SNP Links for Gene (Select 399697) - SNP

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Select item 14912717091.

rs1491271709 has merged into rs5812437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:48197026 (GRCh38)
15:48489223 (GRCh37)
Canonical SPDI:: NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:48197014:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CTXN2 (Varview), CTXN2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0.0003/1 (TWINSUK)
-=0.3936/1971 (1000Genomes)
HGVS:: NC_000015.10:g.48197026_48197028del, NC_000015.10:g.48197027_48197028del, NC_000015.10:g.48197028del, NC_000015.10:g.48197028dup, NC_000015.10:g.48197027_48197028dup, NC_000015.10:g.48197026_48197028dup, NC_000015.10:g.48197020_48197028dup, NC_000015.10:g.48197015_48197028dup, NC_000015.9:g.48489223_48489225del, NC_000015.9:g.48489224_48489225del, NC_000015.9:g.48489225del, NC_000015.9:g.48489225dup, NC_000015.9:g.48489224_48489225dup, NC_000015.9:g.48489223_48489225dup, NC_000015.9:g.48489217_48489225dup, NC_000015.9:g.48489212_48489225dup

Select item 14912520052.

rs1491252005 [Homo sapiens]

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

Select item 14909570073.

rs1490957007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48198431 (GRCh38)
15:48490628 (GRCh37)
Canonical SPDI:: NC_000015.10:48198430:G:A
Gene:: CTXN2 (Varview), CTXN2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.48198431G>A, NC_000015.9:g.48490628G>A

Select item 14909210624.

rs1490921062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:48178041 (GRCh38)
15:48470238 (GRCh37)
Canonical SPDI:: NC_000015.10:48178040:C:A,NC_000015.10:48178040:C:T
Gene:: MYEF2 (Varview), CTXN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.48178041C>A, NC_000015.10:g.48178041C>T, NC_000015.9:g.48470238C>A, NC_000015.9:g.48470238C>T

Select item 14908333655.

rs1490833365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48189645 (GRCh38)
15:48481842 (GRCh37)
Canonical SPDI:: NC_000015.10:48189644:G:A
Gene:: CTXN2 (Varview), CTXN2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48189645G>A, NC_000015.9:g.48481842G>A

Select item 14907767606.

rs1490776760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48197430 (GRCh38)
15:48489627 (GRCh37)
Canonical SPDI:: NC_000015.10:48197429:G:A
Gene:: CTXN2 (Varview), CTXN2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.48197430G>A, NC_000015.9:g.48489627G>A

Select item 14905717477.

rs1490571747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:48180615 (GRCh38)
15:48472812 (GRCh37)
Canonical SPDI:: NC_000015.10:48180614:C:G
Gene:: CTXN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.48180615C>G, NC_000015.9:g.48472812C>G

Select item 14905644618.

rs1490564461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:48197700 (GRCh38)
15:48489897 (GRCh37)
Canonical SPDI:: NC_000015.10:48197699:A:G
Gene:: CTXN2 (Varview), CTXN2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.48197700A>G, NC_000015.9:g.48489897A>G

Select item 14905193319.

rs1490519331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:48178154 (GRCh38)
15:48470351 (GRCh37)
Canonical SPDI:: NC_000015.10:48178153:C:A,NC_000015.10:48178153:C:T
Gene:: MYEF2 (Varview), CTXN2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.48178154C>A, NC_000015.10:g.48178154C>T, NC_000015.9:g.48470351C>A, NC_000015.9:g.48470351C>T, NM_016132.5:c.84G>T, NM_016132.5:c.84G>A, NM_016132.4:c.84G>T, NM_016132.4:c.84G>A, NM_016132.3:c.84G>T, NM_016132.3:c.84G>A, XM_005254422.5:c.84G>T, XM_005254422.5:c.84G>A, XM_005254422.4:c.84G>T, XM_005254422.4:c.84G>A, XM_005254422.3:c.84G>T, XM_005254422.3:c.84G>A, XM_005254422.2:c.84G>T, XM_005254422.2:c.84G>A, XM_005254422.1:c.84G>T, XM_005254422.1:c.84G>A, XM_005254425.5:c.84G>T, XM_005254425.5:c.84G>A, XM_005254425.4:c.84G>T, XM_005254425.4:c.84G>A, XM_005254425.3:c.84G>T, XM_005254425.3:c.84G>A, XM_005254425.2:c.84G>T, XM_005254425.2:c.84G>A, XM_005254425.1:c.84G>T, XM_005254425.1:c.84G>A, XM_005254424.5:c.84G>T, XM_005254424.5:c.84G>A, XM_005254424.4:c.84G>T, XM_005254424.4:c.84G>A, XM_005254424.3:c.84G>T, XM_005254424.3:c.84G>A, XM_005254424.2:c.84G>T, XM_005254424.2:c.84G>A, XM_005254424.1:c.84G>T, XM_005254424.1:c.84G>A, XM_005254427.5:c.84G>T, XM_005254427.5:c.84G>A, XM_005254427.4:c.84G>T, XM_005254427.4:c.84G>A, XM_005254427.3:c.84G>T, XM_005254427.3:c.84G>A, XM_005254427.2:c.84G>T, XM_005254427.2:c.84G>A, XM_005254427.1:c.84G>T, XM_005254427.1:c.84G>A, NM_001301210.2:c.84G>T, NM_001301210.2:c.84G>A, NM_001301210.1:c.84G>T, NM_001301210.1:c.84G>A, XM_017022285.2:c.84G>T, XM_017022285.2:c.84G>A, XM_017022285.1:c.84G>T, XM_017022285.1:c.84G>A, XM_017022286.2:c.84G>T, XM_017022286.2:c.84G>A, XM_017022286.1:c.84G>T, XM_017022286.1:c.84G>A, XM_017022287.2:c.84G>T, XM_017022287.2:c.84G>A, XM_017022287.1:c.84G>T, XM_017022287.1:c.84G>A, NR_125408.2:n.142G>T, NR_125408.2:n.142G>A, NR_125408.1:n.208G>T, NR_125408.1:n.208G>A, NP_057216.3:p.Glu28Asp, XP_005254479.2:p.Glu28Asp, XP_005254482.2:p.Glu28Asp, XP_005254481.2:p.Glu28Asp, XP_005254484.1:p.Glu28Asp, NP_001288139.2:p.Glu28Asp, XP_016877774.1:p.Glu28Asp, XP_016877775.1:p.Glu28Asp, XP_016877776.1:p.Glu28Asp

