SNP Links for Gene (Select 85378) - SNP

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Select item 14912866371.

rs1491286637 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 22:50223780 (GRCh38)
22:50662210 (GRCh37)
Canonical SPDI:: NC_000022.11:50223780::CA
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0.00008/1 (ALFA)
CA=0.00002/1 (GnomAD)
HGVS:: NC_000022.11:g.50223780_50223781insCA, NC_000022.10:g.50662209_50662210insCA, NG_032160.1:g.26191_26192insTG

Select item 14912346972.

rs1491234697 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:50221268 (GRCh38)
22:50659697 (GRCh37)
Canonical SPDI:: NC_000022.11:50221267:CT:
Gene:: TUBGCP6 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000025/3 (ExAC)
-=0.000029/4 (GnomAD)
-=0.00003/8 (TOPMED)
-=0.000032/8 (GnomAD_exomes)
-=0.00006/1 (TOMMO)
HGVS:: NC_000022.11:g.50221268_50221269del, NC_000022.10:g.50659697_50659698del, NG_032160.1:g.28703_28704del, NM_020461.4:c.3090_3091del, NM_020461.3:c.3090_3091del, XR_938347.3:n.3654_3655del, XR_938347.2:n.3659_3660del, XR_938347.1:n.3655_3656del, XR_001755343.3:n.3654_3655del, XR_001755343.2:n.3659_3660del, XR_001755343.1:n.3655_3656del, NM_001008658.1:c.3090_3091del, NP_065194.3:p.Gly1032fs

Select item 14911928943.

rs1491192894 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:50243617 (GRCh38)
22:50682046 (GRCh37)
Canonical SPDI:: NC_000022.11:50243616:CA:
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.50243617_50243618del, NC_000022.10:g.50682046_50682047del, NG_032160.1:g.6354_6355del, NG_029758.1:g.12788_12789del

Select item 14911653444.

rs1491165344 has merged into rs146778199 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 22:50238149 (GRCh38)
22:50676578 (GRCh37)
Canonical SPDI:: NC_000022.11:50238137:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000022.11:50238137:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000022.11:50238137:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000022.11:50238137:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000022.11:50238137:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000022.11:50238137:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000022.11:50238137:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000022.11:50238137:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000022.11:50238137:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGA=0./0 (ALFA)
AG=0.2/8 (GENOME_DK)
AG=0.21086/1056 (1000Genomes)
AG=0.24667/148 (NorthernSweden)
HGVS:: NC_000022.11:g.50238139GA[5], NC_000022.11:g.50238139GA[6], NC_000022.11:g.50238139GA[7], NC_000022.11:g.50238139GA[8], NC_000022.11:g.50238139GA[9], NC_000022.11:g.50238139GA[11], NC_000022.11:g.50238139GA[12], NC_000022.11:g.50238139GA[13], NC_000022.11:g.50238139GA[14], NC_000022.10:g.50676568GA[5], NC_000022.10:g.50676568GA[6], NC_000022.10:g.50676568GA[7], NC_000022.10:g.50676568GA[8], NC_000022.10:g.50676568GA[9], NC_000022.10:g.50676568GA[11], NC_000022.10:g.50676568GA[12], NC_000022.10:g.50676568GA[13], NC_000022.10:g.50676568GA[14], NG_032160.1:g.11815CT[5], NG_032160.1:g.11815CT[6], NG_032160.1:g.11815CT[7], NG_032160.1:g.11815CT[8], NG_032160.1:g.11815CT[9], NG_032160.1:g.11815CT[11], NG_032160.1:g.11815CT[12], NG_032160.1:g.11815CT[13], NG_032160.1:g.11815CT[14]

Select item 14911415755.

rs1491141575 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:50223780 (GRCh38)
22:50662209 (GRCh37)
Canonical SPDI:: NC_000022.11:50223779:CA:
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02209/262 (ALFA)
-=0.00101/28 (TOMMO)
-=0.00315/107 (GnomAD)
HGVS:: NC_000022.11:g.50223780_50223781del, NC_000022.10:g.50662209_50662210del, NG_032160.1:g.26191_26192del

Select item 14910872896.

rs1491087289 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:50223773 (GRCh38)
22:50662203 (GRCh37)
Canonical SPDI:: NC_000022.11:50223773:T:TT
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50223774dup, NC_000022.10:g.50662203dup, NG_032160.1:g.26198dup

Select item 14910026727.

rs1491002672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50243479 (GRCh38)
22:50681908 (GRCh37)
Canonical SPDI:: NC_000022.11:50243478:G:A
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000038/10 (TOPMED)
A=0.00006/1 (TOMMO)
A=0.000156/1 (1000Genomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.50243479G>A, NC_000022.10:g.50681908G>A, NG_032160.1:g.6493C>T, NG_029758.1:g.12927C>T

Select item 14909733728.

rs1490973372 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50218594 (GRCh38)
22:50657023 (GRCh37)
Canonical SPDI:: NC_000022.11:50218593:G:A
Gene:: TUBGCP6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.50218594G>A, NC_000022.10:g.50657023G>A, NG_032160.1:g.31378C>T, NM_020461.4:c.4848C>T, NM_020461.3:c.4848C>T, XR_938347.3:n.5405C>T, XR_938347.2:n.5410C>T, XR_938347.1:n.5406C>T, NM_001008658.1:c.*769C>T

Select item 14908873649.

