SNP Links for Nucleotide (Select 1206271472) - SNP

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Select item 14914384461.

rs1491438446 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:125226723 (GRCh38)
3:124945567 (GRCh37)
Canonical SPDI:: NC_000003.12:125226720:ATAT:AT
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.125226721AT[1], NC_000003.11:g.124945565AT[1], NG_052987.1:g.153631AT[1], NM_021964.3:c.*5617AT[1], NM_021964.2:c.*5617AT[1], NM_001348432.2:c.*5617AT[1], NM_001348432.1:c.*5617AT[1], NM_001348425.2:c.*5617AT[1], NM_001348425.1:c.*5617AT[1], NM_001348429.2:c.*5617AT[1], NM_001348429.1:c.*5617AT[1], NM_001348427.2:c.*5617AT[1], NM_001348427.1:c.*5617AT[1], NM_001348433.2:c.*5617AT[1], NM_001348433.1:c.*5617AT[1], NM_001348428.2:c.*5617AT[1], NM_001348428.1:c.*5617AT[1], NM_001348430.2:c.*5617AT[1], NM_001348430.1:c.*5617AT[1], NM_001348431.2:c.*5617AT[1], NM_001348431.1:c.*5617AT[1], NM_001348434.2:c.*5617AT[1], NM_001348434.1:c.*5617AT[1], NM_001348426.2:c.*5617AT[1], NM_001348426.1:c.*5617AT[1], NM_001348424.1:c.*5617AT[1]

Select item 14910997212.

rs1491099721 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:125226721 (GRCh38)
3:124945566 (GRCh37)
Canonical SPDI:: NC_000003.12:125226721:T:TT
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000017/1 (GnomAD)
HGVS:: NC_000003.12:g.125226722dup, NC_000003.11:g.124945566dup, NG_052987.1:g.153633dup, NM_021964.3:c.*5619dup, NM_021964.2:c.*5619dup, NM_001348432.2:c.*5619dup, NM_001348432.1:c.*5619dup, NM_001348425.2:c.*5619dup, NM_001348425.1:c.*5619dup, NM_001348429.2:c.*5619dup, NM_001348429.1:c.*5619dup, NM_001348427.2:c.*5619dup, NM_001348427.1:c.*5619dup, NM_001348433.2:c.*5619dup, NM_001348433.1:c.*5619dup, NM_001348428.2:c.*5619dup, NM_001348428.1:c.*5619dup, NM_001348430.2:c.*5619dup, NM_001348430.1:c.*5619dup, NM_001348431.2:c.*5619dup, NM_001348431.1:c.*5619dup, NM_001348434.2:c.*5619dup, NM_001348434.1:c.*5619dup, NM_001348426.2:c.*5619dup, NM_001348426.1:c.*5619dup, NM_001348424.1:c.*5619dup

Select item 14909454183.

rs1490945418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:125232348 (GRCh38)
3:124951192 (GRCh37)
Canonical SPDI:: NC_000003.12:125232347:A:G
Gene:: ZNF148 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125232348A>G, NC_000003.11:g.124951192A>G, NG_052987.1:g.148007T>C, NM_021964.3:c.2378T>C, NM_021964.2:c.2378T>C, NM_001348432.2:c.2378T>C, NM_001348432.1:c.2378T>C, NM_001348425.2:c.2378T>C, NM_001348425.1:c.2378T>C, NM_001348429.2:c.2378T>C, NM_001348429.1:c.2378T>C, NM_001348427.2:c.2378T>C, NM_001348427.1:c.2378T>C, NM_001348433.2:c.2378T>C, NM_001348433.1:c.2378T>C, NM_001348428.2:c.2378T>C, NM_001348428.1:c.2378T>C, NM_001348430.2:c.2378T>C, NM_001348430.1:c.2378T>C, NM_001348431.2:c.2378T>C, NM_001348431.1:c.2378T>C, NM_001348434.2:c.2252T>C, NM_001348434.1:c.2252T>C, NM_001348426.2:c.2378T>C, NM_001348426.1:c.2378T>C, NM_001348424.1:c.2378T>C, NG_083118.1:g.484A>G, NP_068799.2:p.Phe793Ser, NP_001335361.1:p.Phe793Ser, NP_001335354.1:p.Phe793Ser, NP_001335358.1:p.Phe793Ser, NP_001335356.1:p.Phe793Ser, NP_001335362.1:p.Phe793Ser, NP_001335357.1:p.Phe793Ser, NP_001335359.1:p.Phe793Ser, NP_001335360.1:p.Phe793Ser, NP_001335363.1:p.Phe751Ser, NP_001335355.1:p.Phe793Ser, NP_001335353.1:p.Phe793Ser

Select item 14909372194.

