491318707 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:49191710 (GRCh38)
12:49585494 (GRCh37)
Canonical SPDI:: NC_000012.12:49191710::C
Validated:: by frequency,by cluster
MAF:: C=0.00167/1 (NorthernSweden)
C=0.00309/41 (TOMMO)
C=0.00641/281 (GnomAD)
HGVS:: NC_000012.12:g.49191710_49191711insC, NC_000012.11:g.49585493_49585494insC, NG_008966.1:g.2368_2369insG

Select item 14912893975.

rs1491289397 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:49191707 (GRCh38)
12:49585490 (GRCh37)
Canonical SPDI:: NC_000012.12:49191705:TTT:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00185/22 (ALFA)
-=0.00032/4 (TOMMO)
-=0.01027/578 (GnomAD)
HGVS:: NC_000012.12:g.49191707_49191708del, NC_000012.11:g.49585490_49585491del, NG_008966.1:g.2372_2373del

Select item 14912242226.

rs1491224222 [Homo sapiens]

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

Select item 14911631147.

rs1491163114 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTC [Show Flanks]
Chromosome:: 12:49191712 (GRCh38)
12:49585496 (GRCh37)
Canonical SPDI:: NC_000012.12:49191712:CTC:CTCCCTC
Validated:: by frequency,by alfa
MAF:: CTCCCTC=0./0 (ALFA)
CTCC=0.00008/1 (GnomAD)
HGVS:: NC_000012.12:g.49191715_49191716insCCTC, NC_000012.11:g.49585498_49585499insCCTC, NG_008966.1:g.2366_2367insGGAG

Select item 14911317068.

rs1491131706 has merged into rs1555163170 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 12:49191727 (GRCh38)
12:49585510 (GRCh37)
Canonical SPDI:: NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000012.12:49191711:TCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCT=0./0 (ALFA)
-=0.1513/583 (ALSPAC)
-=0.1583/587 (TWINSUK)
-=0.5/4 (KOREAN)
HGVS:: NC_000012.12:g.49191713CT[7], NC_000012.12:g.49191713CT[8], NC_000012.12:g.49191713CT[9], NC_000012.12:g.49191713CT[10], NC_000012.12:g.49191713CT[11], NC_000012.12:g.49191713CT[12], NC_000012.12:g.49191713CT[14], NC_000012.12:g.49191713CT[15], NC_000012.12:g.49191713CT[16], NC_000012.12:g.49191713CT[17], NC_000012.12:g.49191713CT[18], NC_000012.12:g.49191713CT[19], NC_000012.11:g.49585496CT[7], NC_000012.11:g.49585496CT[8], NC_000012.11:g.49585496CT[9], NC_000012.11:g.49585496CT[10], NC_000012.11:g.49585496CT[11], NC_000012.11:g.49585496CT[12], NC_000012.11:g.49585496CT[14], NC_000012.11:g.49585496CT[15], NC_000012.11:g.49585496CT[16], NC_000012.11:g.49585496CT[17], NC_000012.11:g.49585496CT[18], NC_000012.11:g.49585496CT[19], NG_008966.1:g.2342GA[7], NG_008966.1:g.2342GA[8], NG_008966.1:g.2342GA[9], NG_008966.1:g.2342GA[10], NG_008966.1:g.2342GA[11], NG_008966.1:g.2342GA[12], NG_008966.1:g.2342GA[14], NG_008966.1:g.2342GA[15], NG_008966.1:g.2342GA[16], NG_008966.1:g.2342GA[17], NG_008966.1:g.2342GA[18], NG_008966.1:g.2342GA[19]

Select item 14911284769.

rs1491128476 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:49186864 (GRCh38)
12:49580647 (GRCh37)
Canonical SPDI:: NC_000012.12:49186861:AAAA:AA
Gene:: TUBA1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (TWINSUK)
-=0.000008/1 (ExAC)
-=0.000259/1 (ALSPAC)
HGVS:: NC_000012.12:g.49186864_49186865del, NC_000012.11:g.49580647_49580648del, NG_008966.1:g.7216_7217del

Select item 149108002410.

