SNP Links for Protein (Select 1007373343) - SNP

Select item 14836943301.

rs1483694330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:11903921 (GRCh38)
19:12014736 (GRCh37)
Canonical SPDI:: NC_000019.10:11903920:C:A
Gene:: ZNF69 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11903921C>A, NC_000019.9:g.12014736C>A, XM_006722873.5:c.216C>A, XM_006722873.4:c.216C>A, XM_006722873.3:c.216C>A, XM_006722873.2:c.216C>A, XM_006722873.1:c.216C>A, XM_006722874.4:c.216C>A, XM_006722874.3:c.216C>A, XM_006722874.2:c.216C>A, XM_006722874.1:c.216C>A, NM_021915.4:c.165C>A, NM_021915.3:c.165C>A, NM_021915.2:c.165C>A, NM_001321163.2:c.207C>A, NM_001321163.1:c.207C>A, XM_017027231.2:c.216C>A, XM_017027231.1:c.216C>A, XM_047439351.1:c.51C>A, NM_001364730.1:c.207C>A, NM_001364731.1:c.165C>A, XP_006722936.1:p.Asp72Glu, XP_006722937.1:p.Asp72Glu, NP_068734.1:p.Asp55Glu, NP_001308092.1:p.Asp69Glu, XP_016882720.1:p.Asp72Glu, XP_047295307.1:p.Asp17Glu, NP_001351659.1:p.Asp69Glu, NP_001351660.1:p.Asp55Glu

Select item 14779315392.

rs1477931539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:11904690 (GRCh38)
19:12015505 (GRCh37)
Canonical SPDI:: NC_000019.10:11904689:G:C
Gene:: ZNF69 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11904690G>C, NC_000019.9:g.12015505G>C, XM_006722873.5:c.302G>C, XM_006722873.4:c.302G>C, XM_006722873.3:c.302G>C, XM_006722873.2:c.302G>C, XM_006722873.1:c.302G>C, XM_006722874.4:c.302G>C, XM_006722874.3:c.302G>C, XM_006722874.2:c.302G>C, XM_006722874.1:c.302G>C, NM_021915.4:c.251G>C, NM_021915.3:c.251G>C, NM_021915.2:c.251G>C, NM_001321163.2:c.293G>C, NM_001321163.1:c.293G>C, XM_017027231.2:c.302G>C, XM_017027231.1:c.302G>C, XM_047439351.1:c.137G>C, NM_001364730.1:c.293G>C, NM_001364731.1:c.251G>C, XP_006722936.1:p.Ser101Thr, XP_006722937.1:p.Ser101Thr, NP_068734.1:p.Ser84Thr, NP_001308092.1:p.Ser98Thr, XP_016882720.1:p.Ser101Thr, XP_047295307.1:p.Ser46Thr, NP_001351659.1:p.Ser98Thr, NP_001351660.1:p.Ser84Thr

Select item 14772839493.

rs1477283949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11887934 (GRCh38)
19:11998749 (GRCh37)
Canonical SPDI:: NC_000019.10:11887933:G:A
Gene:: ZNF69 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.11887934G>A, NC_000019.9:g.11998749G>A, XM_006722873.5:c.11G>A, XM_006722873.4:c.11G>A, XM_006722873.3:c.11G>A, XM_006722873.2:c.11G>A, XM_006722873.1:c.11G>A, XM_006722874.4:c.11G>A, XM_006722874.3:c.11G>A, XM_006722874.2:c.11G>A, XM_006722874.1:c.11G>A, NM_021915.4:c.11G>A, NM_021915.3:c.11G>A, NM_021915.2:c.11G>A, NM_001321163.2:c.11G>A, NM_001321163.1:c.11G>A, XM_017027231.2:c.11G>A, XM_017027231.1:c.11G>A, XM_047439351.1:c.-677G>A, NM_001364730.1:c.11G>A, NM_001364731.1:c.11G>A, XP_006722936.1:p.Cys4Tyr, XP_006722937.1:p.Cys4Tyr, NP_068734.1:p.Cys4Tyr, NP_001308092.1:p.Cys4Tyr, XP_016882720.1:p.Cys4Tyr, NP_001351659.1:p.Cys4Tyr, NP_001351660.1:p.Cys4Tyr

Select item 14749240204.