rs1490937219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:125227398 (GRCh38)
3:124946242 (GRCh37)
Canonical SPDI:: NC_000003.12:125227397:C:A
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.125227398C>A, NC_000003.11:g.124946242C>A, NG_052987.1:g.152957G>T, NM_021964.3:c.*4943G>T, NM_021964.2:c.*4943G>T, NM_001348432.2:c.*4943G>T, NM_001348432.1:c.*4943G>T, NM_001348425.2:c.*4943G>T, NM_001348425.1:c.*4943G>T, NM_001348429.2:c.*4943G>T, NM_001348429.1:c.*4943G>T, NM_001348427.2:c.*4943G>T, NM_001348427.1:c.*4943G>T, NM_001348433.2:c.*4943G>T, NM_001348433.1:c.*4943G>T, NM_001348428.2:c.*4943G>T, NM_001348428.1:c.*4943G>T, NM_001348430.2:c.*4943G>T, NM_001348430.1:c.*4943G>T, NM_001348431.2:c.*4943G>T, NM_001348431.1:c.*4943G>T, NM_001348434.2:c.*4943G>T, NM_001348434.1:c.*4943G>T, NM_001348426.2:c.*4943G>T, NM_001348426.1:c.*4943G>T, NM_001348424.1:c.*4943G>T

Select item 14904473175.

rs1490447317 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:125228069 (GRCh38)
3:124946913 (GRCh37)
Canonical SPDI:: NC_000003.12:125228068:T:A,NC_000003.12:125228068:T:C
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.00007/1 (TOMMO)
HGVS:: NC_000003.12:g.125228069T>A, NC_000003.12:g.125228069T>C, NC_000003.11:g.124946913T>A, NC_000003.11:g.124946913T>C, NG_052987.1:g.152286A>T, NG_052987.1:g.152286A>G, NM_021964.3:c.*4272A>T, NM_021964.3:c.*4272A>G, NM_021964.2:c.*4272A>T, NM_021964.2:c.*4272A>G, NM_001348432.2:c.*4272A>T, NM_001348432.2:c.*4272A>G, NM_001348432.1:c.*4272A>T, NM_001348432.1:c.*4272A>G, NM_001348425.2:c.*4272A>T, NM_001348425.2:c.*4272A>G, NM_001348425.1:c.*4272A>T, NM_001348425.1:c.*4272A>G, NM_001348429.2:c.*4272A>T, NM_001348429.2:c.*4272A>G, NM_001348429.1:c.*4272A>T, NM_001348429.1:c.*4272A>G, NM_001348427.2:c.*4272A>T, NM_001348427.2:c.*4272A>G, NM_001348427.1:c.*4272A>T, NM_001348427.1:c.*4272A>G, NM_001348433.2:c.*4272A>T, NM_001348433.2:c.*4272A>G, NM_001348433.1:c.*4272A>T, NM_001348433.1:c.*4272A>G, NM_001348428.2:c.*4272A>T, NM_001348428.2:c.*4272A>G, NM_001348428.1:c.*4272A>T, NM_001348428.1:c.*4272A>G, NM_001348430.2:c.*4272A>T, NM_001348430.2:c.*4272A>G, NM_001348430.1:c.*4272A>T, NM_001348430.1:c.*4272A>G, NM_001348431.2:c.*4272A>T, NM_001348431.2:c.*4272A>G, NM_001348431.1:c.*4272A>T, NM_001348431.1:c.*4272A>G, NM_001348434.2:c.*4272A>T, NM_001348434.2:c.*4272A>G, NM_001348434.1:c.*4272A>T, NM_001348434.1:c.*4272A>G, NM_001348426.2:c.*4272A>T, NM_001348426.2:c.*4272A>G, NM_001348426.1:c.*4272A>T, NM_001348426.1:c.*4272A>G, NM_001348424.1:c.*4272A>T, NM_001348424.1:c.*4272A>G

Select item 14900120166.

rs1490012016 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:125229647 (GRCh38)
3:124948492 (GRCh37)
Canonical SPDI:: NC_000003.12:125229647:T:TT
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125229648dup, NC_000003.11:g.124948492dup, NG_052987.1:g.150707dup, NM_021964.3:c.*2693dup, NM_021964.2:c.*2693dup, NM_001348432.2:c.*2693dup, NM_001348432.1:c.*2693dup, NM_001348425.2:c.*2693dup, NM_001348425.1:c.*2693dup, NM_001348429.2:c.*2693dup, NM_001348429.1:c.*2693dup, NM_001348427.2:c.*2693dup, NM_001348427.1:c.*2693dup, NM_001348433.2:c.*2693dup, NM_001348433.1:c.*2693dup, NM_001348428.2:c.*2693dup, NM_001348428.1:c.*2693dup, NM_001348430.2:c.*2693dup, NM_001348430.1:c.*2693dup, NM_001348431.2:c.*2693dup, NM_001348431.1:c.*2693dup, NM_001348434.2:c.*2693dup, NM_001348434.1:c.*2693dup, NM_001348426.2:c.*2693dup, NM_001348426.1:c.*2693dup, NM_001348424.1:c.*2693dup

