SNP Links for Protein (Select 1013071006) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36384397 (GRCh38)
19:36875299 (GRCh37)
Canonical SPDI:: NC_000019.10:36384396:A:G
Gene:: ZFP82 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.36384397A>G, NC_000019.9:g.36875299A>G, NM_001321918.2:c.*27T>C, NM_001321918.1:c.*27T>C, NM_001321919.2:c.268T>C, NM_001321919.1:c.268T>C, NP_001308848.1:p.Ser90Pro

Select item 14382950587.

rs1438295058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36405637 (GRCh38)
19:36896539 (GRCh37)
Canonical SPDI:: NC_000019.10:36405636:A:G
Gene:: ZFP82 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36405637A>G, NC_000019.9:g.36896539A>G, NM_133466.4:c.172T>C, NM_133466.3:c.172T>C, NM_133466.2:c.172T>C, NM_001321917.2:c.175T>C, NM_001321917.1:c.175T>C, NM_001321918.2:c.172T>C, NM_001321918.1:c.172T>C, NM_001321919.2:c.172T>C, NM_001321919.1:c.172T>C

Select item 14317755188.

rs1431775518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36407887 (GRCh38)
19:36898789 (GRCh37)
Canonical SPDI:: NC_000019.10:36407886:C:T
Gene:: ZFP82 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36407887C>T, NC_000019.9:g.36898789C>T, NM_133466.4:c.136G>A, NM_133466.3:c.136G>A, NM_133466.2:c.136G>A, NM_001321917.2:c.136G>A, NM_001321917.1:c.136G>A, NM_001321918.2:c.136G>A, NM_001321918.1:c.136G>A, NM_001321919.2:c.136G>A, NM_001321919.1:c.136G>A, NP_597723.1:p.Gly46Arg, NP_001308846.1:p.Ala46Thr, NP_001308847.1:p.Gly46Arg, NP_001308848.1:p.Gly46Arg

Select item 14292284389.

rs1429228438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36408012 (GRCh38)
19:36898914 (GRCh37)
Canonical SPDI:: NC_000019.10:36408011:C:T
Gene:: ZFP82 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.36408012C>T, NC_000019.9:g.36898914C>T, NM_133466.4:c.11G>A, NM_133466.3:c.11G>A, NM_133466.2:c.11G>A, NM_001321917.2:c.11G>A, NM_001321917.1:c.11G>A, NM_001321918.2:c.11G>A, NM_001321918.1:c.11G>A, NM_001321919.2:c.11G>A, NM_001321919.1:c.11G>A, NP_597723.1:p.Arg4Gln, NP_001308846.1:p.Arg4Gln, NP_001308847.1:p.Arg4Gln, NP_001308848.1:p.Arg4Gln

Select item 142195478310.

rs1421954783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:36384411 (GRCh38)
19:36875313 (GRCh37)
Canonical SPDI:: NC_000019.10:36384410:G:A,NC_000019.10:36384410:G:T
Gene:: ZFP82 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36384411G>A, NC_000019.10:g.36384411G>T, NC_000019.9:g.36875313G>A, NC_000019.9:g.36875313G>T, NM_001321918.2:c.*13C>T, NM_001321918.2:c.*13C>A, NM_001321918.1:c.*13C>T, NM_001321918.1:c.*13C>A, NM_001321919.2:c.254C>T, NM_001321919.2:c.254C>A, NM_001321919.1:c.254C>T, NM_001321919.1:c.254C>A, NP_001308848.1:p.Ser85Leu, NP_001308848.1:p.Ser85Ter

Select item 142179103411.

rs1421791034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:36408005 (GRCh38)
19:36898907 (GRCh37)
Canonical SPDI:: NC_000019.10:36408004:C:G,NC_000019.10:36408004:C:T
Gene:: ZFP82 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36408005C>G, NC_000019.10:g.36408005C>T, NC_000019.9:g.36898907C>G, NC_000019.9:g.36898907C>T, NM_133466.4:c.18G>C, NM_133466.4:c.18G>A, NM_133466.3:c.18G>C, NM_133466.3:c.18G>A, NM_133466.2:c.18G>C, NM_133466.2:c.18G>A, NM_001321917.2:c.18G>C, NM_001321917.2:c.18G>A, NM_001321917.1:c.18G>C, NM_001321917.1:c.18G>A, NM_001321918.2:c.18G>C, NM_001321918.2:c.18G>A, NM_001321918.1:c.18G>C, NM_001321918.1:c.18G>A, NM_001321919.2:c.18G>C, NM_001321919.2:c.18G>A, NM_001321919.1:c.18G>C, NM_001321919.1:c.18G>A

Select item 141276718212.

rs1412767182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36384410 (GRCh38)
19:36875312 (GRCh37)
Canonical SPDI:: NC_000019.10:36384409:C:T
Gene:: ZFP82 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.36384410C>T, NC_000019.9:g.36875312C>T, NM_001321918.2:c.*14G>A, NM_001321918.1:c.*14G>A, NM_001321919.2:c.255G>A, NM_001321919.1:c.255G>A

Select item 140178536513.

