SNP Links for Protein (Select 428982004) - SNP

Links from Protein

Items: 1 to 20 of 848

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Select item 14884886041.

rs1488488604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11949651 (GRCh38)
19:12060466 (GRCh37)
Canonical SPDI:: NC_000019.10:11949650:A:G
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_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.11949651A>G, NC_000019.9:g.12060466A>G, NM_144566.3:c.1627A>G, NM_144566.2:c.1627A>G, NM_001271848.2:c.1636A>G, NM_001271848.1:c.1636A>G, NM_001271847.1:c.1681A>G, NP_653167.1:p.Lys543Glu, NP_001258777.1:p.Lys546Glu

Select item 14883703392.

rs1488370339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:11950087 (GRCh38)
19:12060902 (GRCh37)
Canonical SPDI:: NC_000019.10:11950086:C:A,NC_000019.10:11950086:C:T
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.11950087C>A, NC_000019.10:g.11950087C>T, NC_000019.9:g.12060902C>A, NC_000019.9:g.12060902C>T, NM_144566.3:c.2063C>A, NM_144566.3:c.2063C>T, NM_144566.2:c.2063C>A, NM_144566.2:c.2063C>T, NM_001271848.2:c.2072C>A, NM_001271848.2:c.2072C>T, NM_001271848.1:c.2072C>A, NM_001271848.1:c.2072C>T, NM_001271847.1:c.2117C>A, NM_001271847.1:c.2117C>T, NP_653167.1:p.Ala688Asp, NP_653167.1:p.Ala688Val, NP_001258777.1:p.Ala691Asp, NP_001258777.1:p.Ala691Val

Select item 14868509123.

rs1486850912 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11949534 (GRCh38)
19:12060349 (GRCh37)
Canonical SPDI:: NC_000019.10:11949533:G:A
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_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)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.11949534G>A, NC_000019.9:g.12060349G>A, NM_144566.3:c.1510G>A, NM_144566.2:c.1510G>A, NM_001271848.2:c.1519G>A, NM_001271848.1:c.1519G>A, NM_001271847.1:c.1564G>A, NP_653167.1:p.Gly504Arg, NP_001258777.1:p.Gly507Arg

Select item 14849905024.

rs1484990502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11948788 (GRCh38)
19:12059603 (GRCh37)
Canonical SPDI:: NC_000019.10:11948787:G:A
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.11948788G>A, NC_000019.9:g.12059603G>A, NM_144566.3:c.764G>A, NM_144566.2:c.764G>A, NM_001271848.2:c.773G>A, NM_001271848.1:c.773G>A, NM_001271847.1:c.818G>A, NP_653167.1:p.Cys255Tyr, NP_001258777.1:p.Cys258Tyr

Select item 14837879615.

rs1483787961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:11948461 (GRCh38)
19:12059276 (GRCh37)
Canonical SPDI:: NC_000019.10:11948460:G:A,NC_000019.10:11948460:G:C,NC_000019.10:11948460:G:T
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00022/1 (Estonian)
HGVS:: NC_000019.10:g.11948461G>A, NC_000019.10:g.11948461G>C, NC_000019.10:g.11948461G>T, NC_000019.9:g.12059276G>A, NC_000019.9:g.12059276G>C, NC_000019.9:g.12059276G>T, NM_144566.3:c.437G>A, NM_144566.3:c.437G>C, NM_144566.3:c.437G>T, NM_144566.2:c.437G>A, NM_144566.2:c.437G>C, NM_144566.2:c.437G>T, NM_001271848.2:c.446G>A, NM_001271848.2:c.446G>C, NM_001271848.2:c.446G>T, NM_001271848.1:c.446G>A, NM_001271848.1:c.446G>C, NM_001271848.1:c.446G>T, NM_001271847.1:c.491G>A, NM_001271847.1:c.491G>C, NM_001271847.1:c.491G>T, NP_653167.1:p.Arg146Lys, NP_653167.1:p.Arg146Thr, NP_653167.1:p.Arg146Ile, NP_001258777.1:p.Arg149Lys, NP_001258777.1:p.Arg149Thr, NP_001258777.1:p.Arg149Ile

