SNP Links for Gene (Select 652995) - SNP

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Links from Gene

Items: 1 to 20 of 2181

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Select item 14901111431.

rs1490111143 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAG>- [Show Flanks]
Chromosome:: 19:15836318 (GRCh38)
19:15947128 (GRCh37)
Canonical SPDI:: NC_000019.10:15836315:AGTCAG:AG
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000045/12 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000019.10:g.15836318_15836321del, NC_000019.9:g.15947128_15947131del, NR_015379.3:n.2311_2314del, XM_047439793.1:c.-84_-81del, XM_047439792.1:c.-84_-81del, XM_047439791.1:c.-118_-115del

Select item 14895379622.

rs1489537962 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:15835430 (GRCh38)
19:15946241 (GRCh37)
Canonical SPDI:: NC_000019.10:15835430:A:AA
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.15835431dup, NC_000019.9:g.15946241dup, NR_015379.3:n.1424dup, XM_047439793.1:c.-971dup

Select item 14892189323.

rs1489218932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:15828233 (GRCh38)
19:15939043 (GRCh37)
Canonical SPDI:: NC_000019.10:15828232:G:C,NC_000019.10:15828232:G:T
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15828233G>C, NC_000019.10:g.15828233G>T, NC_000019.9:g.15939043G>C, NC_000019.9:g.15939043G>T

Select item 14891667524.

rs1489166752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:15829233 (GRCh38)
19:15940043 (GRCh37)
Canonical SPDI:: NC_000019.10:15829232:T:C
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15829233T>C, NC_000019.9:g.15940043T>C, NR_015379.3:n.287T>C, XM_047439793.1:c.-1392T>C, XM_047439792.1:c.-384T>C

Select item 14890127495.

rs1489012749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:15836625 (GRCh38)
19:15947435 (GRCh37)
Canonical SPDI:: NC_000019.10:15836624:G:C
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.15836625G>C, NC_000019.9:g.15947435G>C, XM_047439793.1:c.224G>C, XM_047439792.1:c.224G>C, XM_047439791.1:c.190G>C, XP_047295749.1:p.Arg75Thr, XP_047295748.1:p.Arg75Thr, XP_047295747.1:p.Gly64Arg

Select item 14889218406.

rs1488921840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:15831848 (GRCh38)
19:15942658 (GRCh37)
Canonical SPDI:: NC_000019.10:15831847:C:A
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.15831848C>A, NC_000019.9:g.15942658C>A

Select item 14875362087.

rs1487536208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:15835230 (GRCh38)
19:15946040 (GRCh37)
Canonical SPDI:: NC_000019.10:15835229:G:A,NC_000019.10:15835229:G:C
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.001092/2 (Korea1K)
HGVS:: NC_000019.10:g.15835230G>A, NC_000019.10:g.15835230G>C, NC_000019.9:g.15946040G>A, NC_000019.9:g.15946040G>C, NR_015379.3:n.1223G>A, NR_015379.3:n.1223G>C, XM_047439793.1:c.-1172G>A, XM_047439793.1:c.-1172G>C, XM_047439792.1:c.-164G>A, XM_047439792.1:c.-164G>C, XM_047439791.1:c.-198G>A, XM_047439791.1:c.-198G>C

Select item 14873414488.

rs1487341448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:15829704 (GRCh38)
19:15940514 (GRCh37)
Canonical SPDI:: NC_000019.10:15829703:T:C
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.15829704T>C, NC_000019.9:g.15940514T>C

Select item 14867038509.

rs1486703850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:15828043 (GRCh38)
19:15938853 (GRCh37)
Canonical SPDI:: NC_000019.10:15828042:G:A
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15828043G>A, NC_000019.9:g.15938853G>A

Select item 148669458910.

rs1486694589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:15826972 (GRCh38)
19:15937782 (GRCh37)
Canonical SPDI:: NC_000019.10:15826971:T:C
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.15826972T>C, NC_000019.9:g.15937782T>C

Select item 148662419011.

rs1486624190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:15833354 (GRCh38)
19:15944164 (GRCh37)
Canonical SPDI:: NC_000019.10:15833353:T:C
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.15833354T>C, NC_000019.9:g.15944164T>C

Select item 148648952512.

rs1486489525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:15834421 (GRCh38)
19:15945231 (GRCh37)
Canonical SPDI:: NC_000019.10:15834420:C:G,NC_000019.10:15834420:C:T
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.15834421C>G, NC_000019.10:g.15834421C>T, NC_000019.9:g.15945231C>G, NC_000019.9:g.15945231C>T

Select item 148600092513.

rs1486000925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:15830000 (GRCh38)
19:15940810 (GRCh37)
Canonical SPDI:: NC_000019.10:15829999:C:T
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.15830000C>T, NC_000019.9:g.15940810C>T

Select item 148596985714.

rs1485969857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:15829167 (GRCh38)
19:15939977 (GRCh37)
Canonical SPDI:: NC_000019.10:15829166:G:A
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15829167G>A, NC_000019.9:g.15939977G>A, NR_015379.3:n.221G>A, XM_047439793.1:c.-1458G>A, XM_047439792.1:c.-450G>A

Select item 148596506515.

rs1485965065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:15830570 (GRCh38)
19:15941380 (GRCh37)
Canonical SPDI:: NC_000019.10:15830569:T:C
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.270145/4412 (ALFA)
C=0.001854/231 (GnomAD)
C=0.020819/61 (KOREAN)
C=0.023884/107 (Estonian)
C=0.038927/1100 (TOMMO)
HGVS:: NC_000019.10:g.15830570T>C, NC_000019.9:g.15941380T>C

Select item 148544516916.

rs1485445169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:15833568 (GRCh38)
19:15944378 (GRCh37)
Canonical SPDI:: NC_000019.10:15833567:C:A
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.15833568C>A, NC_000019.9:g.15944378C>A

Select item 148538542017.

rs1485385420 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:15831334 (GRCh38)
19:15942144 (GRCh37)
Canonical SPDI:: NC_000019.10:15831333:T:G
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.15831334T>G, NC_000019.9:g.15942144T>G, NR_015379.3:n.472T>G, XM_047439793.1:c.-1207T>G, XM_047439792.1:c.-199T>G

Select item 148487482818.

rs1484874828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:15836234 (GRCh38)
19:15947044 (GRCh37)
Canonical SPDI:: NC_000019.10:15836233:T:C
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.15836234T>C, NC_000019.9:g.15947044T>C, NR_015379.3:n.2227T>C, XM_047439793.1:c.-168T>C

Select item 148453290619.

rs1484532906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:15833497 (GRCh38)
19:15944307 (GRCh37)
Canonical SPDI:: NC_000019.10:15833496:G:C
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15833497G>C, NC_000019.9:g.15944307G>C

Select item 148421729720.

rs1484217297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:15835842 (GRCh38)
19:15946652 (GRCh37)
Canonical SPDI:: NC_000019.10:15835841:C:A
Gene:: UCA1 (Varview), LOC124900418 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.15835842C>A, NC_000019.9:g.15946652C>A, NR_015379.3:n.1835C>A, XM_047439793.1:c.-560C>A

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