Select item 14899559077.

rs1489955907 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:125228589 (GRCh38)
3:124947433 (GRCh37)
Canonical SPDI:: NC_000003.12:125228587:TTT:T
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.125228589_125228590del, NC_000003.11:g.124947433_124947434del, NG_052987.1:g.151766_151767del, NM_021964.3:c.*3752_*3753del, NM_021964.2:c.*3752_*3753del, NM_001348432.2:c.*3752_*3753del, NM_001348432.1:c.*3752_*3753del, NM_001348425.2:c.*3752_*3753del, NM_001348425.1:c.*3752_*3753del, NM_001348429.2:c.*3752_*3753del, NM_001348429.1:c.*3752_*3753del, NM_001348427.2:c.*3752_*3753del, NM_001348427.1:c.*3752_*3753del, NM_001348433.2:c.*3752_*3753del, NM_001348433.1:c.*3752_*3753del, NM_001348428.2:c.*3752_*3753del, NM_001348428.1:c.*3752_*3753del, NM_001348430.2:c.*3752_*3753del, NM_001348430.1:c.*3752_*3753del, NM_001348431.2:c.*3752_*3753del, NM_001348431.1:c.*3752_*3753del, NM_001348434.2:c.*3752_*3753del, NM_001348434.1:c.*3752_*3753del, NM_001348426.2:c.*3752_*3753del, NM_001348426.1:c.*3752_*3753del, NM_001348424.1:c.*3752_*3753del

Select item 14899173248.

rs1489917324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125229439 (GRCh38)
3:124948283 (GRCh37)
Canonical SPDI:: NC_000003.12:125229438:T:C
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125229439T>C, NC_000003.11:g.124948283T>C, NG_052987.1:g.150916A>G, NM_021964.3:c.*2902A>G, NM_021964.2:c.*2902A>G, NM_001348432.2:c.*2902A>G, NM_001348432.1:c.*2902A>G, NM_001348425.2:c.*2902A>G, NM_001348425.1:c.*2902A>G, NM_001348429.2:c.*2902A>G, NM_001348429.1:c.*2902A>G, NM_001348427.2:c.*2902A>G, NM_001348427.1:c.*2902A>G, NM_001348433.2:c.*2902A>G, NM_001348433.1:c.*2902A>G, NM_001348428.2:c.*2902A>G, NM_001348428.1:c.*2902A>G, NM_001348430.2:c.*2902A>G, NM_001348430.1:c.*2902A>G, NM_001348431.2:c.*2902A>G, NM_001348431.1:c.*2902A>G, NM_001348434.2:c.*2902A>G, NM_001348434.1:c.*2902A>G, NM_001348426.2:c.*2902A>G, NM_001348426.1:c.*2902A>G, NM_001348424.1:c.*2902A>G

Select item 14895027629.

rs1489502762 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:125229657 (GRCh38)
3:124948501 (GRCh37)
Canonical SPDI:: NC_000003.12:125229655:TGT:T
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125229657_125229658del, NC_000003.11:g.124948501_124948502del, NG_052987.1:g.150698_150699del, NM_021964.3:c.*2684_*2685del, NM_021964.2:c.*2684_*2685del, NM_001348432.2:c.*2684_*2685del, NM_001348432.1:c.*2684_*2685del, NM_001348425.2:c.*2684_*2685del, NM_001348425.1:c.*2684_*2685del, NM_001348429.2:c.*2684_*2685del, NM_001348429.1:c.*2684_*2685del, NM_001348427.2:c.*2684_*2685del, NM_001348427.1:c.*2684_*2685del, NM_001348433.2:c.*2684_*2685del, NM_001348433.1:c.*2684_*2685del, NM_001348428.2:c.*2684_*2685del, NM_001348428.1:c.*2684_*2685del, NM_001348430.2:c.*2684_*2685del, NM_001348430.1:c.*2684_*2685del, NM_001348431.2:c.*2684_*2685del, NM_001348431.1:c.*2684_*2685del, NM_001348434.2:c.*2684_*2685del, NM_001348434.1:c.*2684_*2685del, NM_001348426.2:c.*2684_*2685del, NM_001348426.1:c.*2684_*2685del, NM_001348424.1:c.*2684_*2685del

Select item 148931674410.

