SNP Links for Gene (Select 121274) - SNP

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Select item 14914066661.

rs1491406666 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:48340006 (GRCh38)
12:48733790 (GRCh37)
Canonical SPDI:: NC_000012.12:48340006:G:GG
Gene:: ZNF641 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.48340007dup, NC_000012.11:g.48733790dup, XM_005268638.5:c.*2966dup, XM_005268638.4:c.*2966dup, XM_005268638.3:c.*2966dup, XM_005268637.4:c.*2966dup, XM_005268637.3:c.*2966dup, NM_152320.3:c.*2966dup, XM_011537898.3:c.*2966dup, XM_011537898.2:c.*2966dup, XM_011537898.1:c.*2966dup, NM_001172681.2:c.*2966dup, NM_001172682.2:c.*2966dup, NM_001365803.1:c.*2966dup, NM_001365805.1:c.*2966dup, XM_047428287.1:c.*2966dup

Select item 14911476282.

rs1491147628 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:48340007 (GRCh38)
12:48733790 (GRCh37)
Canonical SPDI:: NC_000012.12:48340005:TGT:T
Gene:: ZNF641 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.48340007_48340008del, NC_000012.11:g.48733790_48733791del, XM_005268638.5:c.*2966_*2967del, XM_005268638.4:c.*2966_*2967del, XM_005268638.3:c.*2966_*2967del, XM_005268637.4:c.*2966_*2967del, XM_005268637.3:c.*2966_*2967del, NM_152320.3:c.*2966_*2967del, NM_152320.2:c.*2965_*2966insCA, XM_011537898.3:c.*2966_*2967del, XM_011537898.2:c.*2966_*2967del, XM_011537898.1:c.*2966_*2967del, NM_001172681.2:c.*2966_*2967del, NM_001172681.1:c.*2965_*2966insCA, NM_001172682.2:c.*2966_*2967del, NM_001172682.1:c.*2965_*2966insCA, NM_001365803.1:c.*2966_*2967del, NM_001365805.1:c.*2966_*2967del, XM_047428287.1:c.*2966_*2967del

Select item 14910910383.

rs1491091038 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:48353135 (GRCh38)
12:48746918 (GRCh37)
Canonical SPDI:: NC_000012.12:48353134:CA:
Gene:: ZNF641 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.48353135_48353136del, NC_000012.11:g.48746918_48746919del

Select item 14908141984.

rs1490814198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48345040 (GRCh38)
12:48738823 (GRCh37)
Canonical SPDI:: NC_000012.12:48345039:C:T
Gene:: ZNF641 (Varview)
Functional Consequence:: 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_000012.12:g.48345040C>T, NC_000012.11:g.48738823C>T

Select item 14900715505.

rs1490071550 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48349503 (GRCh38)
12:48743286 (GRCh37)
Canonical SPDI:: NC_000012.12:48349502:T:C
Gene:: ZNF641 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48349503T>C, NC_000012.11:g.48743286T>C

Select item 14899785686.

rs1489978568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48341175 (GRCh38)
12:48734958 (GRCh37)
Canonical SPDI:: NC_000012.12:48341174:C:T
Gene:: ZNF641 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000012.12:g.48341175C>T, NC_000012.11:g.48734958C>T, XM_005268638.5:c.*1798G>A, XM_005268638.4:c.*1798G>A, XM_005268638.3:c.*1798G>A, XM_005268638.2:c.*1798G>A, XM_005268638.1:c.*1798G>A, XM_005268637.4:c.*1798G>A, XM_005268637.3:c.*1798G>A, XM_005268637.2:c.*1798G>A, XM_005268637.1:c.*1798G>A, NM_152320.3:c.*1798G>A, NM_152320.2:c.*1798G>A, XM_011537898.3:c.*1798G>A, XM_011537898.2:c.*1798G>A, XM_011537898.1:c.*1798G>A, NM_001172681.2:c.*1798G>A, NM_001172681.1:c.*1798G>A, NM_001172682.2:c.*1798G>A, NM_001172682.1:c.*1798G>A, NM_001365803.1:c.*1798G>A, NM_001365805.1:c.*1798G>A, XM_047428287.1:c.*1798G>A

Select item 14895099407.

rs1489509940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:48338902 (GRCh38)
12:48732685 (GRCh37)
Canonical SPDI:: NC_000012.12:48338901:G:C
Gene:: ZNF641 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000012.12:g.48338902G>C, NC_000012.11:g.48732685G>C, XM_005268638.5:c.*4071C>G, XM_005268638.4:c.*4071C>G, XM_005268638.3:c.*4071C>G, XM_005268637.4:c.*4071C>G, XM_005268637.3:c.*4071C>G, NM_152320.3:c.*4071C>G, XM_011537898.3:c.*4071C>G, XM_011537898.2:c.*4071C>G, XM_011537898.1:c.*4071C>G, NM_001172681.2:c.*4071C>G, NM_001172682.2:c.*4071C>G, NM_001365803.1:c.*4071C>G, NM_001365805.1:c.*4071C>G, XM_047428287.1:c.*4071C>G

