SNP Links for Gene (Select 81570) - SNP

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Select item 14914867121.

rs1491486712 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:72371536 (GRCh38)
11:72082580 (GRCh37)
Canonical SPDI:: NC_000011.10:72371532:AAAAA:AAA
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.72371536_72371537del, NC_000011.9:g.72082580_72082581del, NG_042130.2:g.68151_68152del

Select item 14913849352.

rs1491384935 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:72331592 (GRCh38)
11:72042636 (GRCh37)
Canonical SPDI:: NC_000011.10:72331591:TG:
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.001265/15 (ALFA)
-=0.000239/30 (GnomAD)
HGVS:: NC_000011.10:g.72331592_72331593del, NC_000011.9:g.72042636_72042637del, NG_042130.2:g.108092_108093del

Select item 14913843693.

rs1491384369 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 11:72376653 (GRCh38)
11:72087698 (GRCh37)
Canonical SPDI:: NC_000011.10:72376653:T:TAT
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.000045/12 (TOPMED)
TA=0.000126/4 (GnomAD)
HGVS:: NC_000011.10:g.72376654_72376655insAT, NC_000011.9:g.72087698_72087699insAT, NG_042130.2:g.63031_63032insTA

Select item 14913699684.

rs1491369968 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 11:72331592 (GRCh38)
11:72042637 (GRCh37)
Canonical SPDI:: NC_000011.10:72331592::TG
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TG=0./0 (ALFA)
TG=0.00004/3 (GnomAD)
HGVS:: NC_000011.10:g.72331592_72331593insTG, NC_000011.9:g.72042636_72042637insTG, NG_042130.2:g.108092_108093insCA

Select item 14912092605.

rs1491209260 has merged into rs35156663 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 11:72376660 (GRCh38)
11:72087704 (GRCh37)
Canonical SPDI:: NC_000011.10:72376652:TTTTTTTTT:TTTTTTT,NC_000011.10:72376652:TTTTTTTTT:TTTTTTTT,NC_000011.10:72376652:TTTTTTTTT:TTTTTTTTTT
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.225706/3782 (TOMMO)
T=0.28/168 (NorthernSweden)
T=0.303937/1127 (TWINSUK)
T=0.313181/1207 (ALSPAC)
T=0.325/13 (GENOME_DK)
T=0.326653/326 (GoNL)
T=0.437342/115760 (TOPMED)
HGVS:: NC_000011.10:g.72376660_72376661del, NC_000011.10:g.72376661del, NC_000011.10:g.72376661dup, NC_000011.9:g.72087704_72087705del, NC_000011.9:g.72087705del, NC_000011.9:g.72087705dup, NG_042130.2:g.63031_63032del, NG_042130.2:g.63032del, NG_042130.2:g.63032dup

Select item 14911600656.

rs1491160065 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:72373960 (GRCh38)
11:72085004 (GRCh37)
Canonical SPDI:: NC_000011.10:72373959:CA:
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00036/10 (TOMMO)
HGVS:: NC_000011.10:g.72373960_72373961del, NC_000011.9:g.72085004_72085005del, NG_042130.2:g.65724_65725del

Select item 14911323237.