rs1489316744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:125232183 (GRCh38)
3:124951027 (GRCh37)
Canonical SPDI:: NC_000003.12:125232182:C:G,NC_000003.12:125232182:C:T
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000093/13 (GnomAD)
HGVS:: NC_000003.12:g.125232183C>G, NC_000003.12:g.125232183C>T, NC_000003.11:g.124951027C>G, NC_000003.11:g.124951027C>T, NG_052987.1:g.148172G>C, NG_052987.1:g.148172G>A, NM_021964.3:c.*158G>C, NM_021964.3:c.*158G>A, NM_021964.2:c.*158G>C, NM_021964.2:c.*158G>A, NM_001348432.2:c.*158G>C, NM_001348432.2:c.*158G>A, NM_001348432.1:c.*158G>C, NM_001348432.1:c.*158G>A, NM_001348425.2:c.*158G>C, NM_001348425.2:c.*158G>A, NM_001348425.1:c.*158G>C, NM_001348425.1:c.*158G>A, NM_001348429.2:c.*158G>C, NM_001348429.2:c.*158G>A, NM_001348429.1:c.*158G>C, NM_001348429.1:c.*158G>A, NM_001348427.2:c.*158G>C, NM_001348427.2:c.*158G>A, NM_001348427.1:c.*158G>C, NM_001348427.1:c.*158G>A, NM_001348433.2:c.*158G>C, NM_001348433.2:c.*158G>A, NM_001348433.1:c.*158G>C, NM_001348433.1:c.*158G>A, NM_001348428.2:c.*158G>C, NM_001348428.2:c.*158G>A, NM_001348428.1:c.*158G>C, NM_001348428.1:c.*158G>A, NM_001348430.2:c.*158G>C, NM_001348430.2:c.*158G>A, NM_001348430.1:c.*158G>C, NM_001348430.1:c.*158G>A, NM_001348431.2:c.*158G>C, NM_001348431.2:c.*158G>A, NM_001348431.1:c.*158G>C, NM_001348431.1:c.*158G>A, NM_001348434.2:c.*158G>C, NM_001348434.2:c.*158G>A, NM_001348434.1:c.*158G>C, NM_001348434.1:c.*158G>A, NM_001348426.2:c.*158G>C, NM_001348426.2:c.*158G>A, NM_001348426.1:c.*158G>C, NM_001348426.1:c.*158G>A, NM_001348424.1:c.*158G>C, NM_001348424.1:c.*158G>A, NG_083118.1:g.319C>G, NG_083118.1:g.319C>T

Select item 148927815311.

rs1489278153 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:125229124 (GRCh38)
3:124947969 (GRCh37)
Canonical SPDI:: NC_000003.12:125229124:G:GG
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000054/1 (ALFA)
G=0.000057/8 (GnomAD)
G=0.000079/21 (TOPMED)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.125229125dup, NC_000003.11:g.124947969dup, NG_052987.1:g.151230dup, NM_021964.3:c.*3216dup, NM_021964.2:c.*3216dup, NM_001348432.2:c.*3216dup, NM_001348432.1:c.*3216dup, NM_001348425.2:c.*3216dup, NM_001348425.1:c.*3216dup, NM_001348429.2:c.*3216dup, NM_001348429.1:c.*3216dup, NM_001348427.2:c.*3216dup, NM_001348427.1:c.*3216dup, NM_001348433.2:c.*3216dup, NM_001348433.1:c.*3216dup, NM_001348428.2:c.*3216dup, NM_001348428.1:c.*3216dup, NM_001348430.2:c.*3216dup, NM_001348430.1:c.*3216dup, NM_001348431.2:c.*3216dup, NM_001348431.1:c.*3216dup, NM_001348434.2:c.*3216dup, NM_001348434.1:c.*3216dup, NM_001348426.2:c.*3216dup, NM_001348426.1:c.*3216dup, NM_001348424.1:c.*3216dup

Select item 148882472512.

rs1488824725 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>- [Show Flanks]
Chromosome:: 3:125225687 (GRCh38)
3:124944531 (GRCh37)
Canonical SPDI:: NC_000003.12:125225683:TTTTTT:TTT
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.125225687_125225689del, NC_000003.11:g.124944531_124944533del, NG_052987.1:g.154669_154671del, NM_021964.3:c.*6655_*6657del, NM_021964.2:c.*6655_*6657del, NM_001348432.2:c.*6655_*6657del, NM_001348432.1:c.*6655_*6657del, NM_001348425.2:c.*6655_*6657del, NM_001348425.1:c.*6655_*6657del, NM_001348429.2:c.*6655_*6657del, NM_001348429.1:c.*6655_*6657del, NM_001348427.2:c.*6655_*6657del, NM_001348427.1:c.*6655_*6657del, NM_001348433.2:c.*6655_*6657del, NM_001348433.1:c.*6655_*6657del, NM_001348428.2:c.*6655_*6657del, NM_001348428.1:c.*6655_*6657del, NM_001348430.2:c.*6655_*6657del, NM_001348430.1:c.*6655_*6657del, NM_001348431.2:c.*6655_*6657del, NM_001348431.1:c.*6655_*6657del, NM_001348434.2:c.*6655_*6657del, NM_001348434.1:c.*6655_*6657del, NM_001348426.2:c.*6655_*6657del, NM_001348426.1:c.*6655_*6657del, NM_001348424.1:c.*6655_*6657del

Select item 148880616813.

