SNP Links for Nucleotide (Select 239787079) - SNP

Links from Nucleotide

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Select item 14902253591.

rs1490225359 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:52729875 (GRCh38)
19:53233128 (GRCh37)
Canonical SPDI:: NC_000019.10:52729874:A:C,NC_000019.10:52729874:A:G
Gene:: ZNF611 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00005/7 (GnomAD)
G=0.000312/2 (1000Genomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.52729875A>C, NC_000019.10:g.52729875A>G, NC_000019.9:g.53233128A>C, NC_000019.9:g.53233128A>G, NM_030972.3:c.-310T>G, NM_030972.3:c.-310T>C

Select item 14894314122.

rs1489431412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:52706436 (GRCh38)
19:53209689 (GRCh37)
Canonical SPDI:: NC_000019.10:52706435:T:A,NC_000019.10:52706435:T:C
Gene:: ZNF611 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.52706436T>A, NC_000019.10:g.52706436T>C, NC_000019.9:g.53209689T>A, NC_000019.9:g.53209689T>C, NM_030972.3:c.619A>T, NM_030972.3:c.619A>G, NM_001161499.2:c.619A>T, NM_001161499.2:c.619A>G, NM_001161499.1:c.619A>T, NM_001161499.1:c.619A>G, NM_001161500.2:c.619A>T, NM_001161500.2:c.619A>G, NM_001161500.1:c.619A>T, NM_001161500.1:c.619A>G, NM_001161501.1:c.412A>T, NM_001161501.1:c.412A>G, NP_112234.3:p.Asn207Tyr, NP_112234.3:p.Asn207Asp, NP_001154971.1:p.Asn207Tyr, NP_001154971.1:p.Asn207Asp, NP_001154972.1:p.Asn207Tyr, NP_001154972.1:p.Asn207Asp, NP_001154973.1:p.Asn138Tyr, NP_001154973.1:p.Asn138Asp

Select item 14888571453.

rs1488857145 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT,ATCT [Show Flanks]
Chromosome:: 19:52703319 (GRCh38)
19:53206573 (GRCh37)
Canonical SPDI:: NC_000019.10:52703319::AT,NC_000019.10:52703319::ATCT
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
AT=0.000034/9 (TOPMED)
ATCT=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.52703319_52703320insAT, NC_000019.10:g.52703319_52703320insATCT, NC_000019.9:g.53206572_53206573insAT, NC_000019.9:g.53206572_53206573insATCT, NM_030972.3:c.*1617_*1618insAT, NM_030972.3:c.*1617_*1618insAGAT, NM_001161499.2:c.*1617_*1618insAT, NM_001161499.2:c.*1617_*1618insAGAT, NM_001161499.1:c.*1617_*1618insAT, NM_001161499.1:c.*1617_*1618insAGAT, NM_001161500.2:c.*1617_*1618insAT, NM_001161500.2:c.*1617_*1618insAGAT, NM_001161500.1:c.*1617_*1618insAT, NM_001161500.1:c.*1617_*1618insAGAT, NM_001161501.1:c.*1617_*1618insAT, NM_001161501.1:c.*1617_*1618insAGAT

Select item 14874713064.

rs1487471306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:52705844 (GRCh38)
19:53209097 (GRCh37)
Canonical SPDI:: NC_000019.10:52705843:T:C,NC_000019.10:52705843:T:G
Gene:: ZNF611 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52705844T>C, NC_000019.10:g.52705844T>G, NC_000019.9:g.53209097T>C, NC_000019.9:g.53209097T>G, NM_030972.3:c.1211A>G, NM_030972.3:c.1211A>C, NM_001161499.2:c.1211A>G, NM_001161499.2:c.1211A>C, NM_001161499.1:c.1211A>G, NM_001161499.1:c.1211A>C, NM_001161500.2:c.1211A>G, NM_001161500.2:c.1211A>C, NM_001161500.1:c.1211A>G, NM_001161500.1:c.1211A>C, NM_001161501.1:c.1004A>G, NM_001161501.1:c.1004A>C, NP_112234.3:p.Asp404Gly, NP_112234.3:p.Asp404Ala, NP_001154971.1:p.Asp404Gly, NP_001154971.1:p.Asp404Ala, NP_001154972.1:p.Asp404Gly, NP_001154972.1:p.Asp404Ala, NP_001154973.1:p.Asp335Gly, NP_001154973.1:p.Asp335Ala

Select item 14867704185.

