SNP Links for Gene (Select 7846) - SNP

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Select item 14912242221.

rs1491224222 [Homo sapiens]

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

Select item 14911284762.

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 14907589273.

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 14902565494.

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 14892138625.

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 14888840416.

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 14888345567.

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 14888232908.

rs1488823290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:49185922 (GRCh38)
12:49579705 (GRCh37)
Canonical SPDI:: NC_000012.12:49185921:C:T
Gene:: TUBA1A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49185922C>T, NC_000012.11:g.49579705C>T, NG_008966.1:g.8157G>A, NM_006009.4:c.444G>A, NM_006009.3:c.444G>A, NM_001270399.2:c.444G>A, NM_001270399.1:c.444G>A, NM_001270400.2:c.339G>A, NM_001270400.1:c.339G>A

Select item 14881255329.

rs1488125532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49185849 (GRCh38)
12:49579632 (GRCh37)
Canonical SPDI:: NC_000012.12:49185848:G:A
Gene:: TUBA1A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.49185849G>A, NC_000012.11:g.49579632G>A, NG_008966.1:g.8230C>T, NM_006009.4:c.517C>T, NM_006009.3:c.517C>T, NM_001270399.2:c.517C>T, NM_001270399.1:c.517C>T, NM_001270400.2:c.412C>T, NM_001270400.1:c.412C>T, NP_006000.2:p.Pro173Ser, NP_001257328.1:p.Pro173Ser, NP_001257329.1:p.Pro138Ser

Select item 148706005910.

rs1487060059 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATCA>- [Show Flanks]
Chromosome:: 12:49190988 (GRCh38)
12:49584771 (GRCh37)
Canonical SPDI:: NC_000012.12:49190986:ATATCA:A
Gene:: TUBA1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.49190988_49190992del, NC_000012.11:g.49584771_49584775del, NG_008966.1:g.3088_3092del

Select item 148642277311.

rs1486422773 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 12:49187325 (GRCh38)
12:49581108 (GRCh37)
Canonical SPDI:: NC_000012.12:49187322:AGGAG:AG
Gene:: TUBA1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0.000071/1 (ALFA)
-=0.000053/14 (TOPMED)
-=0.000057/8 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000012.12:g.49187325_49187327del, NC_000012.11:g.49581108_49581110del, NG_008966.1:g.6754_6756del

Select item 148594410712.

rs1485944107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49186994 (GRCh38)
12:49580777 (GRCh37)
Canonical SPDI:: NC_000012.12:49186993:T:C
Gene:: TUBA1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.49186994T>C, NC_000012.11:g.49580777T>C, NG_008966.1:g.7085A>G

Select item 148582842613.

rs1485828426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49189820 (GRCh38)
12:49583603 (GRCh37)
Canonical SPDI:: NC_000012.12:49189819:G:A
Gene:: TUBA1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000012.12:g.49189820G>A, NC_000012.11:g.49583603G>A, NG_008966.1:g.4259C>T

Select item 148562043214.

rs1485620432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:49189907 (GRCh38)
12:49583690 (GRCh37)
Canonical SPDI:: NC_000012.12:49189906:G:A,NC_000012.12:49189906:G:C
Gene:: TUBA1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.49189907G>A, NC_000012.12:g.49189907G>C, NC_000012.11:g.49583690G>A, NC_000012.11:g.49583690G>C, NG_008966.1:g.4172C>T, NG_008966.1:g.4172C>G

Select item 148561837215.

rs1485618372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:49186278 (GRCh38)
12:49580061 (GRCh37)
Canonical SPDI:: NC_000012.12:49186277:T:C
Gene:: TUBA1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.49186278T>C, NC_000012.11:g.49580061T>C, NG_008966.1:g.7801A>G

Select item 148556267216.

rs1485562672 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:49187289 (GRCh38)
12:49581073 (GRCh37)
Canonical SPDI:: NC_000012.12:49187289:TT:TTT
Gene:: TUBA1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.49187291dup, NC_000012.11:g.49581074dup, NG_008966.1:g.6789dup

Select item 148476739917.

rs1484767399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:49187142 (GRCh38)
12:49580925 (GRCh37)
Canonical SPDI:: NC_000012.12:49187141:G:A
Gene:: TUBA1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.49187142G>A, NC_000012.11:g.49580925G>A, NG_008966.1:g.6937C>T

Select item 148385095918.

rs1483850959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:49190034 (GRCh38)
12:49583817 (GRCh37)
Canonical SPDI:: NC_000012.12:49190033:A:T
Gene:: TUBA1A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.49190034A>T, NC_000012.11:g.49583817A>T, NG_008966.1:g.4045T>A

Select item 148269662519.

rs1482696625 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:49186484 (GRCh38)
12:49580267 (GRCh37)
Canonical SPDI:: NC_000012.12:49186483:A:
Gene:: TUBA1A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000016/4 (GnomAD_exomes)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.49186484del, NC_000012.11:g.49580267del, NG_008966.1:g.7595del

Select item 148224738720.

rs1482247387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:49190142 (GRCh38)
12:49583925 (GRCh37)
Canonical SPDI:: NC_000012.12:49190141:A:G
Gene:: TUBA1A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.49190142A>G, NC_000012.11:g.49583925A>G, NG_008966.1:g.3937T>C

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