Select item 14894282338.

rs1489428233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48345424 (GRCh38)
12:48739207 (GRCh37)
Canonical SPDI:: NC_000012.12:48345423:C:T
Gene:: ZNF641 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48345424C>T, NC_000012.11:g.48739207C>T, XM_005268640.6:c.369G>A, XM_005268640.5:c.369G>A, XM_005268640.4:c.369G>A, XM_005268640.3:c.369G>A, XM_005268640.2:c.369G>A, XM_005268640.1:c.369G>A, XM_005268638.5:c.327G>A, XM_005268638.4:c.327G>A, XM_005268638.3:c.327G>A, XM_005268638.2:c.327G>A, XM_005268638.1:c.327G>A, NM_152320.3:c.369G>A, NM_152320.2:c.369G>A, XM_011537898.3:c.327G>A, XM_011537898.2:c.327G>A, XM_011537898.1:c.327G>A, NM_001172681.2:c.327G>A, NM_001172681.1:c.327G>A, XM_047428287.1:c.54G>A, NM_001365804.1:c.327G>A, XP_005268697.1:p.Trp123Ter, XP_005268695.1:p.Trp109Ter, NP_689533.2:p.Trp123Ter, XP_011536200.1:p.Trp109Ter, NP_001166152.1:p.Trp109Ter, XP_047284243.1:p.Trp18Ter, NP_001352733.1:p.Trp109Ter

Select item 14892710749.

rs1489271074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48346222 (GRCh38)
12:48740005 (GRCh37)
Canonical SPDI:: NC_000012.12:48346221:G:A
Gene:: ZNF641 (Varview)
Functional Consequence:: 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_000012.12:g.48346222G>A, NC_000012.11:g.48740005G>A

Select item 148914275010.

rs1489142750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48342040 (GRCh38)
12:48735823 (GRCh37)
Canonical SPDI:: NC_000012.12:48342039:A:G
Gene:: ZNF641 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.48342040A>G, NC_000012.11:g.48735823A>G, XM_005268638.5:c.*933T>C, XM_005268638.4:c.*933T>C, XM_005268638.3:c.*933T>C, XM_005268638.2:c.*933T>C, XM_005268638.1:c.*933T>C, XM_005268637.4:c.*933T>C, XM_005268637.3:c.*933T>C, XM_005268637.2:c.*933T>C, XM_005268637.1:c.*933T>C, NM_152320.3:c.*933T>C, NM_152320.2:c.*933T>C, XM_011537898.3:c.*933T>C, XM_011537898.2:c.*933T>C, XM_011537898.1:c.*933T>C, NM_001172681.2:c.*933T>C, NM_001172681.1:c.*933T>C, NM_001172682.2:c.*933T>C, NM_001172682.1:c.*933T>C, NM_001365803.1:c.*933T>C, NM_001365805.1:c.*933T>C, XM_047428287.1:c.*933T>C

Select item 148902585511.

rs1489025855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:48345534 (GRCh38)
12:48739317 (GRCh37)
Canonical SPDI:: NC_000012.12:48345533:T:A
Gene:: ZNF641 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.48345534T>A, NC_000012.11:g.48739317T>A

Select item 148896993112.

rs1488969931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:48347446 (GRCh38)
12:48741229 (GRCh37)
Canonical SPDI:: NC_000012.12:48347445:C:G
Gene:: ZNF641 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48347446C>G, NC_000012.11:g.48741229C>G

Select item 148894255313.

rs1488942553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:48334551 (GRCh38)
12:48728334 (GRCh37)
Canonical SPDI:: NC_000012.12:48334550:C:A
Gene:: ZNF641 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/1 (GnomAD)
HGVS:: NC_000012.12:g.48334551C>A, NC_000012.11:g.48728334C>A

Select item 148893188314.

rs1488931883 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAG>- [Show Flanks]
Chromosome:: 12:48350284 (GRCh38)
12:48744067 (GRCh37)
Canonical SPDI:: NC_000012.12:48350281:AGTAG:AG
Gene:: ZNF641 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48350284_48350286del, NC_000012.11:g.48744067_48744069del, XM_005268638.5:c.-191_-189del, XM_005268638.4:c.-191_-189del, XM_005268638.3:c.-191_-189del, XM_005268638.2:c.-191_-189del

Select item 148806548215.

