SNP Links for Protein (Select 664806026) - SNP

Links from Protein

Items: 1 to 20 of 563

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Select item 14900155111.

rs1490015511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:2877433 (GRCh38)
19:2877431 (GRCh37)
Canonical SPDI:: NC_000019.10:2877432:T:G
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.2877433T>G, NC_000019.9:g.2877431T>G, NM_024967.3:c.475T>G, NM_024967.2:c.475T>G, NM_024967.1:c.475T>G, NR_145838.2:n.558T>G, NR_145838.1:n.558T>G, NM_001300843.2:c.472T>G, NM_001300843.1:c.472T>G, NP_079243.1:p.Ser159Ala, NP_001287772.1:p.Ser158Ala

Select item 14898487992.

rs1489848799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:2876265 (GRCh38)
19:2876263 (GRCh37)
Canonical SPDI:: NC_000019.10:2876264:G:A,NC_000019.10:2876264:G:C
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.001027/3 (KOREAN)
HGVS:: NC_000019.10:g.2876265G>A, NC_000019.10:g.2876265G>C, NC_000019.9:g.2876263G>A, NC_000019.9:g.2876263G>C, NM_024967.3:c.303G>A, NM_024967.3:c.303G>C, NM_024967.2:c.303G>A, NM_024967.2:c.303G>C, NM_024967.1:c.303G>A, NM_024967.1:c.303G>C, NR_145838.2:n.386G>A, NR_145838.2:n.386G>C, NR_145838.1:n.386G>A, NR_145838.1:n.386G>C, NM_001300843.2:c.303G>A, NM_001300843.2:c.303G>C, NM_001300843.1:c.303G>A, NM_001300843.1:c.303G>C, NP_079243.1:p.Glu101Asp, NP_001287772.1:p.Glu101Asp

Select item 14895249953.

rs1489524995 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAATCCT [Show Flanks]
Chromosome:: 19:2877687 (GRCh38)
19:2877686 (GRCh37)
Canonical SPDI:: NC_000019.10:2877687:AAATCCT:AAATCCTAAATCCT
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATCCTAAATCCT=0.000043/1 (ALFA)
AAATCCT=0.000004/1 (TOPMED)
AAATCCT=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2877688_2877694dup, NC_000019.9:g.2877686_2877692dup, NM_024967.3:c.730_736dup, NM_024967.2:c.730_736dup, NM_024967.1:c.730_736dup, NR_145838.2:n.813_819dup, NR_145838.1:n.813_819dup, NM_001300843.2:c.727_733dup, NM_001300843.1:c.727_733dup, NP_079243.1:p.Phe246Ter, NP_001287772.1:p.Phe245Ter

Select item 14842042124.

rs1484204212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:2878164 (GRCh38)
19:2878162 (GRCh37)
Canonical SPDI:: NC_000019.10:2878163:T:C
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.2878164T>C, NC_000019.9:g.2878162T>C, NM_024967.3:c.1206T>C, NM_024967.2:c.1206T>C, NM_024967.1:c.1206T>C, NR_145838.2:n.1289T>C, NR_145838.1:n.1289T>C, NM_001300843.2:c.1203T>C, NM_001300843.1:c.1203T>C

Select item 14825709455.

rs1482570945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2877808 (GRCh38)
19:2877806 (GRCh37)
Canonical SPDI:: NC_000019.10:2877807:G:T
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.2877808G>T, NC_000019.9:g.2877806G>T, NM_024967.3:c.850G>T, NM_024967.2:c.850G>T, NM_024967.1:c.850G>T, NR_145838.2:n.933G>T, NR_145838.1:n.933G>T, NM_001300843.2:c.847G>T, NM_001300843.1:c.847G>T, NP_079243.1:p.Gly284Trp, NP_001287772.1:p.Gly283Trp

Select item 14823717736.

rs1482371773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:2877933 (GRCh38)
19:2877931 (GRCh37)
Canonical SPDI:: NC_000019.10:2877932:T:C
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.2877933T>C, NC_000019.9:g.2877931T>C, NM_024967.3:c.975T>C, NM_024967.2:c.975T>C, NM_024967.1:c.975T>C, NR_145838.2:n.1058T>C, NR_145838.1:n.1058T>C, NM_001300843.2:c.972T>C, NM_001300843.1:c.972T>C

Select item 14823543277.

rs1482354327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2878143 (GRCh38)
19:2878141 (GRCh37)
Canonical SPDI:: NC_000019.10:2878142:G:A
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2878143G>A, NC_000019.9:g.2878141G>A, NM_024967.3:c.1185G>A, NM_024967.2:c.1185G>A, NM_024967.1:c.1185G>A, NR_145838.2:n.1268G>A, NR_145838.1:n.1268G>A, NM_001300843.2:c.1182G>A, NM_001300843.1:c.1182G>A

Select item 14812826238.

rs1481282623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2878167 (GRCh38)
19:2878165 (GRCh37)
Canonical SPDI:: NC_000019.10:2878166:G:A
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_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.2878167G>A, NC_000019.9:g.2878165G>A, NM_024967.3:c.1209G>A, NM_024967.2:c.1209G>A, NM_024967.1:c.1209G>A, NR_145838.2:n.1292G>A, NR_145838.1:n.1292G>A, NM_001300843.2:c.1206G>A, NM_001300843.1:c.1206G>A

Select item 14810789469.

rs1481078946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2877937 (GRCh38)
19:2877935 (GRCh37)
Canonical SPDI:: NC_000019.10:2877936:C:T
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.2877937C>T, NC_000019.9:g.2877935C>T, NM_024967.3:c.979C>T, NM_024967.2:c.979C>T, NM_024967.1:c.979C>T, NR_145838.2:n.1062C>T, NR_145838.1:n.1062C>T, NM_001300843.2:c.976C>T, NM_001300843.1:c.976C>T, NP_079243.1:p.Pro327Ser, NP_001287772.1:p.Pro326Ser

Select item 148037627910.

rs1480376279 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:2876099 (GRCh38)
19:2876097 (GRCh37)
Canonical SPDI:: NC_000019.10:2876098:A:
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2876099del, NC_000019.9:g.2876097del, NM_024967.3:c.137del, NM_024967.2:c.137del, NM_024967.1:c.137del, NR_145838.2:n.220del, NR_145838.1:n.220del, NM_001300843.2:c.137del, NM_001300843.1:c.137del, NP_079243.1:p.Glu46fs, NP_001287772.1:p.Glu46fs

Select item 148037080111.

rs1480370801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2877638 (GRCh38)
19:2877636 (GRCh37)
Canonical SPDI:: NC_000019.10:2877637:G:T
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.2877638G>T, NC_000019.9:g.2877636G>T, NM_024967.3:c.680G>T, NM_024967.2:c.680G>T, NM_024967.1:c.680G>T, NR_145838.2:n.763G>T, NR_145838.1:n.763G>T, NM_001300843.2:c.677G>T, NM_001300843.1:c.677G>T, NP_079243.1:p.Gly227Val, NP_001287772.1:p.Gly226Val

Select item 147938336612.

rs1479383366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2876220 (GRCh38)
19:2876218 (GRCh37)
Canonical SPDI:: NC_000019.10:2876219:A:G
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2876220A>G, NC_000019.9:g.2876218A>G, NM_024967.3:c.258A>G, NM_024967.2:c.258A>G, NM_024967.1:c.258A>G, NR_145838.2:n.341A>G, NR_145838.1:n.341A>G, NM_001300843.2:c.258A>G, NM_001300843.1:c.258A>G

Select item 147743225013.

rs1477432250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:2878155 (GRCh38)
19:2878153 (GRCh37)
Canonical SPDI:: NC_000019.10:2878154:T:C
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_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.2878155T>C, NC_000019.9:g.2878153T>C, NM_024967.3:c.1197T>C, NM_024967.2:c.1197T>C, NM_024967.1:c.1197T>C, NR_145838.2:n.1280T>C, NR_145838.1:n.1280T>C, NM_001300843.2:c.1194T>C, NM_001300843.1:c.1194T>C

Select item 147582663214.

rs1475826632 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:2877947 (GRCh38)
19:2877946 (GRCh37)
Canonical SPDI:: NC_000019.10:2877947:A:AA
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2877948dup, NC_000019.9:g.2877946dup, NM_024967.3:c.990dup, NM_024967.2:c.990dup, NM_024967.1:c.990dup, NR_145838.2:n.1073dup, NR_145838.1:n.1073dup, NM_001300843.2:c.987dup, NM_001300843.1:c.987dup, NP_079243.1:p.His331fs, NP_001287772.1:p.His330fs

Select item 147186076015.

rs1471860760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2877886 (GRCh38)
19:2877884 (GRCh37)
Canonical SPDI:: NC_000019.10:2877885:A:G
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2877886A>G, NC_000019.9:g.2877884A>G, NM_024967.3:c.928A>G, NM_024967.2:c.928A>G, NM_024967.1:c.928A>G, NR_145838.2:n.1011A>G, NR_145838.1:n.1011A>G, NM_001300843.2:c.925A>G, NM_001300843.1:c.925A>G, NP_079243.1:p.Asn310Asp, NP_001287772.1:p.Asn309Asp

Select item 146966731316.

rs1469667313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:2877350 (GRCh38)
19:2877348 (GRCh37)
Canonical SPDI:: NC_000019.10:2877349:A:C
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,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.2877350A>C, NC_000019.9:g.2877348A>C, NM_024967.3:c.392A>C, NM_024967.2:c.392A>C, NM_024967.1:c.392A>C, NR_145838.2:n.475A>C, NR_145838.1:n.475A>C, NM_001300843.2:c.389A>C, NM_001300843.1:c.389A>C, NP_079243.1:p.Asn131Thr, NP_001287772.1:p.Asn130Thr

Select item 146907596217.

rs1469075962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:2877342 (GRCh38)
19:2877340 (GRCh37)
Canonical SPDI:: NC_000019.10:2877341:G:C,NC_000019.10:2877341:G:T
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.2877342G>C, NC_000019.10:g.2877342G>T, NC_000019.9:g.2877340G>C, NC_000019.9:g.2877340G>T, NM_024967.3:c.384G>C, NM_024967.3:c.384G>T, NM_024967.2:c.384G>C, NM_024967.2:c.384G>T, NM_024967.1:c.384G>C, NM_024967.1:c.384G>T, NR_145838.2:n.467G>C, NR_145838.2:n.467G>T, NR_145838.1:n.467G>C, NR_145838.1:n.467G>T, NM_001300843.2:c.381G>C, NM_001300843.2:c.381G>T, NM_001300843.1:c.381G>C, NM_001300843.1:c.381G>T, NP_079243.1:p.Lys128Asn, NP_079243.1:p.Lys128Asn, NP_001287772.1:p.Lys127Asn, NP_001287772.1:p.Lys127Asn

Select item 146802978418.

rs1468029784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:2877788 (GRCh38)
19:2877786 (GRCh37)
Canonical SPDI:: NC_000019.10:2877787:A:T
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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.2877788A>T, NC_000019.9:g.2877786A>T, NM_024967.3:c.830A>T, NM_024967.2:c.830A>T, NM_024967.1:c.830A>T, NR_145838.2:n.913A>T, NR_145838.1:n.913A>T, NM_001300843.2:c.827A>T, NM_001300843.1:c.827A>T, NP_079243.1:p.His277Leu, NP_001287772.1:p.His276Leu

Select item 146417560419.

rs1464175604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2877744 (GRCh38)
19:2877742 (GRCh37)
Canonical SPDI:: NC_000019.10:2877743:G:A
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2877744G>A, NC_000019.9:g.2877742G>A, NM_024967.3:c.786G>A, NM_024967.2:c.786G>A, NM_024967.1:c.786G>A, NR_145838.2:n.869G>A, NR_145838.1:n.869G>A, NM_001300843.2:c.783G>A, NM_001300843.1:c.783G>A

Select item 146277381320.

rs1462773813 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:2878059 (GRCh38)
19:2878057 (GRCh37)
Canonical SPDI:: NC_000019.10:2878053:AGAGAGA:AGAGA
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.2878055GA[2], NC_000019.9:g.2878053GA[2], NM_024967.3:c.1101_1102del, NM_024967.2:c.1101_1102del, NM_024967.1:c.1101_1102del, NR_145838.2:n.1180GA[2], NR_145838.1:n.1180GA[2], NM_001300843.2:c.1098_1099del, NM_001300843.1:c.1098_1099del, NP_079243.1:p.Lys368fs, NP_001287772.1:p.Lys367fs

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