rs1488806168 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTT>- [Show Flanks]
Chromosome:: 3:125226387 (GRCh38)
3:124945231 (GRCh37)
Canonical SPDI:: NC_000003.12:125226380:TATTTTATTTT:TATTTT
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.125226382ATTTT[1], NC_000003.11:g.124945226ATTTT[1], NG_052987.1:g.153965AAATA[1], NM_021964.3:c.*5951AAATA[1], NM_021964.2:c.*5951AAATA[1], NM_001348432.2:c.*5951AAATA[1], NM_001348432.1:c.*5951AAATA[1], NM_001348425.2:c.*5951AAATA[1], NM_001348425.1:c.*5951AAATA[1], NM_001348429.2:c.*5951AAATA[1], NM_001348429.1:c.*5951AAATA[1], NM_001348427.2:c.*5951AAATA[1], NM_001348427.1:c.*5951AAATA[1], NM_001348433.2:c.*5951AAATA[1], NM_001348433.1:c.*5951AAATA[1], NM_001348428.2:c.*5951AAATA[1], NM_001348428.1:c.*5951AAATA[1], NM_001348430.2:c.*5951AAATA[1], NM_001348430.1:c.*5951AAATA[1], NM_001348431.2:c.*5951AAATA[1], NM_001348431.1:c.*5951AAATA[1], NM_001348434.2:c.*5951AAATA[1], NM_001348434.1:c.*5951AAATA[1], NM_001348426.2:c.*5951AAATA[1], NM_001348426.1:c.*5951AAATA[1], NM_001348424.1:c.*5951AAATA[1]

Select item 148878234314.

