SNP Links for Gene (Select 90379) - SNP

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Select item 14914458891.

rs1491445889 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:13961016 (GRCh38)
19:14071829 (GRCh37)
Canonical SPDI:: NC_000019.10:13961016:T:TT
Gene:: DCAF15 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13961017dup, NC_000019.9:g.14071829dup, NG_051220.1:g.51498dup, NW_021160022.1:g.172858dup, NM_138353.4:c.*22dup, NM_138353.3:c.*22dup, NM_138353.2:c.*22dup, NM_001393637.1:c.*22dup, NM_001393639.1:c.*22dup, NM_001393638.1:c.*22dup, NM_001393641.1:c.*22dup, NM_001393642.1:c.*22dup, NM_001393643.1:c.*22dup, NM_001393644.1:c.*22dup, NM_001393640.1:c.*22dup

Select item 14913218472.

rs1491321847 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:13951049 (GRCh38)
19:14061861 (GRCh37)
Canonical SPDI:: NC_000019.10:13951048:CA:
Gene:: PODNL1 (Varview), DCAF15 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.13951049_13951050del, NC_000019.9:g.14061861_14061862del, NW_021160022.1:g.162890_162891del

Select item 14906240483.

rs1490624048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:13957489 (GRCh38)
19:14068301 (GRCh37)
Canonical SPDI:: NC_000019.10:13957488:T:A,NC_000019.10:13957488:T:G
Gene:: DCAF15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.13957489T>A, NC_000019.10:g.13957489T>G, NC_000019.9:g.14068301T>A, NC_000019.9:g.14068301T>G, NW_021160022.1:g.169330T>A, NW_021160022.1:g.169330T>G

Select item 14904621484.

rs1490462148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13959823 (GRCh38)
19:14070635 (GRCh37)
Canonical SPDI:: NC_000019.10:13959822:G:A
Gene:: DCAF15 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13959823G>A, NC_000019.9:g.14070635G>A, NG_051220.1:g.52692C>T, NW_021160022.1:g.171664G>A, NM_138353.4:c.1368G>A, NM_138353.3:c.1368G>A, NM_138353.2:c.1368G>A, NM_001393637.1:c.1365G>A, NM_001393639.1:c.1362G>A, NM_001393638.1:c.1368G>A, NM_001393641.1:c.1311G>A, NM_001393642.1:c.1368G>A, NM_001393643.1:c.1038G>A, NM_001393644.1:c.1020G>A, NM_001393640.1:c.1332G>A

Select item 14903939005.

rs1490393900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13956603 (GRCh38)
19:14067415 (GRCh37)
Canonical SPDI:: NC_000019.10:13956602:C:T
Gene:: DCAF15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.13956603C>T, NC_000019.9:g.14067415C>T, NW_021160022.1:g.168444C>T

Select item 14901768896.

rs1490176889 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGCCCAGGGCGGGCAGGG [Show Flanks]
Chromosome:: 19:13959897 (GRCh38)
19:14070710 (GRCh37)
Canonical SPDI:: NC_000019.10:13959897:GGGCCCAGGGCGGGCAGGG:GGGCCCAGGGCGGGCAGGGGGGGCCCAGGGCGGGCAGGG
Gene:: DCAF15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GGGCCCAGGGCGGGCAGGGG=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13959916_13959917insGGGGCCCAGGGCGGGCAGGG, NC_000019.9:g.14070728_14070729insGGGGCCCAGGGCGGGCAGGG, NG_051220.1:g.52617_52618insCCCCTGCCCGCCCTGGGCCC, NW_021160022.1:g.171757_171758insGGGGCCCAGGGCGGGCAGGG

Select item 14900797887.

rs1490079788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13957423 (GRCh38)
19:14068235 (GRCh37)
Canonical SPDI:: NC_000019.10:13957422:G:A
Gene:: DCAF15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.13957423G>A, NC_000019.9:g.14068235G>A, NW_021160022.1:g.169264G>A

Select item 14898079608.

rs1489807960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:13957889 (GRCh38)
19:14068701 (GRCh37)
Canonical SPDI:: NC_000019.10:13957888:A:G
Gene:: DCAF15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13957889A>G, NC_000019.9:g.14068701A>G, NW_021160022.1:g.169730A>G