rs1491080024 has merged into rs79735427 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 12:49193555 (GRCh38)
12:49587338 (GRCh37)
Canonical SPDI:: NC_000012.12:49193547:TTTTTTTTT:TTTTTTT,NC_000012.12:49193547:TTTTTTTTT:TTTTTTTT,NC_000012.12:49193547:TTTTTTTTT:TTTTTTTTTT,NC_000012.12:49193547:TTTTTTTTT:TTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.275/11 (GENOME_DK)
T=0.3274/1214 (TWINSUK)
T=0.3387/338 (GoNL)
T=0.3417/205 (NorthernSweden)
T=0.3505/1351 (ALSPAC)
T=0.4357/2182 (1000Genomes)
HGVS:: NC_000012.12:g.49193555_49193556del, NC_000012.12:g.49193556del, NC_000012.12:g.49193556dup, NC_000012.12:g.49193555_49193556dup, NC_000012.11:g.49587338_49587339del, NC_000012.11:g.49587339del, NC_000012.11:g.49587339dup, NC_000012.11:g.49587338_49587339dup, NG_008966.1:g.530_531del, NG_008966.1:g.531del, NG_008966.1:g.531dup, NG_008966.1:g.530_531dup

Select item 149075892711.

rs1490758927 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 12:49184973 (GRCh38)
12:49578756 (GRCh37)
Canonical SPDI:: NC_000012.12:49184972:T:C,NC_000012.12:49184972:T:G
Gene:: TUBA1A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.49184973T>C, NC_000012.12:g.49184973T>G, NC_000012.11:g.49578756T>C, NC_000012.11:g.49578756T>G, NG_008966.1:g.9106A>G, NG_008966.1:g.9106A>C, NM_006009.4:c.*37A>G, NM_006009.4:c.*37A>C, NM_006009.3:c.*37A>G, NM_006009.3:c.*37A>C, NM_001270399.2:c.*37A>G, NM_001270399.2:c.*37A>C, NM_001270399.1:c.*37A>G, NM_001270399.1:c.*37A>C, NM_001270400.2:c.*37A>G, NM_001270400.2:c.*37A>C, NM_001270400.1:c.*37A>G, NM_001270400.1:c.*37A>C

Select item 149039273712.

rs1490392737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49191821 (GRCh38)
12:49585604 (GRCh37)
Canonical SPDI:: NC_000012.12:49191820:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.49191821C>T, NC_000012.11:g.49585604C>T, NG_008966.1:g.2258G>A

Select item 149025654913.

rs1490256549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49190476 (GRCh38)
12:49584259 (GRCh37)
Canonical SPDI:: NC_000012.12:49190475:A:G
Gene:: TUBA1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.49190476A>G, NC_000012.11:g.49584259A>G, NG_008966.1:g.3603T>C

Select item 149018108414.

rs1490181084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49183407 (GRCh38)
12:49577190 (GRCh37)
Canonical SPDI:: NC_000012.12:49183406:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49183407T>C, NC_000012.11:g.49577190T>C, NG_008966.1:g.10672A>G

Select item 149006127915.

rs1490061279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:49193189 (GRCh38)
12:49586972 (GRCh37)
Canonical SPDI:: NC_000012.12:49193188:C:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49193189C>G, NC_000012.11:g.49586972C>G, NG_008966.1:g.890G>C

Select item 148937140316.

rs1489371403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49193254 (GRCh38)
12:49587037 (GRCh37)
Canonical SPDI:: NC_000012.12:49193253:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49193254T>C, NC_000012.11:g.49587037T>C, NG_008966.1:g.825A>G

Select item 148921386217.

rs1489213862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49185295 (GRCh38)
12:49579078 (GRCh37)
Canonical SPDI:: NC_000012.12:49185294:G:A
Gene:: TUBA1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49185295G>A, NC_000012.11:g.49579078G>A, NG_008966.1:g.8784C>T, NM_006009.4:c.1071C>T, NM_006009.3:c.1071C>T, NM_001270399.2:c.1071C>T, NM_001270399.1:c.1071C>T, NM_001270400.2:c.966C>T, NM_001270400.1:c.966C>T

Select item 148888404118.

rs1488884041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:49184571 (GRCh38)
12:49578354 (GRCh37)
Canonical SPDI:: NC_000012.12:49184570:C:A
Gene:: TUBA1A (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00372/61 (TOMMO)
A=0.07871/230 (KOREAN)
HGVS:: NC_000012.12:g.49184571C>A, NC_000012.11:g.49578354C>A, NG_008966.1:g.9508G>T

Select item 148883455619.

rs1488834556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49186008 (GRCh38)
12:49579791 (GRCh37)
Canonical SPDI:: NC_000012.12:49186007:A:G
Gene:: TUBA1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49186008A>G, NC_000012.11:g.49579791A>G, NG_008966.1:g.8071T>C

Select item 148882660320.

rs1488826603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:49183669 (GRCh38)
12:49577452 (GRCh37)
Canonical SPDI:: NC_000012.12:49183668:C:A,NC_000012.12:49183668:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49183669C>A, NC_000012.12:g.49183669C>T, NC_000012.11:g.49577452C>A, NC_000012.11:g.49577452C>T, NG_008966.1:g.10410G>T, NG_008966.1:g.10410G>A

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