rs1474924020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:11904773 (GRCh38)
19:12015588 (GRCh37)
Canonical SPDI:: NC_000019.10:11904772:T:C
Gene:: ZNF69 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.11904773T>C, NC_000019.9:g.12015588T>C, XM_006722873.5:c.385T>C, XM_006722873.4:c.385T>C, XM_006722873.3:c.385T>C, XM_006722873.2:c.385T>C, XM_006722873.1:c.385T>C, XM_006722874.4:c.385T>C, XM_006722874.3:c.385T>C, XM_006722874.2:c.385T>C, XM_006722874.1:c.385T>C, NM_021915.4:c.334T>C, NM_021915.3:c.334T>C, NM_021915.2:c.334T>C, NM_001321163.2:c.376T>C, NM_001321163.1:c.376T>C, XM_017027231.2:c.385T>C, XM_017027231.1:c.385T>C, XM_047439351.1:c.220T>C, NM_001364730.1:c.376T>C, NM_001364731.1:c.334T>C, XP_006722936.1:p.Cys129Arg, XP_006722937.1:p.Cys129Arg, NP_068734.1:p.Cys112Arg, NP_001308092.1:p.Cys126Arg, XP_016882720.1:p.Cys129Arg, XP_047295307.1:p.Cys74Arg, NP_001351659.1:p.Cys126Arg, NP_001351660.1:p.Cys112Arg

Select item 14732903935.

rs1473290393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11904801 (GRCh38)
19:12015616 (GRCh37)
Canonical SPDI:: NC_000019.10:11904800:G:A
Gene:: ZNF69 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11904801G>A, NC_000019.9:g.12015616G>A, XM_006722873.5:c.413G>A, XM_006722873.4:c.413G>A, XM_006722873.3:c.413G>A, XM_006722873.2:c.413G>A, XM_006722873.1:c.413G>A, XM_006722874.4:c.413G>A, XM_006722874.3:c.413G>A, XM_006722874.2:c.413G>A, XM_006722874.1:c.413G>A, NM_021915.4:c.362G>A, NM_021915.3:c.362G>A, NM_021915.2:c.362G>A, NM_001321163.2:c.404G>A, NM_001321163.1:c.404G>A, XM_017027231.2:c.413G>A, XM_017027231.1:c.413G>A, XM_047439351.1:c.248G>A, NM_001364730.1:c.404G>A, NM_001364731.1:c.362G>A, XP_006722936.1:p.Gly138Asp, XP_006722937.1:p.Gly138Asp, NP_068734.1:p.Gly121Asp, NP_001308092.1:p.Gly135Asp, XP_016882720.1:p.Gly138Asp, XP_047295307.1:p.Gly83Asp, NP_001351659.1:p.Gly135Asp, NP_001351660.1:p.Gly121Asp

Select item 14595730386.

rs1459573038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:11904724 (GRCh38)
19:12015539 (GRCh37)
Canonical SPDI:: NC_000019.10:11904723:T:A,NC_000019.10:11904723:T:C
Gene:: ZNF69 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.11904724T>A, NC_000019.10:g.11904724T>C, NC_000019.9:g.12015539T>A, NC_000019.9:g.12015539T>C, XM_006722873.5:c.336T>A, XM_006722873.5:c.336T>C, XM_006722873.4:c.336T>A, XM_006722873.4:c.336T>C, XM_006722873.3:c.336T>A, XM_006722873.3:c.336T>C, XM_006722873.2:c.336T>A, XM_006722873.2:c.336T>C, XM_006722873.1:c.336T>A, XM_006722873.1:c.336T>C, XM_006722874.4:c.336T>A, XM_006722874.4:c.336T>C, XM_006722874.3:c.336T>A, XM_006722874.3:c.336T>C, XM_006722874.2:c.336T>A, XM_006722874.2:c.336T>C, XM_006722874.1:c.336T>A, XM_006722874.1:c.336T>C, NM_021915.4:c.285T>A, NM_021915.4:c.285T>C, NM_021915.3:c.285T>A, NM_021915.3:c.285T>C, NM_021915.2:c.285T>A, NM_021915.2:c.285T>C, NM_001321163.2:c.327T>A, NM_001321163.2:c.327T>C, NM_001321163.1:c.327T>A, NM_001321163.1:c.327T>C, XM_017027231.2:c.336T>A, XM_017027231.2:c.336T>C, XM_017027231.1:c.336T>A, XM_017027231.1:c.336T>C, XM_047439351.1:c.171T>A, XM_047439351.1:c.171T>C, NM_001364730.1:c.327T>A, NM_001364730.1:c.327T>C, NM_001364731.1:c.285T>A, NM_001364731.1:c.285T>C, XP_006722936.1:p.Asp112Glu, XP_006722937.1:p.Asp112Glu, NP_068734.1:p.Asp95Glu, NP_001308092.1:p.Asp109Glu, XP_016882720.1:p.Asp112Glu, XP_047295307.1:p.Asp57Glu, NP_001351659.1:p.Asp109Glu, NP_001351660.1:p.Asp95Glu