rs1490887364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:50231904 (GRCh38)
22:50670333 (GRCh37)
Canonical SPDI:: NC_000022.11:50231903:A:G,NC_000022.11:50231903:A:T
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000142/2 (TOMMO)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.50231904A>G, NC_000022.11:g.50231904A>T, NC_000022.10:g.50670333A>G, NC_000022.10:g.50670333A>T, NG_032160.1:g.18068T>C, NG_032160.1:g.18068T>A

Select item 149057808210.

rs1490578082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:50235358 (GRCh38)
22:50673787 (GRCh37)
Canonical SPDI:: NC_000022.11:50235357:T:G
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00014/2 (GnomAD)
HGVS:: NC_000022.11:g.50235358T>G, NC_000022.10:g.50673787T>G, NG_032160.1:g.14614A>C

Select item 149054703311.

rs1490547033 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTCCCCCTTGGCACCCACCCTTCATCTCA>-,GCTCCCCCTTGGCACCCACCCTTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCA [Show Flanks]
Chromosome:: 22:50225576 (GRCh38)
22:50664005 (GRCh37)
Canonical SPDI:: NC_000022.11:50225566:TTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCA:TTCATCTCA,NC_000022.11:50225566:TTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCA:TTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCA
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCATCTCA=0.00092/15 (ALFA)
-=0.00109/2 (Korea1K)
HGVS:: NC_000022.11:g.50225576_50225605del, NC_000022.11:g.50225576_50225605dup, NC_000022.10:g.50664005_50664034del, NC_000022.10:g.50664005_50664034dup, NG_032160.1:g.24376_24405del, NG_032160.1:g.24376_24405dup

Select item 149039821612.

rs1490398216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:50231707 (GRCh38)
22:50670136 (GRCh37)
Canonical SPDI:: NC_000022.11:50231706:A:C
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50231707A>C, NC_000022.10:g.50670136A>C, NG_032160.1:g.18265T>G

Select item 149037598313.

rs1490375983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:50242337 (GRCh38)
22:50680766 (GRCh37)
Canonical SPDI:: NC_000022.11:50242336:A:G,NC_000022.11:50242336:A:T
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.50242337A>G, NC_000022.11:g.50242337A>T, NC_000022.10:g.50680766A>G, NC_000022.10:g.50680766A>T, NG_032160.1:g.7635T>C, NG_032160.1:g.7635T>A

Select item 149028882814.

rs1490288828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:50227483 (GRCh38)
22:50665912 (GRCh37)
Canonical SPDI:: NC_000022.11:50227482:T:A
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50227483T>A, NC_000022.10:g.50665912T>A, NG_032160.1:g.22489A>T

Select item 149028665915.

rs1490286659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50244158 (GRCh38)
22:50682587 (GRCh37)
Canonical SPDI:: NC_000022.11:50244157:C:T
Gene:: TUBGCP6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.50244158C>T, NC_000022.10:g.50682587C>T, NG_032160.1:g.5814G>A, NM_020461.4:c.302G>A, NM_020461.3:c.302G>A, NG_029758.1:g.12248G>A, XR_938347.3:n.866G>A, XR_938347.2:n.871G>A, XR_938347.1:n.867G>A, XR_001755343.3:n.866G>A, XR_001755343.2:n.871G>A, XR_001755343.1:n.867G>A, NM_001008658.1:c.302G>A, XR_007067982.1:n.866G>A, NP_065194.3:p.Cys101Tyr

Select item 149025212416.

rs1490252124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50236912 (GRCh38)
22:50675341 (GRCh37)
Canonical SPDI:: NC_000022.11:50236911:T:C
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.50236912T>C, NC_000022.10:g.50675341T>C, NG_032160.1:g.13060A>G

Select item 149019683217.

rs1490196832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:50235197 (GRCh38)
22:50673626 (GRCh37)
Canonical SPDI:: NC_000022.11:50235196:C:T
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000043/6 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.50235197C>T, NC_000022.10:g.50673626C>T, NG_032160.1:g.14775G>A

Select item 148983003618.

rs1489830036 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:50236990 (GRCh38)
22:50675419 (GRCh37)
Canonical SPDI:: NC_000022.11:50236989:T:C
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.50236990T>C, NC_000022.10:g.50675419T>C, NG_032160.1:g.12982A>G

Select item 148977008719.

rs1489770087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:50237739 (GRCh38)
22:50676168 (GRCh37)
Canonical SPDI:: NC_000022.11:50237738:A:G
Gene:: TUBGCP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.50237739A>G, NC_000022.10:g.50676168A>G, NG_032160.1:g.12233T>C

Select item 148976276120.

rs1489762761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:50243893 (GRCh38)
22:50682322 (GRCh37)
Canonical SPDI:: NC_000022.11:50243892:G:A
Gene:: TUBGCP6 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.50243893G>A, NC_000022.10:g.50682322G>A, NG_032160.1:g.6079C>T, NM_020461.4:c.567C>T, NM_020461.3:c.567C>T, NG_029758.1:g.12513C>T, XR_938347.3:n.1131C>T, XR_938347.2:n.1136C>T, XR_938347.1:n.1132C>T, XR_001755343.3:n.1131C>T, XR_001755343.2:n.1136C>T, XR_001755343.1:n.1132C>T, NM_001008658.1:c.567C>T, XR_007067982.1:n.1131C>T

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