Select item 14828048626.

rs1482804862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:11949383 (GRCh38)
19:12060198 (GRCh37)
Canonical SPDI:: NC_000019.10:11949382:A:C
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11949383A>C, NC_000019.9:g.12060198A>C, NM_144566.3:c.1359A>C, NM_144566.2:c.1359A>C, NM_001271848.2:c.1368A>C, NM_001271848.1:c.1368A>C, NM_001271847.1:c.1413A>C, NP_653167.1:p.Lys453Asn, NP_001258777.1:p.Lys456Asn

Select item 14806548007.

rs1480654800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:11950238 (GRCh38)
19:12061053 (GRCh37)
Canonical SPDI:: NC_000019.10:11950237:G:A
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_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 (GnomAD_exomes)
A=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.11950238G>A, NC_000019.9:g.12061053G>A, NM_144566.3:c.2214G>A, NM_144566.2:c.2214G>A, NM_001271848.2:c.2223G>A, NM_001271848.1:c.2223G>A, NM_001271847.1:c.2268G>A

Select item 14796259868.

rs1479625986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11949415 (GRCh38)
19:12060230 (GRCh37)
Canonical SPDI:: NC_000019.10:11949414:A:G
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.11949415A>G, NC_000019.9:g.12060230A>G, NM_144566.3:c.1391A>G, NM_144566.2:c.1391A>G, NM_001271848.2:c.1400A>G, NM_001271848.1:c.1400A>G, NM_001271847.1:c.1445A>G, NP_653167.1:p.His464Arg, NP_001258777.1:p.His467Arg

Select item 14790315769.

rs1479031576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11950115 (GRCh38)
19:12060930 (GRCh37)
Canonical SPDI:: NC_000019.10:11950114:A:G
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.11950115A>G, NC_000019.9:g.12060930A>G, NM_144566.3:c.2091A>G, NM_144566.2:c.2091A>G, NM_001271848.2:c.2100A>G, NM_001271848.1:c.2100A>G, NM_001271847.1:c.2145A>G

Select item 147839618710.

rs1478396187 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11949074 (GRCh38)
19:12059889 (GRCh37)
Canonical SPDI:: NC_000019.10:11949073:A:G
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.11949074A>G, NC_000019.9:g.12059889A>G, NM_144566.3:c.1050A>G, NM_144566.2:c.1050A>G, NM_001271848.2:c.1059A>G, NM_001271848.1:c.1059A>G, NM_001271847.1:c.1104A>G

Select item 147709730811.

rs1477097308 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:11950092 (GRCh38)
19:12060908 (GRCh37)
Canonical SPDI:: NC_000019.10:11950092:TT:TTT
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11950094dup, NC_000019.9:g.12060909dup, NM_144566.3:c.2070dup, NM_144566.2:c.2070dup, NM_001271848.2:c.2079dup, NM_001271848.1:c.2079dup, NM_001271847.1:c.2124dup, NP_653167.1:p.Leu691fs, NP_001258777.1:p.Leu694fs

Select item 147677636312.

rs1476776363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:11948338 (GRCh38)
19:12059153 (GRCh37)
Canonical SPDI:: NC_000019.10:11948337:C:G
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11948338C>G, NC_000019.9:g.12059153C>G, NM_144566.3:c.314C>G, NM_144566.2:c.314C>G, NM_001271848.2:c.323C>G, NM_001271848.1:c.323C>G, NM_001271847.1:c.368C>G, NP_653167.1:p.Thr105Ser, NP_001258777.1:p.Thr108Ser

Select item 147657069913.

rs1476570699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:11950048 (GRCh38)
19:12060863 (GRCh37)
Canonical SPDI:: NC_000019.10:11950047:C:A,NC_000019.10:11950047:C:G
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.11950048C>A, NC_000019.10:g.11950048C>G, NC_000019.9:g.12060863C>A, NC_000019.9:g.12060863C>G, NM_144566.3:c.2024C>A, NM_144566.3:c.2024C>G, NM_144566.2:c.2024C>A, NM_144566.2:c.2024C>G, NM_001271848.2:c.2033C>A, NM_001271848.2:c.2033C>G, NM_001271848.1:c.2033C>A, NM_001271848.1:c.2033C>G, NM_001271847.1:c.2078C>A, NM_001271847.1:c.2078C>G, NP_653167.1:p.Pro675His, NP_653167.1:p.Pro675Arg, NP_001258777.1:p.Pro678His, NP_001258777.1:p.Pro678Arg