Select item 14889681369.

rs1488968136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:13955178 (GRCh38)
19:14065990 (GRCh37)
Canonical SPDI:: NC_000019.10:13955177:T:C
Gene:: PODNL1 (Varview), DCAF15 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000019.10:g.13955178T>C, NC_000019.9:g.14065990T>C, NW_021160022.1:g.167019T>C

Select item 148883658510.

rs1488836585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:13956567 (GRCh38)
19:14067379 (GRCh37)
Canonical SPDI:: NC_000019.10:13956566:G:A,NC_000019.10:13956566:G:T
Gene:: DCAF15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13956567G>A, NC_000019.10:g.13956567G>T, NC_000019.9:g.14067379G>A, NC_000019.9:g.14067379G>T, NW_021160022.1:g.168408G>A, NW_021160022.1:g.168408G>T

Select item 148869675711.

rs1488696757 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAG [Show Flanks]
Chromosome:: 19:13961934 (GRCh38)
19:14072747 (GRCh37)
Canonical SPDI:: NC_000019.10:13961934:AGATAG:AGATAGATAG
Gene:: RFX1 (Varview), DCAF15 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGATAGATAG=0./0 (ALFA)
AGAT=0.000004/1 (TOPMED)
AGAT=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13961937_13961940dup, NC_000019.9:g.14072749_14072752dup, NG_051220.1:g.50577_50580dup, NM_002918.5:c.*757_*760dup, NM_002918.4:c.*757_*760dup, NW_021160022.1:g.173778_173781dup, XM_011528166.3:c.*757_*760dup, XM_011528166.2:c.*757_*760dup, XM_011528166.1:c.*757_*760dup, XM_011528167.3:c.*757_*760dup, XM_011528167.2:c.*757_*760dup, XM_011528167.1:c.*757_*760dup, XM_011528169.3:c.*757_*760dup, XM_011528169.2:c.*757_*760dup, XM_011528169.1:c.*757_*760dup, XM_011528170.3:c.*757_*760dup, XM_011528170.2:c.*757_*760dup, XM_011528170.1:c.*757_*760dup, XM_047439192.1:c.*757_*760dup, XM_047439193.1:c.*757_*760dup, XM_047439194.1:c.*757_*760dup, XM_047439195.1:c.*757_*760dup

Select item 148847626712.

rs1488476267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:13951073 (GRCh38)
19:14061885 (GRCh37)
Canonical SPDI:: NC_000019.10:13951072:T:A
Gene:: PODNL1 (Varview), DCAF15 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.00025/7 (TOMMO)
HGVS:: NC_000019.10:g.13951073T>A, NC_000019.9:g.14061885T>A, NW_021160022.1:g.162914T>A

Select item 148824829213.

rs1488248292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:13952163 (GRCh38)
19:14062975 (GRCh37)
Canonical SPDI:: NC_000019.10:13952162:G:A,NC_000019.10:13952162:G:T
Gene:: PODNL1 (Varview), DCAF15 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00016/1 (1000Genomes)
T=0.00099/17 (TOMMO)
T=0.00137/4 (KOREAN)
T=0.00276/5 (Korea1K)
HGVS:: NC_000019.10:g.13952163G>A, NC_000019.10:g.13952163G>T, NC_000019.9:g.14062975G>A, NC_000019.9:g.14062975G>T, NW_021160022.1:g.164004G>A, NW_021160022.1:g.164004G>T

Select item 148814026014.

rs1488140260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:13953136 (GRCh38)
19:14063948 (GRCh37)
Canonical SPDI:: NC_000019.10:13953135:T:C
Gene:: PODNL1 (Varview), DCAF15 (Varview)
Functional Consequence:: initiator_codon_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13953136T>C, NC_000019.9:g.14063948T>C, NW_021160022.1:g.164977T>C, NM_001146254.2:c.1A>G, NM_001146254.1:c.1A>G, NM_001146255.2:c.1A>G, NM_001146255.1:c.1A>G, XM_011528308.1:c.1A>G, XM_047439453.1:c.1A>G, NP_001139726.1:p.Met1Val, NP_001139727.1:p.Met1Val, XP_011526610.1:p.Met1Val, XP_047295409.1:p.Met1Val