rs1401785365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:36405603 (GRCh38)
19:36896505 (GRCh37)
Canonical SPDI:: NC_000019.10:36405602:C:G,NC_000019.10:36405602:C:T
Gene:: ZFP82 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.36405603C>G, NC_000019.10:g.36405603C>T, NC_000019.9:g.36896505C>G, NC_000019.9:g.36896505C>T, NM_133466.4:c.206G>C, NM_133466.4:c.206G>A, NM_133466.3:c.206G>C, NM_133466.3:c.206G>A, NM_133466.2:c.206G>C, NM_133466.2:c.206G>A, NM_001321917.2:c.209G>C, NM_001321917.2:c.209G>A, NM_001321917.1:c.209G>C, NM_001321917.1:c.209G>A, NM_001321918.2:c.206G>C, NM_001321918.2:c.206G>A, NM_001321918.1:c.206G>C, NM_001321918.1:c.206G>A, NM_001321919.2:c.206G>C, NM_001321919.2:c.206G>A, NM_001321919.1:c.206G>C, NM_001321919.1:c.206G>A, NP_597723.1:p.Arg69Thr, NP_597723.1:p.Arg69Lys, NP_001308846.1:p.Arg70Thr, NP_001308846.1:p.Arg70Lys, NP_001308847.1:p.Arg69Thr, NP_001308847.1:p.Arg69Lys, NP_001308848.1:p.Arg69Thr, NP_001308848.1:p.Arg69Lys

Select item 140041583414.

rs1400415834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36384368 (GRCh38)
19:36875270 (GRCh37)
Canonical SPDI:: NC_000019.10:36384367:C:T
Gene:: ZFP82 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,stop_gained,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.36384368C>T, NC_000019.9:g.36875270C>T, NM_001321918.2:c.*56G>A, NM_001321918.1:c.*56G>A, NM_001321919.2:c.297G>A, NM_001321919.1:c.297G>A, NP_001308848.1:p.Trp99Ter

Select item 138832266415.

rs1388322664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:36407967 (GRCh38)
19:36898869 (GRCh37)
Canonical SPDI:: NC_000019.10:36407966:T:A
Gene:: ZFP82 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36407967T>A, NC_000019.9:g.36898869T>A, NM_133466.4:c.56A>T, NM_133466.3:c.56A>T, NM_133466.2:c.56A>T, NM_001321917.2:c.56A>T, NM_001321917.1:c.56A>T, NM_001321918.2:c.56A>T, NM_001321918.1:c.56A>T, NM_001321919.2:c.56A>T, NM_001321919.1:c.56A>T, NP_597723.1:p.Glu19Val, NP_001308846.1:p.Glu19Val, NP_001308847.1:p.Glu19Val, NP_001308848.1:p.Glu19Val

Select item 138016790316.

rs1380167903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:36405633 (GRCh38)
19:36896535 (GRCh37)
Canonical SPDI:: NC_000019.10:36405632:T:A
Gene:: ZFP82 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36405633T>A, NC_000019.9:g.36896535T>A, NM_133466.4:c.176A>T, NM_133466.3:c.176A>T, NM_133466.2:c.176A>T, NM_001321917.2:c.179A>T, NM_001321917.1:c.179A>T, NM_001321918.2:c.176A>T, NM_001321918.1:c.176A>T, NM_001321919.2:c.176A>T, NM_001321919.1:c.176A>T, NP_597723.1:p.Glu59Val, NP_001308846.1:p.Glu60Val, NP_001308847.1:p.Glu59Val, NP_001308848.1:p.Glu59Val

Select item 137834580817.

rs1378345808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36384428 (GRCh38)
19:36875330 (GRCh37)
Canonical SPDI:: NC_000019.10:36384427:C:T
Gene:: ZFP82 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000106/2 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.36384428C>T, NC_000019.9:g.36875330C>T, NM_001321918.2:c.257G>A, NM_001321918.1:c.257G>A, NM_001321919.2:c.237G>A, NM_001321919.1:c.237G>A, NP_001308847.1:p.Arg86Gln

Select item 135966162118.

rs1359661621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:36384389 (GRCh38)
19:36875291 (GRCh37)
Canonical SPDI:: NC_000019.10:36384388:T:C
Gene:: ZFP82 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36384389T>C, NC_000019.9:g.36875291T>C, NM_001321918.2:c.*35A>G, NM_001321918.1:c.*35A>G, NM_001321919.2:c.276A>G, NM_001321919.1:c.276A>G

Select item 135069763719.

rs1350697637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:36407943 (GRCh38)
19:36898845 (GRCh37)
Canonical SPDI:: NC_000019.10:36407942:T:G
Gene:: ZFP82 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.36407943T>G, NC_000019.9:g.36898845T>G, NM_133466.4:c.80A>C, NM_133466.3:c.80A>C, NM_133466.2:c.80A>C, NM_001321917.2:c.80A>C, NM_001321917.1:c.80A>C, NM_001321918.2:c.80A>C, NM_001321918.1:c.80A>C, NM_001321919.2:c.80A>C, NM_001321919.1:c.80A>C, NP_597723.1:p.Gln27Pro, NP_001308846.1:p.Gln27Pro, NP_001308847.1:p.Gln27Pro, NP_001308848.1:p.Gln27Pro

Select item 133106640520.

rs1331066405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36405632 (GRCh38)
19:36896534 (GRCh37)
Canonical SPDI:: NC_000019.10:36405631:C:T
Gene:: ZFP82 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36405632C>T, NC_000019.9:g.36896534C>T, NM_133466.4:c.177G>A, NM_133466.3:c.177G>A, NM_133466.2:c.177G>A, NM_001321917.2:c.180G>A, NM_001321917.1:c.180G>A, NM_001321918.2:c.177G>A, NM_001321918.1:c.177G>A, NM_001321919.2:c.177G>A, NM_001321919.1:c.177G>A

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