Select item 14520967067.

rs1452096706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:11903628 (GRCh38)
19:12014443 (GRCh37)
Canonical SPDI:: NC_000019.10:11903627:T:A
Gene:: ZNF69 (Varview)
Functional Consequence:: stop_gained,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11903628T>A, NC_000019.9:g.12014443T>A, XM_006722873.5:c.128T>A, XM_006722873.4:c.128T>A, XM_006722873.3:c.128T>A, XM_006722873.2:c.128T>A, XM_006722873.1:c.128T>A, XM_006722874.4:c.128T>A, XM_006722874.3:c.128T>A, XM_006722874.2:c.128T>A, XM_006722874.1:c.128T>A, NM_021915.4:c.77T>A, NM_021915.3:c.77T>A, NM_021915.2:c.77T>A, NM_001321163.2:c.119T>A, NM_001321163.1:c.119T>A, XM_017027231.2:c.128T>A, XM_017027231.1:c.128T>A, XM_047439351.1:c.-38T>A, NM_001364730.1:c.119T>A, NM_001364731.1:c.77T>A, XP_006722936.1:p.Leu43Ter, XP_006722937.1:p.Leu43Ter, NP_068734.1:p.Leu26Ter, NP_001308092.1:p.Leu40Ter, XP_016882720.1:p.Leu43Ter, NP_001351659.1:p.Leu40Ter, NP_001351660.1:p.Leu26Ter

Select item 14511155058.

rs1451115505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11904858 (GRCh38)
19:12015673 (GRCh37)
Canonical SPDI:: NC_000019.10:11904857:A:G
Gene:: ZNF69 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11904858A>G, NC_000019.9:g.12015673A>G, XM_006722873.5:c.470A>G, XM_006722873.4:c.470A>G, XM_006722873.3:c.470A>G, XM_006722873.2:c.470A>G, XM_006722873.1:c.470A>G, XM_006722874.4:c.470A>G, XM_006722874.3:c.470A>G, XM_006722874.2:c.470A>G, XM_006722874.1:c.470A>G, NM_021915.4:c.419A>G, NM_021915.3:c.419A>G, NM_021915.2:c.419A>G, NM_001321163.2:c.461A>G, NM_001321163.1:c.461A>G, XM_017027231.2:c.470A>G, XM_017027231.1:c.470A>G, XM_047439351.1:c.305A>G, NM_001364730.1:c.461A>G, NM_001364731.1:c.419A>G, XP_006722936.1:p.Tyr157Cys, XP_006722937.1:p.Tyr157Cys, NP_068734.1:p.Tyr140Cys, NP_001308092.1:p.Tyr154Cys, XP_016882720.1:p.Tyr157Cys, XP_047295307.1:p.Tyr102Cys, NP_001351659.1:p.Tyr154Cys, NP_001351660.1:p.Tyr140Cys

Select item 14496838959.

rs1449683895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:11903596 (GRCh38)
19:12014411 (GRCh37)
Canonical SPDI:: NC_000019.10:11903595:T:C,NC_000019.10:11903595:T:G
Gene:: ZNF69 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000019.10:g.11903596T>C, NC_000019.10:g.11903596T>G, NC_000019.9:g.12014411T>C, NC_000019.9:g.12014411T>G, XM_006722873.5:c.96T>C, XM_006722873.5:c.96T>G, XM_006722873.4:c.96T>C, XM_006722873.4:c.96T>G, XM_006722873.3:c.96T>C, XM_006722873.3:c.96T>G, XM_006722873.2:c.96T>C, XM_006722873.2:c.96T>G, XM_006722873.1:c.96T>C, XM_006722873.1:c.96T>G, XM_006722874.4:c.96T>C, XM_006722874.4:c.96T>G, XM_006722874.3:c.96T>C, XM_006722874.3:c.96T>G, XM_006722874.2:c.96T>C, XM_006722874.2:c.96T>G, XM_006722874.1:c.96T>C, XM_006722874.1:c.96T>G, NM_001321163.2:c.87T>C, NM_001321163.2:c.87T>G, NM_001321163.1:c.87T>C, NM_001321163.1:c.87T>G, XM_017027231.2:c.96T>C, XM_017027231.2:c.96T>G, XM_017027231.1:c.96T>C, XM_017027231.1:c.96T>G, NM_001364730.1:c.87T>C, NM_001364730.1:c.87T>G