rs1488782343 has merged into rs5852451 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:125229216 (GRCh38)
3:124948060 (GRCh37)
Canonical SPDI:: NC_000003.12:125229204:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:125229204:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:125229204:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:125229204:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:125229204:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:125229204:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:125229204:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:125229204:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.3031/1518 (1000Genomes)
T=0.4564/272 (NorthernSweden)
HGVS:: NC_000003.12:g.125229216_125229220del, NC_000003.12:g.125229218_125229220del, NC_000003.12:g.125229219_125229220del, NC_000003.12:g.125229220del, NC_000003.12:g.125229220dup, NC_000003.12:g.125229219_125229220dup, NC_000003.12:g.125229213_125229220dup, NC_000003.12:g.125229209_125229220dup, NC_000003.11:g.124948060_124948064del, NC_000003.11:g.124948062_124948064del, NC_000003.11:g.124948063_124948064del, NC_000003.11:g.124948064del, NC_000003.11:g.124948064dup, NC_000003.11:g.124948063_124948064dup, NC_000003.11:g.124948057_124948064dup, NC_000003.11:g.124948053_124948064dup, NG_052987.1:g.151146_151150del, NG_052987.1:g.151148_151150del, NG_052987.1:g.151149_151150del, NG_052987.1:g.151150del, NG_052987.1:g.151150dup, NG_052987.1:g.151149_151150dup, NG_052987.1:g.151143_151150dup, NG_052987.1:g.151139_151150dup, NM_021964.3:c.*3132_*3136del, NM_021964.3:c.*3134_*3136del, NM_021964.3:c.*3135_*3136del, NM_021964.3:c.*3136del, NM_021964.3:c.*3136dup, NM_021964.3:c.*3135_*3136dup, NM_021964.3:c.*3129_*3136dup, NM_021964.3:c.*3125_*3136dup, NM_021964.2:c.*3132_*3136del, NM_021964.2:c.*3134_*3136del, NM_021964.2:c.*3135_*3136del, NM_021964.2:c.*3136del, NM_021964.2:c.*3136dup, NM_021964.2:c.*3135_*3136dup, NM_021964.2:c.*3129_*3136dup, NM_021964.2:c.*3125_*3136dup, NM_001348432.2:c.*3132_*3136del, NM_001348432.2:c.*3134_*3136del, NM_001348432.2:c.*3135_*3136del, NM_001348432.2:c.*3136del, NM_001348432.2:c.*3136dup, NM_001348432.2:c.*3135_*3136dup, NM_001348432.2:c.*3129_*3136dup, NM_001348432.2:c.*3125_*3136dup, NM_001348432.1:c.*3132_*3136del, NM_001348432.1:c.*3134_*3136del, NM_001348432.1:c.*3135_*3136del, NM_001348432.1:c.*3136del, NM_001348432.1:c.*3136dup, NM_001348432.1:c.*3135_*3136dup, NM_001348432.1:c.*3129_*3136dup, NM_001348432.1:c.*3125_*3136dup, NM_001348425.2:c.*3132_*3136del, NM_001348425.2:c.*3134_*3136del, NM_001348425.2:c.*3135_*3136del, NM_001348425.2:c.*3136del, NM_001348425.2:c.*3136dup, NM_001348425.2:c.*3135_*3136dup, NM_001348425.2:c.*3129_*3136dup, NM_001348425.2:c.*3125_*3136dup, NM_001348425.1:c.*3132_*3136del, NM_001348425.1:c.*3134_*3136del, NM_001348425.1:c.*3135_*3136del, NM_001348425.1:c.*3136del, NM_001348425.1:c.*3136dup, NM_001348425.1:c.*3135_*3136dup, NM_001348425.1:c.*3129_*3136dup, NM_001348425.1:c.*3125_*3136dup, NM_001348429.2:c.*3132_*3136del, NM_001348429.2:c.*3134_*3136del, NM_001348429.2:c.*3135_*3136del, NM_001348429.2:c.*3136del, NM_001348429.2:c.*3136dup, NM_001348429.2:c.*3135_*3136dup, NM_001348429.2:c.*3129_*3136dup, NM_001348429.2:c.*3125_*3136dup, NM_001348429.1:c.*3132_*3136del, NM_001348429.1:c.*3134_*3136del, NM_001348429.1:c.*3135_*3136del, NM_001348429.1:c.*3136del, NM_001348429.1:c.*3136dup, NM_001348429.1:c.*3135_*3136dup, NM_001348429.1:c.*3129_*3136dup, NM_001348429.1:c.*3125_*3136dup, NM_001348427.2:c.*3132_*3136del, NM_001348427.2:c.*3134_*3136del, NM_001348427.2:c.*3135_*3136del, NM_001348427.2:c.*3136del, NM_001348427.2:c.*3136dup, NM_001348427.2:c.*3135_*3136dup, NM_001348427.2:c.*3129_*3136dup, NM_001348427.2:c.*3125_*3136dup, NM_001348427.1:c.*3132_*3136del, NM_001348427.1:c.*3134_*3136del, NM_001348427.1:c.*3135_*3136del, NM_001348427.1:c.*3136del, NM_001348427.1:c.*3136dup, NM_001348427.1:c.*3135_*3136dup, NM_001348427.1:c.*3129_*3136dup, NM_001348427.1:c.*3125_*3136dup, NM_001348433.2:c.*3132_*3136del, NM_001348433.2:c.*3134_*3136del, NM_001348433.2:c.*3135_*3136del, NM_001348433.2:c.*3136del, NM_001348433.2:c.*3136dup, NM_001348433.2:c.*3135_*3136dup, NM_001348433.2:c.*3129_*3136dup, NM_001348433.2:c.*3125_*3136dup, NM_001348433.1:c.*3132_*3136del, NM_001348433.1:c.*3134_*3136del, NM_001348433.1:c.*3135_*3136del, NM_001348433.1:c.*3136del, NM_001348433.1:c.*3136dup, NM_001348433.1:c.*3135_*3136dup, NM_001348433.1:c.*3129_*3136dup, NM_001348433.1:c.*3125_*3136dup, NM_001348428.2:c.*3132_*3136del, NM_001348428.2:c.*3134_*3136del, NM_001348428.2:c.*3135_*3136del, NM_001348428.2:c.*3136del, NM_001348428.2:c.*3136dup, NM_001348428.2:c.*3135_*3136dup, NM_001348428.2:c.*3129_*3136dup, NM_001348428.2:c.*3125_*3136dup, NM_001348428.1:c.*3132_*3136del, NM_001348428.1:c.*3134_*3136del, NM_001348428.1:c.*3135_*3136del, NM_001348428.1:c.*3136del, NM_001348428.1:c.*3136dup, NM_001348428.1:c.*3135_*3136dup, NM_001348428.1:c.*3129_*3136dup, NM_001348428.1:c.*3125_*3136dup, NM_001348430.2:c.*3132_*3136del, NM_001348430.2:c.*3134_*3136del, NM_001348430.2:c.*3135_*3136del, NM_001348430.2:c.*3136del, NM_001348430.2:c.*3136dup, NM_001348430.2:c.*3135_*3136dup, NM_001348430.2:c.*3129_*3136dup, NM_001348430.2:c.*3125_*3136dup, NM_001348430.1:c.*3132_*3136del, NM_001348430.1:c.*3134_*3136del, NM_001348430.1:c.*3135_*3136del, NM_001348430.1:c.*3136del, NM_001348430.1:c.*3136dup, NM_001348430.1:c.*3135_*3136dup, NM_001348430.1:c.*3129_*3136dup, NM_001348430.1:c.*3125_*3136dup, NM_001348431.2:c.*3132_*3136del, NM_001348431.2:c.*3134_*3136del, NM_001348431.2:c.*3135_*3136del, NM_001348431.2:c.*3136del, NM_001348431.2:c.*3136dup, NM_001348431.2:c.*3135_*3136dup, NM_001348431.2:c.*3129_*3136dup, NM_001348431.2:c.*3125_*3136dup, NM_001348431.1:c.*3132_*3136del, NM_001348431.1:c.*3134_*3136del, NM_001348431.1:c.*3135_*3136del, NM_001348431.1:c.*3136del, NM_001348431.1:c.*3136dup, NM_001348431.1:c.*3135_*3136dup, NM_001348431.1:c.*3129_*3136dup, NM_001348431.1:c.*3125_*3136dup, NM_001348434.2:c.*3132_*3136del, NM_001348434.2:c.*3134_*3136del, NM_001348434.2:c.*3135_*3136del, NM_001348434.2:c.*3136del, NM_001348434.2:c.*3136dup, NM_001348434.2:c.*3135_*3136dup, NM_001348434.2:c.*3129_*3136dup, NM_001348434.2:c.*3125_*3136dup, NM_001348434.1:c.*3132_*3136del, NM_001348434.1:c.*3134_*3136del, NM_001348434.1:c.*3135_*3136del, NM_001348434.1:c.*3136del, NM_001348434.1:c.*3136dup, NM_001348434.1:c.*3135_*3136dup, NM_001348434.1:c.*3129_*3136dup, NM_001348434.1:c.*3125_*3136dup, NM_001348426.2:c.*3132_*3136del, NM_001348426.2:c.*3134_*3136del, NM_001348426.2:c.*3135_*3136del, NM_001348426.2:c.*3136del, NM_001348426.2:c.*3136dup, NM_001348426.2:c.*3135_*3136dup, NM_001348426.2:c.*3129_*3136dup, NM_001348426.2:c.*3125_*3136dup, NM_001348426.1:c.*3132_*3136del, NM_001348426.1:c.*3134_*3136del, NM_001348426.1:c.*3135_*3136del, NM_001348426.1:c.*3136del, NM_001348426.1:c.*3136dup, NM_001348426.1:c.*3135_*3136dup, NM_001348426.1:c.*3129_*3136dup, NM_001348426.1:c.*3125_*3136dup, NM_001348424.1:c.*3132_*3136del, NM_001348424.1:c.*3134_*3136del, NM_001348424.1:c.*3135_*3136del, NM_001348424.1:c.*3136del, NM_001348424.1:c.*3136dup, NM_001348424.1:c.*3135_*3136dup, NM_001348424.1:c.*3129_*3136dup, NM_001348424.1:c.*3125_*3136dup