Select item 148774455015.

rs1487744550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13958993 (GRCh38)
19:14069805 (GRCh37)
Canonical SPDI:: NC_000019.10:13958992:C:T
Gene:: DCAF15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.13958993C>T, NC_000019.9:g.14069805C>T, NW_021160022.1:g.170834C>T

Select item 148767973616.

rs1487679736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:13961835 (GRCh38)
19:14072647 (GRCh37)
Canonical SPDI:: NC_000019.10:13961834:C:A
Gene:: RFX1 (Varview), DCAF15 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.13961835C>A, NC_000019.9:g.14072647C>A, NG_051220.1:g.50680G>T, NM_002918.5:c.*860G>T, NM_002918.4:c.*860G>T, NW_021160022.1:g.173676C>A, XM_011528166.3:c.*860G>T, XM_011528166.2:c.*860G>T, XM_011528166.1:c.*860G>T, XM_011528167.3:c.*860G>T, XM_011528167.2:c.*860G>T, XM_011528167.1:c.*860G>T, XM_011528169.3:c.*860G>T, XM_011528169.2:c.*860G>T, XM_011528169.1:c.*860G>T, XM_011528170.3:c.*860G>T, XM_011528170.2:c.*860G>T, XM_011528170.1:c.*860G>T, XM_047439192.1:c.*860G>T, XM_047439193.1:c.*860G>T, XM_047439194.1:c.*860G>T, XM_047439195.1:c.*860G>T

Select item 148749250917.

rs1487492509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:13951951 (GRCh38)
19:14062763 (GRCh37)
Canonical SPDI:: NC_000019.10:13951950:T:A
Gene:: PODNL1 (Varview), DCAF15 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13951951T>A, NC_000019.9:g.14062763T>A, NW_021160022.1:g.163792T>A

Select item 148743132418.

rs1487431324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:13953864 (GRCh38)
19:14064676 (GRCh37)
Canonical SPDI:: NC_000019.10:13953863:G:A,NC_000019.10:13953863:G:C
Gene:: PODNL1 (Varview), DCAF15 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.13953864G>A, NC_000019.10:g.13953864G>C, NC_000019.9:g.14064676G>A, NC_000019.9:g.14064676G>C, NW_021160022.1:g.165705G>A, NW_021160022.1:g.165705G>C

Select item 148739703419.

rs1487397034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:13956298 (GRCh38)
19:14067110 (GRCh37)
Canonical SPDI:: NC_000019.10:13956297:C:A,NC_000019.10:13956297:C:G
Gene:: DCAF15 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
A=0.000017/2 (ExAC)
HGVS:: NC_000019.10:g.13956298C>A, NC_000019.10:g.13956298C>G, NC_000019.9:g.14067110C>A, NC_000019.9:g.14067110C>G, NW_021160022.1:g.168139C>A, NW_021160022.1:g.168139C>G

Select item 148727756120.

rs1487277561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13961594 (GRCh38)
19:14072406 (GRCh37)
Canonical SPDI:: NC_000019.10:13961593:G:A
Gene:: RFX1 (Varview), DCAF15 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000106/3 (TOMMO)
HGVS:: NC_000019.10:g.13961594G>A, NC_000019.9:g.14072406G>A, NG_051220.1:g.50921C>T, NM_002918.5:c.*1101C>T, NM_002918.4:c.*1101C>T, NW_021160022.1:g.173435G>A, XM_011528166.3:c.*1101C>T, XM_011528166.2:c.*1101C>T, XM_011528166.1:c.*1101C>T, XM_011528167.3:c.*1101C>T, XM_011528167.2:c.*1101C>T, XM_011528167.1:c.*1101C>T, XM_011528169.3:c.*1101C>T, XM_011528169.2:c.*1101C>T, XM_011528169.1:c.*1101C>T, XM_011528170.3:c.*1101C>T, XM_011528170.2:c.*1101C>T, XM_011528170.1:c.*1101C>T, XM_047439192.1:c.*1101C>T, XM_047439193.1:c.*1101C>T, XM_047439194.1:c.*1101C>T, XM_047439195.1:c.*1101C>T

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