Select item 144267876610.

rs1442678766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:11904777 (GRCh38)
19:12015592 (GRCh37)
Canonical SPDI:: NC_000019.10:11904776:A:G,NC_000019.10:11904776:A:T
Gene:: ZNF69 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11904777A>G, NC_000019.10:g.11904777A>T, NC_000019.9:g.12015592A>G, NC_000019.9:g.12015592A>T, XM_006722873.5:c.389A>G, XM_006722873.5:c.389A>T, XM_006722873.4:c.389A>G, XM_006722873.4:c.389A>T, XM_006722873.3:c.389A>G, XM_006722873.3:c.389A>T, XM_006722873.2:c.389A>G, XM_006722873.2:c.389A>T, XM_006722873.1:c.389A>G, XM_006722873.1:c.389A>T, XM_006722874.4:c.389A>G, XM_006722874.4:c.389A>T, XM_006722874.3:c.389A>G, XM_006722874.3:c.389A>T, XM_006722874.2:c.389A>G, XM_006722874.2:c.389A>T, XM_006722874.1:c.389A>G, XM_006722874.1:c.389A>T, NM_021915.4:c.338A>G, NM_021915.4:c.338A>T, NM_021915.3:c.338A>G, NM_021915.3:c.338A>T, NM_021915.2:c.338A>G, NM_021915.2:c.338A>T, NM_001321163.2:c.380A>G, NM_001321163.2:c.380A>T, NM_001321163.1:c.380A>G, NM_001321163.1:c.380A>T, XM_017027231.2:c.389A>G, XM_017027231.2:c.389A>T, XM_017027231.1:c.389A>G, XM_017027231.1:c.389A>T, XM_047439351.1:c.224A>G, XM_047439351.1:c.224A>T, NM_001364730.1:c.380A>G, NM_001364730.1:c.380A>T, NM_001364731.1:c.338A>G, NM_001364731.1:c.338A>T, XP_006722936.1:p.Asp130Gly, XP_006722936.1:p.Asp130Val, XP_006722937.1:p.Asp130Gly, XP_006722937.1:p.Asp130Val, NP_068734.1:p.Asp113Gly, NP_068734.1:p.Asp113Val, NP_001308092.1:p.Asp127Gly, NP_001308092.1:p.Asp127Val, XP_016882720.1:p.Asp130Gly, XP_016882720.1:p.Asp130Val, XP_047295307.1:p.Asp75Gly, XP_047295307.1:p.Asp75Val, NP_001351659.1:p.Asp127Gly, NP_001351659.1:p.Asp127Val, NP_001351660.1:p.Asp113Gly, NP_001351660.1:p.Asp113Val

Select item 144046827911.

rs1440468279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:11904846 (GRCh38)
19:12015661 (GRCh37)
Canonical SPDI:: NC_000019.10:11904845:G:C
Gene:: ZNF69 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11904846G>C, NC_000019.9:g.12015661G>C, XM_006722873.5:c.458G>C, XM_006722873.4:c.458G>C, XM_006722873.3:c.458G>C, XM_006722873.2:c.458G>C, XM_006722873.1:c.458G>C, XM_006722874.4:c.458G>C, XM_006722874.3:c.458G>C, XM_006722874.2:c.458G>C, XM_006722874.1:c.458G>C, NM_021915.4:c.407G>C, NM_021915.3:c.407G>C, NM_021915.2:c.407G>C, NM_001321163.2:c.449G>C, NM_001321163.1:c.449G>C, XM_017027231.2:c.458G>C, XM_017027231.1:c.458G>C, XM_047439351.1:c.293G>C, NM_001364730.1:c.449G>C, NM_001364731.1:c.407G>C, XP_006722936.1:p.Gly153Ala, XP_006722937.1:p.Gly153Ala, NP_068734.1:p.Gly136Ala, NP_001308092.1:p.Gly150Ala, XP_016882720.1:p.Gly153Ala, XP_047295307.1:p.Gly98Ala, NP_001351659.1:p.Gly150Ala, NP_001351660.1:p.Gly136Ala