Select item 148859388415.

rs1488593884 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125227962 (GRCh38)
3:124946806 (GRCh37)
Canonical SPDI:: NC_000003.12:125227961:T:C
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.125227962T>C, NC_000003.11:g.124946806T>C, NG_052987.1:g.152393A>G, NM_021964.3:c.*4379A>G, NM_021964.2:c.*4379A>G, NM_001348432.2:c.*4379A>G, NM_001348432.1:c.*4379A>G, NM_001348425.2:c.*4379A>G, NM_001348425.1:c.*4379A>G, NM_001348429.2:c.*4379A>G, NM_001348429.1:c.*4379A>G, NM_001348427.2:c.*4379A>G, NM_001348427.1:c.*4379A>G, NM_001348433.2:c.*4379A>G, NM_001348433.1:c.*4379A>G, NM_001348428.2:c.*4379A>G, NM_001348428.1:c.*4379A>G, NM_001348430.2:c.*4379A>G, NM_001348430.1:c.*4379A>G, NM_001348431.2:c.*4379A>G, NM_001348431.1:c.*4379A>G, NM_001348434.2:c.*4379A>G, NM_001348434.1:c.*4379A>G, NM_001348426.2:c.*4379A>G, NM_001348426.1:c.*4379A>G, NM_001348424.1:c.*4379A>G

Select item 148826870816.

rs1488268708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:125279151 (GRCh38)
3:124997995 (GRCh37)
Canonical SPDI:: NC_000003.12:125279150:A:G
Gene:: ZNF148 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.125279151A>G, NC_000003.11:g.124997995A>G, NG_052987.1:g.101204T>C, NM_021964.3:c.556T>C, NM_021964.2:c.556T>C, NM_001348432.2:c.556T>C, NM_001348432.1:c.556T>C, NM_001348425.2:c.556T>C, NM_001348425.1:c.556T>C, NM_001348429.2:c.556T>C, NM_001348429.1:c.556T>C, NM_001348427.2:c.556T>C, NM_001348427.1:c.556T>C, NM_001348433.2:c.556T>C, NM_001348433.1:c.556T>C, NM_001348428.2:c.556T>C, NM_001348428.1:c.556T>C, NM_001348430.2:c.556T>C, NM_001348430.1:c.556T>C, NM_001348431.2:c.556T>C, NM_001348431.1:c.556T>C, NM_001348434.2:c.430T>C, NM_001348434.1:c.430T>C, NM_001348426.2:c.556T>C, NM_001348426.1:c.556T>C, NM_001348436.2:c.556T>C, NM_001348436.1:c.556T>C, NM_001348424.1:c.556T>C

Select item 148787084817.