rs1491132323 has merged into rs5792587 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAAATAAAATAAAATAAAATAAAATAAAATAAAA>-,TAAAA,TAAAATAAAA,TAAAATAAAATAAAA,TAAAATAAAATAAAATAAAA,TAAAATAAAATAAAATAAAATAAAA,TAAAATAAAATAAAATAAAATAAAATAAAA,TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA [Show Flanks]
Chromosome:: 11:72371558 (GRCh38)
11:72082602 (GRCh37)
Canonical SPDI:: NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA,NC_000011.10:72371533:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA:AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAATAAAATAAAATAAAATAAAATAAAA=0./0 (ALFA)
AAAATAAAATAAAATAAAAT=0./0 (GENOME_DK)
-=0.0293/113 (ALSPAC)
-=0.22/1102 (1000Genomes)
HGVS:: NC_000011.10:g.72371538TAAAA[4], NC_000011.10:g.72371538TAAAA[5], NC_000011.10:g.72371538TAAAA[6], NC_000011.10:g.72371538TAAAA[7], NC_000011.10:g.72371538TAAAA[8], NC_000011.10:g.72371538TAAAA[9], NC_000011.10:g.72371538TAAAA[10], NC_000011.10:g.72371538TAAAA[12], NC_000011.10:g.72371538TAAAA[13], NC_000011.10:g.72371538TAAAA[14], NC_000011.10:g.72371538TAAAA[15], NC_000011.10:g.72371538TAAAA[16], NC_000011.10:g.72371538TAAAA[17], NC_000011.10:g.72371538TAAAA[18], NC_000011.9:g.72082582TAAAA[4], NC_000011.9:g.72082582TAAAA[5], NC_000011.9:g.72082582TAAAA[6], NC_000011.9:g.72082582TAAAA[7], NC_000011.9:g.72082582TAAAA[8], NC_000011.9:g.72082582TAAAA[9], NC_000011.9:g.72082582TAAAA[10], NC_000011.9:g.72082582TAAAA[12], NC_000011.9:g.72082582TAAAA[13], NC_000011.9:g.72082582TAAAA[14], NC_000011.9:g.72082582TAAAA[15], NC_000011.9:g.72082582TAAAA[16], NC_000011.9:g.72082582TAAAA[17], NC_000011.9:g.72082582TAAAA[18], NG_042130.2:g.68097ATTTT[4], NG_042130.2:g.68097ATTTT[5], NG_042130.2:g.68097ATTTT[6], NG_042130.2:g.68097ATTTT[7], NG_042130.2:g.68097ATTTT[8], NG_042130.2:g.68097ATTTT[9], NG_042130.2:g.68097ATTTT[10], NG_042130.2:g.68097ATTTT[12], NG_042130.2:g.68097ATTTT[13], NG_042130.2:g.68097ATTTT[14], NG_042130.2:g.68097ATTTT[15], NG_042130.2:g.68097ATTTT[16], NG_042130.2:g.68097ATTTT[17], NG_042130.2:g.68097ATTTT[18]

Select item 14911141168.

rs1491114116 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:72408666 (GRCh38)
11:72119710 (GRCh37)
Canonical SPDI:: NC_000011.10:72408665:CA:
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00041/11 (TOMMO)
HGVS:: NC_000011.10:g.72408666_72408667del, NC_000011.9:g.72119710_72119711del, NG_042130.2:g.31018_31019del

Select item 14910491339.

rs1491049133 has merged into rs375776547 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:72356290 (GRCh38)
11:72067334 (GRCh37)
Canonical SPDI:: NC_000011.10:72356282:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000011.10:72356282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:72356282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:72356282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:72356282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:72356282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:72356282:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: CLPB (Varview), LOC112268077 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3778/1892 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000011.10:g.72356290_72356298del, NC_000011.10:g.72356296_72356298del, NC_000011.10:g.72356297_72356298del, NC_000011.10:g.72356298del, NC_000011.10:g.72356298dup, NC_000011.10:g.72356297_72356298dup, NC_000011.10:g.72356296_72356298dup, NC_000011.9:g.72067334_72067342del, NC_000011.9:g.72067340_72067342del, NC_000011.9:g.72067341_72067342del, NC_000011.9:g.72067342del, NC_000011.9:g.72067342dup, NC_000011.9:g.72067341_72067342dup, NC_000011.9:g.72067340_72067342dup, NG_042130.2:g.83394_83402del, NG_042130.2:g.83400_83402del, NG_042130.2:g.83401_83402del, NG_042130.2:g.83402del, NG_042130.2:g.83402dup, NG_042130.2:g.83401_83402dup, NG_042130.2:g.83400_83402dup, XR_002957257.2:n.1269_1277del, XR_002957257.2:n.1275_1277del, XR_002957257.2:n.1276_1277del, XR_002957257.2:n.1277del, XR_002957257.2:n.1277dup, XR_002957257.2:n.1276_1277dup, XR_002957257.2:n.1275_1277dup

Select item 149099202710.

rs1490992027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:72323697 (GRCh38)
11:72034741 (GRCh37)
Canonical SPDI:: NC_000011.10:72323696:T:C
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.72323697T>C, NC_000011.9:g.72034741T>C, NG_042130.2:g.115988A>G

Select item 149097118511.

rs1490971185 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:72403439 (GRCh38)
11:72114483 (GRCh37)
Canonical SPDI:: NC_000011.10:72403438:T:
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72403439del, NC_000011.9:g.72114483del, NG_042130.2:g.36246del

Select item 149096018312.

rs1490960183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72404543 (GRCh38)
11:72115587 (GRCh37)
Canonical SPDI:: NC_000011.10:72404542:C:T
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.72404543C>T, NC_000011.9:g.72115587C>T, NG_042130.2:g.35142G>A

Select item 149094695113.

rs1490946951 [Homo sapiens]

Variant type:: DEL
Alleles:: AATT>- [Show Flanks]
Chromosome:: 11:72433590 (GRCh38)
11:72144634 (GRCh37)
Canonical SPDI:: NC_000011.10:72433589:AATT:
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000121/16 (GnomAD)
HGVS:: NC_000011.10:g.72433590_72433593del, NC_000011.9:g.72144634_72144637del, NG_042130.2:g.6092_6095del

Select item 149094020214.

rs1490940202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:72306136 (GRCh38)
11:72017180 (GRCh37)
Canonical SPDI:: NC_000011.10:72306135:C:T
Gene:: CLPB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000011.10:g.72306136C>T, NC_000011.9:g.72017180C>T, NG_042130.2:g.133549G>A

Select item 149091832015.

rs1490918320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:72356829 (GRCh38)
11:72067873 (GRCh37)
Canonical SPDI:: NC_000011.10:72356828:T:C
Gene:: CLPB (Varview), LOC112268077 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000011.10:g.72356829T>C, NC_000011.9:g.72067873T>C, NG_042130.2:g.82856A>G, XR_002957257.2:n.1808T>C

Select item 149090491816.

rs1490904918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:72368883 (GRCh38)
11:72079927 (GRCh37)
Canonical SPDI:: NC_000011.10:72368882:T:A,NC_000011.10:72368882:T:G
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.72368883T>A, NC_000011.10:g.72368883T>G, NC_000011.9:g.72079927T>A, NC_000011.9:g.72079927T>G, NG_042130.2:g.70802A>T, NG_042130.2:g.70802A>C

Select item 149088769717.

rs1490887697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:72352474 (GRCh38)
11:72063518 (GRCh37)
Canonical SPDI:: NC_000011.10:72352473:G:A
Gene:: CLPB (Varview), LOC112268077 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000011.10:g.72352474G>A, NC_000011.9:g.72063518G>A, NG_042130.2:g.87211C>T

Select item 149087588418.

rs1490875884 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:72386617 (GRCh38)
11:72097661 (GRCh37)
Canonical SPDI:: NC_000011.10:72386616:T:A
Gene:: CLPB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.72386617T>A, NC_000011.9:g.72097661T>A, NG_042130.2:g.53068A>T

Select item 149086082519.

rs1490860825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:72385651 (GRCh38)
11:72096695 (GRCh37)
Canonical SPDI:: NC_000011.10:72385650:T:C
Gene:: CLPB (Varview)
Functional Consequence:: intron_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_000011.10:g.72385651T>C, NC_000011.9:g.72096695T>C, NG_042130.2:g.54034A>G

Select item 149083755620.

rs1490837556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:72296567 (GRCh38)
11:72007611 (GRCh37)
Canonical SPDI:: NC_000011.10:72296566:A:T
Gene:: CLPB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.72296567A>T, NC_000011.9:g.72007611A>T, NG_042130.2:g.143118T>A

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