SNP Links for Gene (Select 613212) - SNP

Links from Gene

Items: 1 to 20 of 2824

<< First< Prev

Page of 142

Next >Last >>

Select item 14906229111.

rs1490622911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:127653292 (GRCh38)
5:126988984 (GRCh37)
Canonical SPDI:: NC_000005.10:127653291:A:G
Gene:: CTXN3 (Varview), LOC105379164 (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)
HGVS:: NC_000005.10:g.127653292A>G, NC_000005.9:g.126988984A>G

Select item 14900955482.

rs1490095548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:127651856 (GRCh38)
5:126987548 (GRCh37)
Canonical SPDI:: NC_000005.10:127651855:C:T
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.127651856C>T, NC_000005.9:g.126987548C>T

Select item 14900457983.

rs1490045798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:127651119 (GRCh38)
5:126986811 (GRCh37)
Canonical SPDI:: NC_000005.10:127651118:A:G
Gene:: CTXN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.127651119A>G, NC_000005.9:g.126986811A>G

Select item 14898552224.

rs1489855222 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:127658304 (GRCh38)
5:126993996 (GRCh37)
Canonical SPDI:: NC_000005.10:127658301:AAAA:AA
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000071/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000005.10:g.127658304_127658305del, NC_000005.9:g.126993996_126993997del, NM_001048252.3:c.*537_*538del, NM_001048252.2:c.*537_*538del, NM_001127385.2:c.*537_*538del, NM_001127385.1:c.*537_*538del

Select item 14895274935.

rs1489527493 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:127647331 (GRCh38)
5:126983023 (GRCh37)
Canonical SPDI:: NC_000005.10:127647328:ACAC:AC
Gene:: CTXN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.127647329AC[1], NC_000005.9:g.126983021AC[1]

Select item 14895230256.

rs1489523025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:127647632 (GRCh38)
5:126983324 (GRCh37)
Canonical SPDI:: NC_000005.10:127647631:G:A
Gene:: CTXN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.127647632G>A, NC_000005.9:g.126983324G>A

Select item 14893612577.

rs1489361257 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:127658223 (GRCh38)
5:126993915 (GRCh37)
Canonical SPDI:: NC_000005.10:127658222:AA:A
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.127658224del, NC_000005.9:g.126993916del, NM_001048252.3:c.*457del, NM_001048252.2:c.*457del, NM_001127385.2:c.*457del, NM_001127385.1:c.*457del

Select item 14890958108.

rs1489095810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:127653637 (GRCh38)
5:126989329 (GRCh37)
Canonical SPDI:: NC_000005.10:127653636:C:T
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.127653637C>T, NC_000005.9:g.126989329C>T

Select item 14885813409.

rs1488581340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:127647317 (GRCh38)
5:126983009 (GRCh37)
Canonical SPDI:: NC_000005.10:127647316:G:A
Gene:: CTXN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.127647317G>A, NC_000005.9:g.126983009G>A

Select item 148824276610.

rs1488242766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:127656320 (GRCh38)
5:126992012 (GRCh37)
Canonical SPDI:: NC_000005.10:127656319:A:T
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.127656320A>T, NC_000005.9:g.126992012A>T

Select item 148818585511.

rs1488185855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:127654181 (GRCh38)
5:126989873 (GRCh37)
Canonical SPDI:: NC_000005.10:127654180:A:G
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.127654181A>G, NC_000005.9:g.126989873A>G

Select item 148811224912.

rs1488112249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:127653206 (GRCh38)
5:126988898 (GRCh37)
Canonical SPDI:: NC_000005.10:127653205:G:C,NC_000005.10:127653205:G:T
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.127653206G>C, NC_000005.10:g.127653206G>T, NC_000005.9:g.126988898G>C, NC_000005.9:g.126988898G>T

Select item 148712858613.

rs1487128586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:127652744 (GRCh38)
5:126988436 (GRCh37)
Canonical SPDI:: NC_000005.10:127652743:C:A,NC_000005.10:127652743:C:T
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.127652744C>A, NC_000005.10:g.127652744C>T, NC_000005.9:g.126988436C>A, NC_000005.9:g.126988436C>T

Select item 148678659914.

rs1486786599 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACAG>- [Show Flanks]
Chromosome:: 5:127652417 (GRCh38)
5:126988109 (GRCh37)
Canonical SPDI:: NC_000005.10:127652413:CAGAACAG:CAG
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.127652417_127652421del, NC_000005.9:g.126988109_126988113del

Select item 148676325315.

rs1486763253 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 5:127654423 (GRCh38)
5:126990115 (GRCh37)
Canonical SPDI:: NC_000005.10:127654422:TT:T
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.00003/8 (TOPMED)
-=0.000035/1 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.127654424del, NC_000005.9:g.126990116del

Select item 148675241816.

rs1486752418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:127655972 (GRCh38)
5:126991664 (GRCh37)
Canonical SPDI:: NC_000005.10:127655971:A:G
Gene:: CTXN3 (Varview), LOC105379164 (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)
HGVS:: NC_000005.10:g.127655972A>G, NC_000005.9:g.126991664A>G

Select item 148639856517.

rs1486398565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:127649539 (GRCh38)
5:126985231 (GRCh37)
Canonical SPDI:: NC_000005.10:127649538:C:T
Gene:: CTXN3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.127649539C>T, NC_000005.9:g.126985231C>T

Select item 148633268318.

rs1486332683 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:127649163 (GRCh38)
5:126984855 (GRCh37)
Canonical SPDI:: NC_000005.10:127649162:CC:C
Gene:: CTXN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000038/10 (TOPMED)
HGVS:: NC_000005.10:g.127649164del, NC_000005.9:g.126984856del, NM_001048252.3:c.-431del, NM_001048252.2:c.-431del

Select item 148626112519.

rs1486261125 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAG>- [Show Flanks]
Chromosome:: 5:127648246 (GRCh38)
5:126983938 (GRCh37)
Canonical SPDI:: NC_000005.10:127648242:CAGTCAG:CAG
Gene:: CTXN3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.127648246_127648249del, NC_000005.9:g.126983938_126983941del

Select item 148583197020.

rs1485831970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:127657531 (GRCh38)
5:126993223 (GRCh37)
Canonical SPDI:: NC_000005.10:127657530:G:A
Gene:: CTXN3 (Varview), LOC105379164 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.127657531G>A, NC_000005.9:g.126993223G>A, NM_001048252.3:c.10G>A, NM_001048252.2:c.10G>A, NM_001127385.2:c.10G>A, NM_001127385.1:c.10G>A, NP_001041717.1:p.Gly4Arg, NP_001120857.1:p.Gly4Arg

<< First< Prev

Page of 142

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2824

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity