SNP Links for Protein (Select 38045952) - SNP

Links from Protein

Items: 1 to 20 of 638

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Select item 14907273581.

rs1490727358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:19711988 (GRCh38)
19:19822797 (GRCh37)
Canonical SPDI:: NC_000019.10:19711987:T:G
Gene:: ZNF14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19711988T>G, NC_000019.9:g.19822797T>G, NM_021030.3:c.1293A>C, NM_021030.2:c.1293A>C

Select item 14906424242.

rs1490642424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:19711639 (GRCh38)
19:19822448 (GRCh37)
Canonical SPDI:: NC_000019.10:19711638:A:G,NC_000019.10:19711638:A:T
Gene:: ZNF14 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.19711639A>G, NC_000019.10:g.19711639A>T, NC_000019.9:g.19822448A>G, NC_000019.9:g.19822448A>T, NM_021030.3:c.1642T>C, NM_021030.3:c.1642T>A, NM_021030.2:c.1642T>C, NM_021030.2:c.1642T>A, NP_066358.2:p.Leu548Met

Select item 14881949913.

rs1488194991 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:19711365 (GRCh38)
19:19822174 (GRCh37)
Canonical SPDI:: NC_000019.10:19711364:CCC:CC
Gene:: ZNF14 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19711367del, NC_000019.9:g.19822176del, NM_021030.3:c.1916del, NM_021030.2:c.1916del, NP_066358.2:p.Gly639fs

Select item 14880648914.

rs1488064891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:19711620 (GRCh38)
19:19822429 (GRCh37)
Canonical SPDI:: NC_000019.10:19711619:G:T
Gene:: ZNF14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19711620G>T, NC_000019.9:g.19822429G>T, NM_021030.3:c.1661C>A, NM_021030.2:c.1661C>A, NP_066358.2:p.Thr554Asn

Select item 14880025715.

rs1488002571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19712344 (GRCh38)
19:19823153 (GRCh37)
Canonical SPDI:: NC_000019.10:19712343:C:T
Gene:: ZNF14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19712344C>T, NC_000019.9:g.19823153C>T, NM_021030.3:c.937G>A, NM_021030.2:c.937G>A, NP_066358.2:p.Gly313Arg

Select item 14831850216.

rs1483185021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:19712091 (GRCh38)
19:19822900 (GRCh37)
Canonical SPDI:: NC_000019.10:19712090:T:A,NC_000019.10:19712090:T:C
Gene:: ZNF14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.19712091T>A, NC_000019.10:g.19712091T>C, NC_000019.9:g.19822900T>A, NC_000019.9:g.19822900T>C, NM_021030.3:c.1190A>T, NM_021030.3:c.1190A>G, NM_021030.2:c.1190A>T, NM_021030.2:c.1190A>G, NP_066358.2:p.His397Leu, NP_066358.2:p.His397Arg

Select item 14817361437.

rs1481736143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19712598 (GRCh38)
19:19823407 (GRCh37)
Canonical SPDI:: NC_000019.10:19712597:C:T
Gene:: ZNF14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000743/12 (TOMMO)
HGVS:: NC_000019.10:g.19712598C>T, NC_000019.9:g.19823407C>T, NM_021030.3:c.683G>A, NM_021030.2:c.683G>A, NP_066358.2:p.Cys228Tyr

Select item 14808311988.

rs1480831198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:19711873 (GRCh38)
19:19822682 (GRCh37)
Canonical SPDI:: NC_000019.10:19711872:T:C,NC_000019.10:19711872:T:G
Gene:: ZNF14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.19711873T>C, NC_000019.10:g.19711873T>G, NC_000019.9:g.19822682T>C, NC_000019.9:g.19822682T>G, NM_021030.3:c.1408A>G, NM_021030.3:c.1408A>C, NM_021030.2:c.1408A>G, NM_021030.2:c.1408A>C, NP_066358.2:p.Thr470Ala, NP_066358.2:p.Thr470Pro

Select item 14787336999.

rs1478733699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19712765 (GRCh38)
19:19823574 (GRCh37)
Canonical SPDI:: NC_000019.10:19712764:T:C
Gene:: ZNF14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.19712765T>C, NC_000019.9:g.19823574T>C, NM_021030.3:c.516A>G, NM_021030.2:c.516A>G

Select item 147461084910.

rs1474610849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19712470 (GRCh38)
19:19823279 (GRCh37)
Canonical SPDI:: NC_000019.10:19712469:T:C
Gene:: ZNF14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.19712470T>C, NC_000019.9:g.19823279T>C, NM_021030.3:c.811A>G, NM_021030.2:c.811A>G, NP_066358.2:p.Arg271Gly

Select item 147323324511.

rs1473233245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19714149 (GRCh38)
19:19824958 (GRCh37)
Canonical SPDI:: NC_000019.10:19714148:T:C
Gene:: ZNF14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19714149T>C, NC_000019.9:g.19824958T>C, NM_021030.3:c.133A>G, NM_021030.2:c.133A>G, NP_066358.2:p.Lys45Glu

Select item 147315540112.

rs1473155401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19711558 (GRCh38)
19:19822367 (GRCh37)
Canonical SPDI:: NC_000019.10:19711557:G:A
Gene:: ZNF14 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.19711558G>A, NC_000019.9:g.19822367G>A, NM_021030.3:c.1723C>T, NM_021030.2:c.1723C>T, NP_066358.2:p.Arg575Ter

Select item 147019327213.

rs1470193272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:19712515 (GRCh38)
19:19823324 (GRCh37)
Canonical SPDI:: NC_000019.10:19712514:A:G
Gene:: ZNF14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19712515A>G, NC_000019.9:g.19823324A>G, NM_021030.3:c.766T>C, NM_021030.2:c.766T>C, NP_066358.2:p.Cys256Arg

Select item 147015374814.

rs1470153748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:19712633 (GRCh38)
19:19823442 (GRCh37)
Canonical SPDI:: NC_000019.10:19712632:A:C,NC_000019.10:19712632:A:G
Gene:: ZNF14 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.19712633A>C, NC_000019.10:g.19712633A>G, NC_000019.9:g.19823442A>C, NC_000019.9:g.19823442A>G, NM_021030.3:c.648T>G, NM_021030.3:c.648T>C, NM_021030.2:c.648T>G, NM_021030.2:c.648T>C

Select item 146701453715.

rs1467014537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:19711488 (GRCh38)
19:19822297 (GRCh37)
Canonical SPDI:: NC_000019.10:19711487:A:C
Gene:: ZNF14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00014/4 (TOMMO)
HGVS:: NC_000019.10:g.19711488A>C, NC_000019.9:g.19822297A>C, NM_021030.3:c.1793T>G, NM_021030.2:c.1793T>G, NP_066358.2:p.Phe598Cys

Select item 146441442616.

rs1464414426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:19711815 (GRCh38)
19:19822624 (GRCh37)
Canonical SPDI:: NC_000019.10:19711814:G:C
Gene:: ZNF14 (Varview)
Functional Consequence:: 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.19711815G>C, NC_000019.9:g.19822624G>C, NM_021030.3:c.1466C>G, NM_021030.2:c.1466C>G, NP_066358.2:p.Ser489Cys

Select item 146423040117.

rs1464230401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:19711711 (GRCh38)
19:19822520 (GRCh37)
Canonical SPDI:: NC_000019.10:19711710:T:C
Gene:: ZNF14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19711711T>C, NC_000019.9:g.19822520T>C, NM_021030.3:c.1570A>G, NM_021030.2:c.1570A>G, NP_066358.2:p.Ile524Val

Select item 146115481518.

rs1461154815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:19712846 (GRCh38)
19:19823655 (GRCh37)
Canonical SPDI:: NC_000019.10:19712845:T:G
Gene:: ZNF14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19712846T>G, NC_000019.9:g.19823655T>G, NM_021030.3:c.435A>C, NM_021030.2:c.435A>C

Select item 145510328019.

rs1455103280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:19711741 (GRCh38)
19:19822550 (GRCh37)
Canonical SPDI:: NC_000019.10:19711740:A:C
Gene:: ZNF14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19711741A>C, NC_000019.9:g.19822550A>C, NM_021030.3:c.1540T>G, NM_021030.2:c.1540T>G, NP_066358.2:p.Phe514Val

Select item 145500083820.

rs1455000838 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:19714375 (GRCh38)
19:19825184 (GRCh37)
Canonical SPDI:: NC_000019.10:19714374:TTTTT:TTTT
Gene:: ZNF14 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.19714379del, NC_000019.9:g.19825188del, NM_021030.3:c.116del, NM_021030.2:c.116del, NP_066358.2:p.Asn39fs

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Items: 1 to 20 of 638

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