Select item 147626849914.

rs1476268499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:11949750 (GRCh38)
19:12060565 (GRCh37)
Canonical SPDI:: NC_000019.10:11949749:G:T
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11949750G>T, NC_000019.9:g.12060565G>T, NM_144566.3:c.1726G>T, NM_144566.2:c.1726G>T, NM_001271848.2:c.1735G>T, NM_001271848.1:c.1735G>T, NM_001271847.1:c.1780G>T, NP_653167.1:p.Ala576Ser, NP_001258777.1:p.Ala579Ser

Select item 147546044515.

rs1475460445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:11949832 (GRCh38)
19:12060647 (GRCh37)
Canonical SPDI:: NC_000019.10:11949831:G:C
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000071/2 (TOMMO)
HGVS:: NC_000019.10:g.11949832G>C, NC_000019.9:g.12060647G>C, NM_144566.3:c.1808G>C, NM_144566.2:c.1808G>C, NM_001271848.2:c.1817G>C, NM_001271848.1:c.1817G>C, NM_001271847.1:c.1862G>C, NP_653167.1:p.Cys603Ser, NP_001258777.1:p.Cys606Ser

Select item 147300208516.

rs1473002085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11949102 (GRCh38)
19:12059917 (GRCh37)
Canonical SPDI:: NC_000019.10:11949101:A:G
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.11949102A>G, NC_000019.9:g.12059917A>G, NM_144566.3:c.1078A>G, NM_144566.2:c.1078A>G, NM_001271848.2:c.1087A>G, NM_001271848.1:c.1087A>G, NM_001271847.1:c.1132A>G, NP_653167.1:p.Arg360Gly, NP_001258777.1:p.Arg363Gly

Select item 147136801017.

rs1471368010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:11950179 (GRCh38)
19:12060994 (GRCh37)
Canonical SPDI:: NC_000019.10:11950178:T:G
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11950179T>G, NC_000019.9:g.12060994T>G, NM_144566.3:c.2155T>G, NM_144566.2:c.2155T>G, NM_001271848.2:c.2164T>G, NM_001271848.1:c.2164T>G, NM_001271847.1:c.2209T>G, NP_653167.1:p.Leu719Val, NP_001258777.1:p.Leu722Val

Select item 146967699418.

rs1469676994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11949914 (GRCh38)
19:12060729 (GRCh37)
Canonical SPDI:: NC_000019.10:11949913:A:G
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,intron_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.11949914A>G, NC_000019.9:g.12060729A>G, NM_144566.3:c.1890A>G, NM_144566.2:c.1890A>G, NM_001271848.2:c.1899A>G, NM_001271848.1:c.1899A>G, NM_001271847.1:c.1944A>G

Select item 146922884319.

rs1469228843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:11948962 (GRCh38)
19:12059777 (GRCh37)
Canonical SPDI:: NC_000019.10:11948961:A:G
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.11948962A>G, NC_000019.9:g.12059777A>G, NM_144566.3:c.938A>G, NM_144566.2:c.938A>G, NM_001271848.2:c.947A>G, NM_001271848.1:c.947A>G, NM_001271847.1:c.992A>G, NP_653167.1:p.Lys313Arg, NP_001258777.1:p.Lys316Arg

Select item 146882657820.

rs1468826578 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:11949741 (GRCh38)
19:12060556 (GRCh37)
Canonical SPDI:: NC_000019.10:11949740:TT:T
Gene:: ZNF69 (Varview), ZNF700 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11949742del, NC_000019.9:g.12060557del, NM_144566.3:c.1718del, NM_144566.2:c.1718del, NM_001271848.2:c.1727del, NM_001271848.1:c.1727del, NM_001271847.1:c.1772del, NP_653167.1:p.Phe573fs, NP_001258777.1:p.Phe576fs

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