Select item 143598564312.

rs1435985643 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:11904781 (GRCh38)
19:12015596 (GRCh37)
Canonical SPDI:: NC_000019.10:11904780:C:
Gene:: ZNF69 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.11904781del, NC_000019.9:g.12015596del, XM_006722873.5:c.393del, XM_006722873.4:c.393del, XM_006722873.3:c.393del, XM_006722873.2:c.393del, XM_006722873.1:c.393del, XM_006722874.4:c.393del, XM_006722874.3:c.393del, XM_006722874.2:c.393del, XM_006722874.1:c.393del, NM_021915.4:c.342del, NM_021915.3:c.342del, NM_021915.2:c.342del, NM_001321163.2:c.384del, NM_001321163.1:c.384del, XM_017027231.2:c.393del, XM_017027231.1:c.393del, XM_047439351.1:c.228del, NM_001364730.1:c.384del, NM_001364731.1:c.342del, XP_006722936.1:p.Phe132fs, XP_006722937.1:p.Phe132fs, NP_068734.1:p.Phe115fs, NP_001308092.1:p.Phe129fs, XP_016882720.1:p.Phe132fs, XP_047295307.1:p.Phe77fs, NP_001351659.1:p.Phe129fs, NP_001351660.1:p.Phe115fs

Select item 142054842013.

rs1420548420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:11904789 (GRCh38)
19:12015604 (GRCh37)
Canonical SPDI:: NC_000019.10:11904788:G:T
Gene:: ZNF69 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11904789G>T, NC_000019.9:g.12015604G>T, XM_006722873.5:c.401G>T, XM_006722873.4:c.401G>T, XM_006722873.3:c.401G>T, XM_006722873.2:c.401G>T, XM_006722873.1:c.401G>T, XM_006722874.4:c.401G>T, XM_006722874.3:c.401G>T, XM_006722874.2:c.401G>T, XM_006722874.1:c.401G>T, NM_021915.4:c.350G>T, NM_021915.3:c.350G>T, NM_021915.2:c.350G>T, NM_001321163.2:c.392G>T, NM_001321163.1:c.392G>T, XM_017027231.2:c.401G>T, XM_017027231.1:c.401G>T, XM_047439351.1:c.236G>T, NM_001364730.1:c.392G>T, NM_001364731.1:c.350G>T, XP_006722936.1:p.Cys134Phe, XP_006722937.1:p.Cys134Phe, NP_068734.1:p.Cys117Phe, NP_001308092.1:p.Cys131Phe, XP_016882720.1:p.Cys134Phe, XP_047295307.1:p.Cys79Phe, NP_001351659.1:p.Cys131Phe, NP_001351660.1:p.Cys117Phe

Select item 142045541914.

rs1420455419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:11887961 (GRCh38)
19:11998776 (GRCh37)
Canonical SPDI:: NC_000019.10:11887960:C:T
Gene:: ZNF69 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.11887961C>T, NC_000019.9:g.11998776C>T, XM_006722873.5:c.38C>T, XM_006722873.4:c.38C>T, XM_006722873.3:c.38C>T, XM_006722873.2:c.38C>T, XM_006722873.1:c.38C>T, XM_006722874.4:c.38C>T, XM_006722874.3:c.38C>T, XM_006722874.2:c.38C>T, XM_006722874.1:c.38C>T, NM_021915.4:c.38C>T, NM_021915.3:c.38C>T, NM_021915.2:c.38C>T, NM_001321163.2:c.38C>T, NM_001321163.1:c.38C>T, XM_017027231.2:c.38C>T, XM_017027231.1:c.38C>T, XM_047439351.1:c.-650C>T, NM_001364730.1:c.38C>T, NM_001364731.1:c.38C>T, XP_006722936.1:p.Pro13Leu, XP_006722937.1:p.Pro13Leu, NP_068734.1:p.Pro13Leu, NP_001308092.1:p.Pro13Leu, XP_016882720.1:p.Pro13Leu, NP_001351659.1:p.Pro13Leu, NP_001351660.1:p.Pro13Leu