rs1487870848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:125225690 (GRCh38)
3:124944534 (GRCh37)
Canonical SPDI:: NC_000003.12:125225689:A:T
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000003.12:g.125225690A>T, NC_000003.11:g.124944534A>T, NG_052987.1:g.154665T>A, NM_021964.3:c.*6651T>A, NM_021964.2:c.*6651T>A, NM_001348432.2:c.*6651T>A, NM_001348432.1:c.*6651T>A, NM_001348425.2:c.*6651T>A, NM_001348425.1:c.*6651T>A, NM_001348429.2:c.*6651T>A, NM_001348429.1:c.*6651T>A, NM_001348427.2:c.*6651T>A, NM_001348427.1:c.*6651T>A, NM_001348433.2:c.*6651T>A, NM_001348433.1:c.*6651T>A, NM_001348428.2:c.*6651T>A, NM_001348428.1:c.*6651T>A, NM_001348430.2:c.*6651T>A, NM_001348430.1:c.*6651T>A, NM_001348431.2:c.*6651T>A, NM_001348431.1:c.*6651T>A, NM_001348434.2:c.*6651T>A, NM_001348434.1:c.*6651T>A, NM_001348426.2:c.*6651T>A, NM_001348426.1:c.*6651T>A, NM_001348424.1:c.*6651T>A

Select item 148782048318.

rs1487820483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125232206 (GRCh38)
3:124951050 (GRCh37)
Canonical SPDI:: NC_000003.12:125232205:T:C
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.125232206T>C, NC_000003.11:g.124951050T>C, NG_052987.1:g.148149A>G, NM_021964.3:c.*135A>G, NM_021964.2:c.*135A>G, NM_001348432.2:c.*135A>G, NM_001348432.1:c.*135A>G, NM_001348425.2:c.*135A>G, NM_001348425.1:c.*135A>G, NM_001348429.2:c.*135A>G, NM_001348429.1:c.*135A>G, NM_001348427.2:c.*135A>G, NM_001348427.1:c.*135A>G, NM_001348433.2:c.*135A>G, NM_001348433.1:c.*135A>G, NM_001348428.2:c.*135A>G, NM_001348428.1:c.*135A>G, NM_001348430.2:c.*135A>G, NM_001348430.1:c.*135A>G, NM_001348431.2:c.*135A>G, NM_001348431.1:c.*135A>G, NM_001348434.2:c.*135A>G, NM_001348434.1:c.*135A>G, NM_001348426.2:c.*135A>G, NM_001348426.1:c.*135A>G, NM_001348424.1:c.*135A>G, NG_083118.1:g.342T>C

Select item 148765720019.

rs1487657200 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:125231780 (GRCh38)
3:124950624 (GRCh37)
Canonical SPDI:: NC_000003.12:125231779:T:A
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.125231780T>A, NC_000003.11:g.124950624T>A, NG_052987.1:g.148575A>T, NM_021964.3:c.*561A>T, NM_021964.2:c.*561A>T, NM_001348432.2:c.*561A>T, NM_001348432.1:c.*561A>T, NM_001348425.2:c.*561A>T, NM_001348425.1:c.*561A>T, NM_001348429.2:c.*561A>T, NM_001348429.1:c.*561A>T, NM_001348427.2:c.*561A>T, NM_001348427.1:c.*561A>T, NM_001348433.2:c.*561A>T, NM_001348433.1:c.*561A>T, NM_001348428.2:c.*561A>T, NM_001348428.1:c.*561A>T, NM_001348430.2:c.*561A>T, NM_001348430.1:c.*561A>T, NM_001348431.2:c.*561A>T, NM_001348431.1:c.*561A>T, NM_001348434.2:c.*561A>T, NM_001348434.1:c.*561A>T, NM_001348426.2:c.*561A>T, NM_001348426.1:c.*561A>T, NM_001348424.1:c.*561A>T

Select item 148713743320.

rs1487137433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:125230432 (GRCh38)
3:124949276 (GRCh37)
Canonical SPDI:: NC_000003.12:125230431:T:C
Gene:: ZNF148 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000003.12:g.125230432T>C, NC_000003.11:g.124949276T>C, NG_052987.1:g.149923A>G, NM_021964.3:c.*1909A>G, NM_021964.2:c.*1909A>G, NM_001348432.2:c.*1909A>G, NM_001348432.1:c.*1909A>G, NM_001348425.2:c.*1909A>G, NM_001348425.1:c.*1909A>G, NM_001348429.2:c.*1909A>G, NM_001348429.1:c.*1909A>G, NM_001348427.2:c.*1909A>G, NM_001348427.1:c.*1909A>G, NM_001348433.2:c.*1909A>G, NM_001348433.1:c.*1909A>G, NM_001348428.2:c.*1909A>G, NM_001348428.1:c.*1909A>G, NM_001348430.2:c.*1909A>G, NM_001348430.1:c.*1909A>G, NM_001348431.2:c.*1909A>G, NM_001348431.1:c.*1909A>G, NM_001348434.2:c.*1909A>G, NM_001348434.1:c.*1909A>G, NM_001348426.2:c.*1909A>G, NM_001348426.1:c.*1909A>G, NM_001348424.1:c.*1909A>G

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