rs1488065482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48347927 (GRCh38)
12:48741710 (GRCh37)
Canonical SPDI:: NC_000012.12:48347926:G:A
Gene:: ZNF641 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_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_000012.12:g.48347927G>A, NC_000012.11:g.48741710G>A, XM_005268640.6:c.206C>T, XM_005268640.5:c.206C>T, XM_005268640.4:c.206C>T, XM_005268640.3:c.206C>T, XM_005268640.2:c.206C>T, XM_005268640.1:c.206C>T, XM_005268638.5:c.164C>T, XM_005268638.4:c.164C>T, XM_005268638.3:c.164C>T, XM_005268638.2:c.164C>T, XM_005268638.1:c.164C>T, XM_005268637.4:c.206C>T, XM_005268637.3:c.206C>T, XM_005268637.2:c.206C>T, XM_005268637.1:c.206C>T, NM_152320.3:c.206C>T, NM_152320.2:c.206C>T, XM_011537898.3:c.164C>T, XM_011537898.2:c.164C>T, XM_011537898.1:c.164C>T, NM_001172681.2:c.164C>T, NM_001172681.1:c.164C>T, NM_001172682.2:c.164C>T, NM_001172682.1:c.164C>T, NM_001365803.1:c.164C>T, NM_001365805.1:c.-136C>T, NM_001365804.1:c.164C>T, XP_005268697.1:p.Pro69Leu, XP_005268695.1:p.Pro55Leu, XP_005268694.1:p.Pro69Leu, NP_689533.2:p.Pro69Leu, XP_011536200.1:p.Pro55Leu, NP_001166152.1:p.Pro55Leu, NP_001166153.1:p.Pro55Leu, NP_001352732.1:p.Pro55Leu, NP_001352733.1:p.Pro55Leu

Select item 148783496116.

rs1487834961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:48337754 (GRCh38)
12:48731537 (GRCh37)
Canonical SPDI:: NC_000012.12:48337753:G:C,NC_000012.12:48337753:G:T
Gene:: ZNF641 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.48337754G>C, NC_000012.12:g.48337754G>T, NC_000012.11:g.48731537G>C, NC_000012.11:g.48731537G>T, XM_005268638.5:c.*5219C>G, XM_005268638.5:c.*5219C>A, XM_005268638.4:c.*5219C>G, XM_005268638.4:c.*5219C>A, XM_005268638.3:c.*5219C>G, XM_005268638.3:c.*5219C>A, XM_005268637.4:c.*5219C>G, XM_005268637.4:c.*5219C>A, XM_005268637.3:c.*5219C>G, XM_005268637.3:c.*5219C>A, NM_152320.3:c.*5219C>G, NM_152320.3:c.*5219C>A, XM_011537898.3:c.*5219C>G, XM_011537898.3:c.*5219C>A, XM_011537898.2:c.*5219C>G, XM_011537898.2:c.*5219C>A, XM_011537898.1:c.*5219C>G, XM_011537898.1:c.*5219C>A, NM_001172681.2:c.*5219C>G, NM_001172681.2:c.*5219C>A, NM_001172682.2:c.*5219C>G, NM_001172682.2:c.*5219C>A, NM_001365803.1:c.*5219C>G, NM_001365803.1:c.*5219C>A, NM_001365805.1:c.*5219C>G, NM_001365805.1:c.*5219C>A, XM_047428287.1:c.*5219C>G, XM_047428287.1:c.*5219C>A

Select item 148781020817.

rs1487810208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48352241 (GRCh38)
12:48746024 (GRCh37)
Canonical SPDI:: NC_000012.12:48352240:G:A
Gene:: ZNF641 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.48352241G>A, NC_000012.11:g.48746024G>A

Select item 148777299518.

rs1487772995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:48343910 (GRCh38)
12:48737693 (GRCh37)
Canonical SPDI:: NC_000012.12:48343909:T:G
Gene:: ZNF641 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.48343910T>G, NC_000012.11:g.48737693T>G

Select item 148776376419.

rs1487763764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:48335239 (GRCh38)
12:48729022 (GRCh37)
Canonical SPDI:: NC_000012.12:48335238:C:A,NC_000012.12:48335238:C:T
Gene:: ZNF641 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48335239C>A, NC_000012.12:g.48335239C>T, NC_000012.11:g.48729022C>A, NC_000012.11:g.48729022C>T, XM_005268640.6:c.*1833G>T, XM_005268640.6:c.*1833G>A, XM_005268640.5:c.*1833G>T, XM_005268640.5:c.*1833G>A, XM_005268640.4:c.*1833G>T, XM_005268640.4:c.*1833G>A, NM_001365804.1:c.*1833G>T, NM_001365804.1:c.*1833G>A

Select item 148761835820.

rs1487618358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:48339539 (GRCh38)
12:48733322 (GRCh37)
Canonical SPDI:: NC_000012.12:48339538:T:G
Gene:: ZNF641 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_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_000012.12:g.48339539T>G, NC_000012.11:g.48733322T>G, XM_005268638.5:c.*3434A>C, XM_005268638.4:c.*3434A>C, XM_005268638.3:c.*3434A>C, XM_005268637.4:c.*3434A>C, XM_005268637.3:c.*3434A>C, NM_152320.3:c.*3434A>C, XM_011537898.3:c.*3434A>C, XM_011537898.2:c.*3434A>C, XM_011537898.1:c.*3434A>C, NM_001172681.2:c.*3434A>C, NM_001172682.2:c.*3434A>C, NM_001365803.1:c.*3434A>C, NM_001365805.1:c.*3434A>C, XM_047428287.1:c.*3434A>C

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