SNP Links for Gene (Select 83446) - SNP

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Select item 14914820961.

rs1491482096 has merged into rs1355813222 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT [Show Flanks]
Chromosome:: 13:51860845 (GRCh38)
13:52434981 (GRCh37)
Canonical SPDI:: NC_000013.11:51860839:TATATATAT:TATAT,NC_000013.11:51860839:TATATATAT:TATATAT
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAT=0.006158/100 (ALFA)
-=0.002053/34 (TOMMO)
-=0.005621/36 (1000Genomes)
-=0.005913/793 (GnomAD)
-=0.008333/5 (NorthernSweden)
-=0.014293/53 (TWINSUK)
-=0.015049/58 (ALSPAC)
HGVS:: NC_000013.11:g.51860841AT[2], NC_000013.11:g.51860841AT[3], NC_000013.10:g.52434977AT[2], NC_000013.10:g.52434977AT[3]

Select item 14914598322.

rs1491459832 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:51860638 (GRCh38)
13:52434774 (GRCh37)
Canonical SPDI:: NC_000013.11:51860637:CA:
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000013.11:g.51860638_51860639del, NC_000013.10:g.52434774_52434775del

Select item 14909621173.

rs1490962117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:51865888 (GRCh38)
13:52440024 (GRCh37)
Canonical SPDI:: NC_000013.11:51865887:C:T
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.51865888C>T, NC_000013.10:g.52440024C>T, NM_031290.4:c.477C>T, NM_031290.3:c.510C>T, NM_031290.2:c.510C>T, NM_001346075.2:c.477C>T, NM_001346075.1:c.510C>T

Select item 14904069844.

rs1490406984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:51862441 (GRCh38)
13:52436577 (GRCh37)
Canonical SPDI:: NC_000013.11:51862440:T:A
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.51862441T>A, NC_000013.10:g.52436577T>A

Select item 14891077115.

rs1489107711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:51861435 (GRCh38)
13:52435571 (GRCh37)
Canonical SPDI:: NC_000013.11:51861434:G:A
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000106/28 (TOPMED)
A=0.0002/28 (GnomAD)
HGVS:: NC_000013.11:g.51861435G>A, NC_000013.10:g.52435571G>A

Select item 14890570506.

rs1489057050 has merged into rs562901537 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:51860648 (GRCh38)
13:52434784 (GRCh37)
Canonical SPDI:: NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:51860638:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.4579/2293 (1000Genomes)
HGVS:: NC_000013.11:g.51860648_51860655del, NC_000013.11:g.51860650_51860655del, NC_000013.11:g.51860652_51860655del, NC_000013.11:g.51860653_51860655del, NC_000013.11:g.51860654_51860655del, NC_000013.11:g.51860655del, NC_000013.11:g.51860655dup, NC_000013.11:g.51860654_51860655dup, NC_000013.11:g.51860653_51860655dup, NC_000013.11:g.51860652_51860655dup, NC_000013.11:g.51860651_51860655dup, NC_000013.11:g.51860646_51860655dup, NC_000013.10:g.52434784_52434791del, NC_000013.10:g.52434786_52434791del, NC_000013.10:g.52434788_52434791del, NC_000013.10:g.52434789_52434791del, NC_000013.10:g.52434790_52434791del, NC_000013.10:g.52434791del, NC_000013.10:g.52434791dup, NC_000013.10:g.52434790_52434791dup, NC_000013.10:g.52434789_52434791dup, NC_000013.10:g.52434788_52434791dup, NC_000013.10:g.52434787_52434791dup, NC_000013.10:g.52434782_52434791dup

Select item 14878049367.

rs1487804936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:51865893 (GRCh38)
13:52440029 (GRCh37)
Canonical SPDI:: NC_000013.11:51865892:A:G
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.51865893A>G, NC_000013.10:g.52440029A>G, NM_031290.4:c.482A>G, NM_031290.3:c.515A>G, NM_031290.2:c.515A>G, NM_001346075.2:c.482A>G, NM_001346075.1:c.515A>G, NP_112580.3:p.Glu161Gly, NP_001333004.2:p.Glu161Gly

Select item 14871616708.

rs1487161670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:51866310 (GRCh38)
13:52440446 (GRCh37)
Canonical SPDI:: NC_000013.11:51866309:G:C
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000013.11:g.51866310G>C, NC_000013.10:g.52440446G>C

Select item 14867674729.