rs1486770418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:52704297 (GRCh38)
19:53207550 (GRCh37)
Canonical SPDI:: NC_000019.10:52704296:G:A,NC_000019.10:52704296:G:C
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52704297G>A, NC_000019.10:g.52704297G>C, NC_000019.9:g.53207550G>A, NC_000019.9:g.53207550G>C, NM_030972.3:c.*640C>T, NM_030972.3:c.*640C>G, NM_001161499.2:c.*640C>T, NM_001161499.2:c.*640C>G, NM_001161499.1:c.*640C>T, NM_001161499.1:c.*640C>G, NM_001161500.2:c.*640C>T, NM_001161500.2:c.*640C>G, NM_001161500.1:c.*640C>T, NM_001161500.1:c.*640C>G, NM_001161501.1:c.*640C>T, NM_001161501.1:c.*640C>G

Select item 14848833576.

rs1484883357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:52714135 (GRCh38)
19:53217388 (GRCh37)
Canonical SPDI:: NC_000019.10:52714134:A:G
Gene:: ZNF611 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52714135A>G, NC_000019.9:g.53217388A>G, NM_030972.3:c.70T>C, NM_001161499.2:c.70T>C, NM_001161499.1:c.70T>C, NM_001161500.2:c.70T>C, NM_001161500.1:c.70T>C

Select item 14847718707.

rs1484771870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:52706446 (GRCh38)
19:53209699 (GRCh37)
Canonical SPDI:: NC_000019.10:52706445:C:A
Gene:: ZNF611 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52706446C>A, NC_000019.9:g.53209699C>A, NM_030972.3:c.609G>T, NM_001161499.2:c.609G>T, NM_001161499.1:c.609G>T, NM_001161500.2:c.609G>T, NM_001161500.1:c.609G>T, NM_001161501.1:c.402G>T, NP_112234.3:p.Gln203His, NP_001154971.1:p.Gln203His, NP_001154972.1:p.Gln203His, NP_001154973.1:p.Gln134His

Select item 14844825198.

rs1484482519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52703972 (GRCh38)
19:53207225 (GRCh37)
Canonical SPDI:: NC_000019.10:52703971:C:T
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52703972C>T, NC_000019.9:g.53207225C>T, NM_030972.3:c.*965G>A, NM_001161499.2:c.*965G>A, NM_001161499.1:c.*965G>A, NM_001161500.2:c.*965G>A, NM_001161500.1:c.*965G>A, NM_001161501.1:c.*965G>A

Select item 14844460889.

rs1484446088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:52702993 (GRCh38)
19:53206246 (GRCh37)
Canonical SPDI:: NC_000019.10:52702992:G:A,NC_000019.10:52702992:G:T
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.52702993G>A, NC_000019.10:g.52702993G>T, NC_000019.9:g.53206246G>A, NC_000019.9:g.53206246G>T, NM_030972.3:c.*1944C>T, NM_030972.3:c.*1944C>A, NM_001161499.2:c.*1944C>T, NM_001161499.2:c.*1944C>A, NM_001161499.1:c.*1944C>T, NM_001161499.1:c.*1944C>A, NM_001161500.2:c.*1944C>T, NM_001161500.2:c.*1944C>A, NM_001161500.1:c.*1944C>T, NM_001161500.1:c.*1944C>A, NM_001161501.1:c.*1944C>T, NM_001161501.1:c.*1944C>A

Select item 148437135710.

rs1484371357 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:52704799 (GRCh38)
19:53208052 (GRCh37)
Canonical SPDI:: NC_000019.10:52704798:A:G
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.52704799A>G, NC_000019.9:g.53208052A>G, NM_030972.3:c.*138T>C, NM_001161499.2:c.*138T>C, NM_001161499.1:c.*138T>C, NM_001161500.2:c.*138T>C, NM_001161500.1:c.*138T>C, NM_001161501.1:c.*138T>C

Select item 148386230311.

rs1483862303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:52703469 (GRCh38)
19:53206722 (GRCh37)
Canonical SPDI:: NC_000019.10:52703468:A:G
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.52703469A>G, NC_000019.9:g.53206722A>G, NM_030972.3:c.*1468T>C, NM_001161499.2:c.*1468T>C, NM_001161499.1:c.*1468T>C, NM_001161500.2:c.*1468T>C, NM_001161500.1:c.*1468T>C, NM_001161501.1:c.*1468T>C

Select item 148371911612.

rs1483719116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:52704047 (GRCh38)
19:53207300 (GRCh37)
Canonical SPDI:: NC_000019.10:52704046:T:G
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.52704047T>G, NC_000019.9:g.53207300T>G, NM_030972.3:c.*890A>C, NM_001161499.2:c.*890A>C, NM_001161499.1:c.*890A>C, NM_001161500.2:c.*890A>C, NM_001161500.1:c.*890A>C, NM_001161501.1:c.*890A>C

Select item 148358466713.