Select item 149051684010.

rs1490516840 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:48182731 (GRCh38)
15:48474928 (GRCh37)
Canonical SPDI:: NC_000015.10:48182730:A:G
Gene:: CTXN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000015.10:g.48182731A>G, NC_000015.9:g.48474928A>G

Select item 149013700111.

rs1490137001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48197834 (GRCh38)
15:48490031 (GRCh37)
Canonical SPDI:: NC_000015.10:48197833:G:A
Gene:: CTXN2 (Varview), CTXN2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.48197834G>A, NC_000015.9:g.48490031G>A

Select item 149005521012.

rs1490055210 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:48180927 (GRCh38)
15:48473124 (GRCh37)
Canonical SPDI:: NC_000015.10:48180926:T:C
Gene:: CTXN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48180927T>C, NC_000015.9:g.48473124T>C

Select item 148984532613.

rs1489845326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:48179056 (GRCh38)
15:48471253 (GRCh37)
Canonical SPDI:: NC_000015.10:48179055:A:G
Gene:: MYEF2 (Varview), CTXN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48179056A>G, NC_000015.9:g.48471253A>G

Select item 148971171814.

rs1489711718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48180020 (GRCh38)
15:48472217 (GRCh37)
Canonical SPDI:: NC_000015.10:48180019:G:A
Gene:: MYEF2 (Varview), CTXN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48180020G>A, NC_000015.9:g.48472217G>A

Select item 148969545315.

rs1489695453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:48202826 (GRCh38)
15:48495023 (GRCh37)
Canonical SPDI:: NC_000015.10:48202825:T:G
Gene:: CTXN2 (Varview), CTXN2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.48202826T>G, NC_000015.9:g.48495023T>G, NG_021301.1:g.1526T>G, XM_006720504.3:c.*1280T>G, XM_017022178.2:c.*1280T>G, NM_001145668.2:c.*1280T>G, NM_001145668.1:c.*1280T>G, XM_047432494.1:c.*1280T>G, NM_001370416.1:c.*1280T>G, NM_001370415.1:c.*1280T>G

Select item 148969530916.

rs1489695309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:48197155 (GRCh38)
15:48489352 (GRCh37)
Canonical SPDI:: NC_000015.10:48197154:A:G
Gene:: CTXN2 (Varview), CTXN2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48197155A>G, NC_000015.9:g.48489352A>G

Select item 148960043917.

rs1489600439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:48180108 (GRCh38)
15:48472305 (GRCh37)
Canonical SPDI:: NC_000015.10:48180107:T:C
Gene:: MYEF2 (Varview), CTXN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48180108T>C, NC_000015.9:g.48472305T>C

Select item 148907145818.

rs1489071458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:48196092 (GRCh38)
15:48488289 (GRCh37)
Canonical SPDI:: NC_000015.10:48196091:C:T
Gene:: CTXN2 (Varview), CTXN2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.48196092C>T, NC_000015.9:g.48488289C>T

Select item 148890582419.

rs1488905824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:48181717 (GRCh38)
15:48473914 (GRCh37)
Canonical SPDI:: NC_000015.10:48181716:A:C
Gene:: CTXN2 (Varview)
Functional Consequence:: intron_variant,genic_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_000015.10:g.48181717A>C, NC_000015.9:g.48473914A>C

Select item 148888752520.

rs1488887525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:48196523 (GRCh38)
15:48488720 (GRCh37)
Canonical SPDI:: NC_000015.10:48196522:C:T
Gene:: CTXN2 (Varview), CTXN2-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.48196523C>T, NC_000015.9:g.48488720C>T

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