rs1486767472 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:51865700 (GRCh38)
13:52439836 (GRCh37)
Canonical SPDI:: NC_000013.11:51865699:T:C
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.51865700T>C, NC_000013.10:g.52439836T>C, NM_031290.4:c.289T>C, NM_031290.3:c.322T>C, NM_031290.2:c.322T>C, NM_001346075.2:c.289T>C, NM_001346075.1:c.322T>C, NP_112580.3:p.Trp97Arg, NP_001333004.2:p.Trp97Arg

Select item 148647059310.

rs1486470593 has merged into rs1177788070 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACA>-,GACAGACA,GACAGACAGACA [Show Flanks]
Chromosome:: 13:51863672 (GRCh38)
13:52437808 (GRCh37)
Canonical SPDI:: NC_000013.11:51863668:ACAGACA:ACA,NC_000013.11:51863668:ACAGACA:ACAGACAGACA,NC_000013.11:51863668:ACAGACA:ACAGACAGACAGACA
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACAGACAGACA=0./0 (ALFA)
HGVS:: NC_000013.11:g.51863672_51863675del, NC_000013.11:g.51863672_51863675dup, NC_000013.11:g.51863672GACA[3], NC_000013.10:g.52437808_52437811del, NC_000013.10:g.52437808_52437811dup, NC_000013.10:g.52437808GACA[3]

Select item 148549172411.

rs1485491724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:51862471 (GRCh38)
13:52436607 (GRCh37)
Canonical SPDI:: NC_000013.11:51862470:T:C
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.00003/8 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000013.11:g.51862471T>C, NC_000013.10:g.52436607T>C

Select item 148536264212.

rs1485362642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:51860175 (GRCh38)
13:52434311 (GRCh37)
Canonical SPDI:: NC_000013.11:51860174:T:G
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.51860175T>G, NC_000013.10:g.52434311T>G

Select item 148516043913.

rs1485160439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:51864481 (GRCh38)
13:52438617 (GRCh37)
Canonical SPDI:: NC_000013.11:51864480:G:A
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.51864481G>A, NC_000013.10:g.52438617G>A

Select item 148464226714.

rs1484642267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:51865834 (GRCh38)
13:52439970 (GRCh37)
Canonical SPDI:: NC_000013.11:51865833:G:A
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.51865834G>A, NC_000013.10:g.52439970G>A, NM_031290.4:c.423G>A, NM_031290.3:c.456G>A, NM_031290.2:c.456G>A, NM_001346075.2:c.423G>A, NM_001346075.1:c.456G>A

Select item 148448006415.

rs1484480064 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAATT [Show Flanks]
Chromosome:: 13:51861462 (GRCh38)
13:52435599 (GRCh37)
Canonical SPDI:: NC_000013.11:51861462:AATT:AATTTAATT
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATTTAATT=0.000071/1 (ALFA)
AATTT=0.000014/2 (GnomAD)
AATTT=0.000023/6 (TOPMED)
HGVS:: NC_000013.11:g.51861466_51861467insTAATT, NC_000013.10:g.52435602_52435603insTAATT

Select item 148419768416.

rs1484197684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:51866412 (GRCh38)
13:52440548 (GRCh37)
Canonical SPDI:: NC_000013.11:51866411:C:T
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: 500B_downstream_variant,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)
HGVS:: NC_000013.11:g.51866412C>T, NC_000013.10:g.52440548C>T

Select item 148223619417.

rs1482236194 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTCATTGGAT>- [Show Flanks]
Chromosome:: 13:51864606 (GRCh38)
13:52438742 (GRCh37)
Canonical SPDI:: NC_000013.11:51864601:GGATGGTCATTGGAT:GGAT
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.51864606_51864616del, NC_000013.10:g.52438742_52438752del

Select item 148081163618.

rs1480811636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:51866507 (GRCh38)
13:52440643 (GRCh37)
Canonical SPDI:: NC_000013.11:51866506:G:A
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.51866507G>A, NC_000013.10:g.52440643G>A

Select item 148054972419.

rs1480549724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:51863577 (GRCh38)
13:52437713 (GRCh37)
Canonical SPDI:: NC_000013.11:51863576:T:A
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51863577T>A, NC_000013.10:g.52437713T>A

Select item 148049966420.

rs1480499664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:51862567 (GRCh38)
13:52436703 (GRCh37)
Canonical SPDI:: NC_000013.11:51862566:C:T
Gene:: CCDC70 (Varview), TMEM272 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.51862567C>T, NC_000013.10:g.52436703C>T

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