rs1483584667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:52705702 (GRCh38)
19:53208955 (GRCh37)
Canonical SPDI:: NC_000019.10:52705701:C:A,NC_000019.10:52705701:C:G
Gene:: ZNF611 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52705702C>A, NC_000019.10:g.52705702C>G, NC_000019.9:g.53208955C>A, NC_000019.9:g.53208955C>G, NM_030972.3:c.1353G>T, NM_030972.3:c.1353G>C, NM_001161499.2:c.1353G>T, NM_001161499.2:c.1353G>C, NM_001161499.1:c.1353G>T, NM_001161499.1:c.1353G>C, NM_001161500.2:c.1353G>T, NM_001161500.2:c.1353G>C, NM_001161500.1:c.1353G>T, NM_001161500.1:c.1353G>C, NM_001161501.1:c.1146G>T, NM_001161501.1:c.1146G>C, NP_112234.3:p.Glu451Asp, NP_112234.3:p.Glu451Asp, NP_001154971.1:p.Glu451Asp, NP_001154971.1:p.Glu451Asp, NP_001154972.1:p.Glu451Asp, NP_001154972.1:p.Glu451Asp, NP_001154973.1:p.Glu382Asp, NP_001154973.1:p.Glu382Asp

Select item 148288179814.

rs1482881798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:52703198 (GRCh38)
19:53206451 (GRCh37)
Canonical SPDI:: NC_000019.10:52703197:T:A
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.52703198T>A, NC_000019.9:g.53206451T>A, NM_030972.3:c.*1739A>T, NM_001161499.2:c.*1739A>T, NM_001161499.1:c.*1739A>T, NM_001161500.2:c.*1739A>T, NM_001161500.1:c.*1739A>T, NM_001161501.1:c.*1739A>T

Select item 148287502715.

rs1482875027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52706220 (GRCh38)
19:53209473 (GRCh37)
Canonical SPDI:: NC_000019.10:52706219:T:C
Gene:: ZNF611 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.52706220T>C, NC_000019.9:g.53209473T>C, NM_030972.3:c.835A>G, NM_001161499.2:c.835A>G, NM_001161499.1:c.835A>G, NM_001161500.2:c.835A>G, NM_001161500.1:c.835A>G, NM_001161501.1:c.628A>G, NP_112234.3:p.Arg279Gly, NP_001154971.1:p.Arg279Gly, NP_001154972.1:p.Arg279Gly, NP_001154973.1:p.Arg210Gly

Select item 148225976016.

rs1482259760 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:52715882 (GRCh38)
19:53219135 (GRCh37)
Canonical SPDI:: NC_000019.10:52715881:CC:C
Gene:: ZNF611 (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52715883del, NC_000019.9:g.53219136del, NM_030972.3:c.13del, NM_001161499.2:c.13del, NM_001161499.1:c.13del, NM_001161500.2:c.13del, NM_001161500.1:c.13del, NM_001161501.1:c.-68del, NP_112234.3:p.Glu5fs, NP_001154971.1:p.Glu5fs, NP_001154972.1:p.Glu5fs

Select item 148144519317.

rs1481445193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:52704936 (GRCh38)
19:53208189 (GRCh37)
Canonical SPDI:: NC_000019.10:52704935:T:G
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52704936T>G, NC_000019.9:g.53208189T>G, NM_030972.3:c.*1A>C, NM_001161499.2:c.*1A>C, NM_001161499.1:c.*1A>C, NM_001161500.2:c.*1A>C, NM_001161500.1:c.*1A>C, NM_001161501.1:c.*1A>C

Select item 148114104118.

rs1481141041 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:52703109 (GRCh38)
19:53206362 (GRCh37)
Canonical SPDI:: NC_000019.10:52703108:AA:
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.52703109_52703110del, NC_000019.9:g.53206362_53206363del, NM_030972.3:c.*1827_*1828del, NM_001161499.2:c.*1827_*1828del, NM_001161499.1:c.*1827_*1828del, NM_001161500.2:c.*1827_*1828del, NM_001161500.1:c.*1827_*1828del, NM_001161501.1:c.*1827_*1828del

Select item 148062102319.

rs1480621023 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52702831 (GRCh38)
19:53206084 (GRCh37)
Canonical SPDI:: NC_000019.10:52702830:T:C
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52702831T>C, NC_000019.9:g.53206084T>C, NM_030972.3:c.*2106A>G, NM_001161499.2:c.*2106A>G, NM_001161499.1:c.*2106A>G, NM_001161500.2:c.*2106A>G, NM_001161500.1:c.*2106A>G, NM_001161501.1:c.*2106A>G

Select item 147937852820.

rs1479378528 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52703809 (GRCh38)
19:53207062 (GRCh37)
Canonical SPDI:: NC_000019.10:52703808:T:C
Gene:: ZNF611 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.52703809T>C, NC_000019.9:g.53207062T>C, NM_030972.3:c.*1128A>G, NM_001161499.2:c.*1128A>G, NM_001161499.1:c.*1128A>G, NM_001161500.2:c.*1128A>G, NM_001161500.1:c.*1128A>G, NM_001161501.1:c.*1128A>G

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