Select item 141707786415.

rs1417077864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:11904699 (GRCh38)
19:12015514 (GRCh37)
Canonical SPDI:: NC_000019.10:11904698:G:T
Gene:: ZNF69 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11904699G>T, NC_000019.9:g.12015514G>T, XM_006722873.5:c.311G>T, XM_006722873.4:c.311G>T, XM_006722873.3:c.311G>T, XM_006722873.2:c.311G>T, XM_006722873.1:c.311G>T, XM_006722874.4:c.311G>T, XM_006722874.3:c.311G>T, XM_006722874.2:c.311G>T, XM_006722874.1:c.311G>T, NM_021915.4:c.260G>T, NM_021915.3:c.260G>T, NM_021915.2:c.260G>T, NM_001321163.2:c.302G>T, NM_001321163.1:c.302G>T, XM_017027231.2:c.311G>T, XM_017027231.1:c.311G>T, XM_047439351.1:c.146G>T, NM_001364730.1:c.302G>T, NM_001364731.1:c.260G>T, XP_006722936.1:p.Gly104Val, XP_006722937.1:p.Gly104Val, NP_068734.1:p.Gly87Val, NP_001308092.1:p.Gly101Val, XP_016882720.1:p.Gly104Val, XP_047295307.1:p.Gly49Val, NP_001351659.1:p.Gly101Val, NP_001351660.1:p.Gly87Val

Select item 140869644616.

rs1408696446 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:11904858 (GRCh38)
19:12015673 (GRCh37)
Canonical SPDI:: NC_000019.10:11904857:A:
Gene:: ZNF69 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11904858del, NC_000019.9:g.12015673del, XM_006722873.5:c.470del, XM_006722873.4:c.470del, XM_006722873.3:c.470del, XM_006722873.2:c.470del, XM_006722873.1:c.470del, XM_006722874.4:c.470del, XM_006722874.3:c.470del, XM_006722874.2:c.470del, XM_006722874.1:c.470del, NM_021915.4:c.419del, NM_021915.3:c.419del, NM_021915.2:c.419del, NM_001321163.2:c.461del, NM_001321163.1:c.461del, XM_017027231.2:c.470del, XM_017027231.1:c.470del, XM_047439351.1:c.305del, NM_001364730.1:c.461del, NM_001364731.1:c.419del, XP_006722936.1:p.Tyr157fs, XP_006722937.1:p.Tyr157fs, NP_068734.1:p.Tyr140fs, NP_001308092.1:p.Tyr154fs, XP_016882720.1:p.Tyr157fs, XP_047295307.1:p.Tyr102fs, NP_001351659.1:p.Tyr154fs, NP_001351660.1:p.Tyr140fs

Select item 139720219817.

rs1397202198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:11904739 (GRCh38)
19:12015554 (GRCh37)
Canonical SPDI:: NC_000019.10:11904738:C:T
Gene:: ZNF69 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.11904739C>T, NC_000019.9:g.12015554C>T, XM_006722873.5:c.351C>T, XM_006722873.4:c.351C>T, XM_006722873.3:c.351C>T, XM_006722873.2:c.351C>T, XM_006722873.1:c.351C>T, XM_006722874.4:c.351C>T, XM_006722874.3:c.351C>T, XM_006722874.2:c.351C>T, XM_006722874.1:c.351C>T, NM_021915.4:c.300C>T, NM_021915.3:c.300C>T, NM_021915.2:c.300C>T, NM_001321163.2:c.342C>T, NM_001321163.1:c.342C>T, XM_017027231.2:c.351C>T, XM_017027231.1:c.351C>T, XM_047439351.1:c.186C>T, NM_001364730.1:c.342C>T, NM_001364731.1:c.300C>T

Select item 139646918218.

