SNP Links for Protein (Select 336455120) - SNP

Links from Protein

Items: 1 to 20 of 1461

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Select item 14902515961.

rs1490251596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:22316999 (GRCh38)
19:22499801 (GRCh37)
Canonical SPDI:: NC_000019.10:22316998:C:T
Gene:: ZNF729 (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.22316999C>T, NC_000019.9:g.22499801C>T, NM_001242680.2:c.3582C>T, NM_001242680.1:c.3582C>T

Select item 14902273422.

rs1490227342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 19:22315589 (GRCh38)
19:22498391 (GRCh37)
Canonical SPDI:: NC_000019.10:22315588:A:C,NC_000019.10:22315588:A:G,NC_000019.10:22315588:A:T
Gene:: ZNF729 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000245/4 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000298/5 (TOMMO)
HGVS:: NC_000019.10:g.22315589A>C, NC_000019.10:g.22315589A>G, NC_000019.10:g.22315589A>T, NC_000019.9:g.22498391A>C, NC_000019.9:g.22498391A>G, NC_000019.9:g.22498391A>T, NM_001242680.2:c.2172A>C, NM_001242680.2:c.2172A>G, NM_001242680.2:c.2172A>T, NM_001242680.1:c.2172A>C, NM_001242680.1:c.2172A>G, NM_001242680.1:c.2172A>T

Select item 14888949253.

rs1488894925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:22315658 (GRCh38)
19:22498460 (GRCh37)
Canonical SPDI:: NC_000019.10:22315657:A:G
Gene:: ZNF729 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.22315658A>G, NC_000019.9:g.22498460A>G, NM_001242680.2:c.2241A>G, NM_001242680.1:c.2241A>G

Select item 14883557634.

rs1488355763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:22316125 (GRCh38)
19:22498927 (GRCh37)
Canonical SPDI:: NC_000019.10:22316124:C:G
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.22316125C>G, NC_000019.9:g.22498927C>G, NM_001242680.2:c.2708C>G, NM_001242680.1:c.2708C>G, NP_001229609.1:p.Thr903Ser

Select item 14874404355.

rs1487440435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:22316197 (GRCh38)
19:22498999 (GRCh37)
Canonical SPDI:: NC_000019.10:22316196:A:G
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.22316197A>G, NC_000019.9:g.22498999A>G, NM_001242680.2:c.2780A>G, NM_001242680.1:c.2780A>G, NP_001229609.1:p.Lys927Arg

Select item 14873908596.

rs1487390859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:22314393 (GRCh38)
19:22497195 (GRCh37)
Canonical SPDI:: NC_000019.10:22314392:G:A
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.22314393G>A, NC_000019.9:g.22497195G>A, NM_001242680.2:c.976G>A, NM_001242680.1:c.976G>A, NP_001229609.1:p.Gly326Ser

Select item 14869319667.

rs1486931966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:22315046 (GRCh38)
19:22497848 (GRCh37)
Canonical SPDI:: NC_000019.10:22315045:C:T
Gene:: ZNF729 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.22315046C>T, NC_000019.9:g.22497848C>T, NM_001242680.2:c.1629C>T, NM_001242680.1:c.1629C>T

Select item 14850809798.

rs1485080979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:22313895 (GRCh38)
19:22496697 (GRCh37)
Canonical SPDI:: NC_000019.10:22313894:A:G
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.22313895A>G, NC_000019.9:g.22496697A>G, NM_001242680.2:c.478A>G, NM_001242680.1:c.478A>G, NP_001229609.1:p.Met160Val

Select item 14840475139.

rs1484047513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:22314307 (GRCh38)
19:22497109 (GRCh37)
Canonical SPDI:: NC_000019.10:22314306:G:A
Gene:: ZNF729 (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)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.22314307G>A, NC_000019.9:g.22497109G>A, NM_001242680.2:c.890G>A, NM_001242680.1:c.890G>A, NP_001229609.1:p.Cys297Tyr

Select item 148311763810.

rs1483117638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:22315848 (GRCh38)
19:22498650 (GRCh37)
Canonical SPDI:: NC_000019.10:22315847:C:T
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.22315848C>T, NC_000019.9:g.22498650C>T, NM_001242680.2:c.2431C>T, NM_001242680.1:c.2431C>T, NP_001229609.1:p.Leu811Phe