rs1396469182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11903662 (GRCh38)
19:12014477 (GRCh37)
Canonical SPDI:: NC_000019.10:11903661:A:G
Gene:: ZNF69 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.11903662A>G, NC_000019.9:g.12014477A>G, XM_006722873.5:c.162A>G, XM_006722873.4:c.162A>G, XM_006722873.3:c.162A>G, XM_006722873.2:c.162A>G, XM_006722873.1:c.162A>G, XM_006722874.4:c.162A>G, XM_006722874.3:c.162A>G, XM_006722874.2:c.162A>G, XM_006722874.1:c.162A>G, NM_021915.4:c.111A>G, NM_021915.3:c.111A>G, NM_021915.2:c.111A>G, NM_001321163.2:c.153A>G, NM_001321163.1:c.153A>G, XM_017027231.2:c.162A>G, XM_017027231.1:c.162A>G, XM_047439351.1:c.-4A>G, NM_001364730.1:c.153A>G, NM_001364731.1:c.111A>G

Select item 138782603519.

rs1387826035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:11903668 (GRCh38)
19:12014483 (GRCh37)
Canonical SPDI:: NC_000019.10:11903667:G:A,NC_000019.10:11903667:G:C
Gene:: ZNF69 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,initiator_codon_variant
HGVS:: NC_000019.10:g.11903668G>A, NC_000019.10:g.11903668G>C, NC_000019.9:g.12014483G>A, NC_000019.9:g.12014483G>C, XM_006722873.5:c.168G>A, XM_006722873.5:c.168G>C, XM_006722873.4:c.168G>A, XM_006722873.4:c.168G>C, XM_006722873.3:c.168G>A, XM_006722873.3:c.168G>C, XM_006722873.2:c.168G>A, XM_006722873.2:c.168G>C, XM_006722873.1:c.168G>A, XM_006722873.1:c.168G>C, XM_006722874.4:c.168G>A, XM_006722874.4:c.168G>C, XM_006722874.3:c.168G>A, XM_006722874.3:c.168G>C, XM_006722874.2:c.168G>A, XM_006722874.2:c.168G>C, XM_006722874.1:c.168G>A, XM_006722874.1:c.168G>C, NM_021915.4:c.117G>A, NM_021915.4:c.117G>C, NM_021915.3:c.117G>A, NM_021915.3:c.117G>C, NM_021915.2:c.117G>A, NM_021915.2:c.117G>C, NM_001321163.2:c.159G>A, NM_001321163.2:c.159G>C, NM_001321163.1:c.159G>A, NM_001321163.1:c.159G>C, XM_017027231.2:c.168G>A, XM_017027231.2:c.168G>C, XM_017027231.1:c.168G>A, XM_017027231.1:c.168G>C, XM_047439351.1:c.3G>A, XM_047439351.1:c.3G>C, NM_001364730.1:c.159G>A, NM_001364730.1:c.159G>C, NM_001364731.1:c.117G>A, NM_001364731.1:c.117G>C, XP_006722936.1:p.Met56Ile, XP_006722936.1:p.Met56Ile, XP_006722937.1:p.Met56Ile, XP_006722937.1:p.Met56Ile, NP_068734.1:p.Met39Ile, NP_068734.1:p.Met39Ile, NP_001308092.1:p.Met53Ile, NP_001308092.1:p.Met53Ile, XP_016882720.1:p.Met56Ile, XP_016882720.1:p.Met56Ile, XP_047295307.1:p.Met1Ile, XP_047295307.1:p.Met1Ile, NP_001351659.1:p.Met53Ile, NP_001351659.1:p.Met53Ile, NP_001351660.1:p.Met39Ile, NP_001351660.1:p.Met39Ile

Select item 138403792020.

rs1384037920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11904721 (GRCh38)
19:12015536 (GRCh37)
Canonical SPDI:: NC_000019.10:11904720:A:G
Gene:: ZNF69 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.11904721A>G, NC_000019.9:g.12015536A>G, XM_006722873.5:c.333A>G, XM_006722873.4:c.333A>G, XM_006722873.3:c.333A>G, XM_006722873.2:c.333A>G, XM_006722873.1:c.333A>G, XM_006722874.4:c.333A>G, XM_006722874.3:c.333A>G, XM_006722874.2:c.333A>G, XM_006722874.1:c.333A>G, NM_021915.4:c.282A>G, NM_021915.3:c.282A>G, NM_021915.2:c.282A>G, NM_001321163.2:c.324A>G, NM_001321163.1:c.324A>G, XM_017027231.2:c.333A>G, XM_017027231.1:c.333A>G, XM_047439351.1:c.168A>G, NM_001364730.1:c.324A>G, NM_001364731.1:c.282A>G

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Result Filters

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Global MAF

Custom range

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Items: 1 to 20 of 177

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