Select item 148218424011.

rs1482184240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:22316843 (GRCh38)
19:22499645 (GRCh37)
Canonical SPDI:: NC_000019.10:22316842:T:G
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.22316843T>G, NC_000019.9:g.22499645T>G, NM_001242680.2:c.3426T>G, NM_001242680.1:c.3426T>G, NP_001229609.1:p.Ser1142Arg

Select item 148202235412.

rs1482022354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:22317029 (GRCh38)
19:22499831 (GRCh37)
Canonical SPDI:: NC_000019.10:22317028:T:C
Gene:: ZNF729 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.22317029T>C, NC_000019.9:g.22499831T>C, NM_001242680.2:c.3612T>C, NM_001242680.1:c.3612T>C

Select item 148125855113.

rs1481258551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:22315170 (GRCh38)
19:22497972 (GRCh37)
Canonical SPDI:: NC_000019.10:22315169:T:A
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.22315170T>A, NC_000019.9:g.22497972T>A, NM_001242680.2:c.1753T>A, NM_001242680.1:c.1753T>A, NP_001229609.1:p.Ser585Thr

Select item 148080588014.

rs1480805880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:22317102 (GRCh38)
19:22499904 (GRCh37)
Canonical SPDI:: NC_000019.10:22317101:C:A
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.22317102C>A, NC_000019.9:g.22499904C>A, NM_001242680.2:c.3685C>A, NM_001242680.1:c.3685C>A, NP_001229609.1:p.His1229Asn

Select item 148060736715.

rs1480607367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:22315769 (GRCh38)
19:22498571 (GRCh37)
Canonical SPDI:: NC_000019.10:22315768:G:A,NC_000019.10:22315768:G:T
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.22315769G>A, NC_000019.10:g.22315769G>T, NC_000019.9:g.22498571G>A, NC_000019.9:g.22498571G>T, NM_001242680.2:c.2352G>A, NM_001242680.2:c.2352G>T, NM_001242680.1:c.2352G>A, NM_001242680.1:c.2352G>T, NP_001229609.1:p.Met784Ile, NP_001229609.1:p.Met784Ile

Select item 147882831316.

rs1478828313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:22313691 (GRCh38)
19:22496493 (GRCh37)
Canonical SPDI:: NC_000019.10:22313690:C:T
Gene:: ZNF729 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000019.10:g.22313691C>T, NC_000019.9:g.22496493C>T, NM_001242680.2:c.274C>T, NM_001242680.1:c.274C>T, NP_001229609.1:p.Gln92Ter

Select item 147778052517.

rs1477780525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:22314855 (GRCh38)
19:22497657 (GRCh37)
Canonical SPDI:: NC_000019.10:22314854:G:A,NC_000019.10:22314854:G:C
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.22314855G>A, NC_000019.10:g.22314855G>C, NC_000019.9:g.22497657G>A, NC_000019.9:g.22497657G>C, NM_001242680.2:c.1438G>A, NM_001242680.2:c.1438G>C, NM_001242680.1:c.1438G>A, NM_001242680.1:c.1438G>C, NP_001229609.1:p.Ala480Thr, NP_001229609.1:p.Ala480Pro

Select item 147747533718.

rs1477475337 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:22315137 (GRCh38)
19:22497939 (GRCh37)
Canonical SPDI:: NC_000019.10:22315136:T:
Gene:: ZNF729 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.22315137del, NC_000019.9:g.22497939del, NM_001242680.2:c.1720del, NM_001242680.1:c.1720del, NP_001229609.1:p.Cys574fs

Select item 147744465519.

rs1477444655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:22314539 (GRCh38)
19:22497341 (GRCh37)
Canonical SPDI:: NC_000019.10:22314538:A:G
Gene:: ZNF729 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.22314539A>G, NC_000019.9:g.22497341A>G, NM_001242680.2:c.1122A>G, NM_001242680.1:c.1122A>G

Select item 147737143720.

rs1477371437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:22315929 (GRCh38)
19:22498731 (GRCh37)
Canonical SPDI:: NC_000019.10:22315928:G:T
Gene:: ZNF729 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.22315929G>T, NC_000019.9:g.22498731G>T, NM_001242680.2:c.2512G>T, NM_001242680.1:c.2512G>T, NP_001229609.1:p.Ala838Ser

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