SNP Links for Gene (Select 146542) - SNP

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Select item 14915226041.

rs1491522604 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:30569280 (GRCh38)
16:30580601 (GRCh37)
Canonical SPDI:: NC_000016.10:30569279:AT:
Gene:: ZNF688 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00006/1 (ALFA)
HGVS:: NC_000016.10:g.30569280_30569281del, NC_000016.9:g.30580601_30580602del

Select item 14914844122.

rs1491484412 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AAGATTTTTTTTT
Chromosome:: no mapping
Canonical SPDI:

Select item 14914428913.

rs1491442891 has merged into rs10553018 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 16:30569292 (GRCh38)
16:30580613 (GRCh37)
Canonical SPDI:: NC_000016.10:30569280:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:30569280:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:30569280:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:30569280:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:30569280:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:30569280:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:30569280:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:30569280:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569280:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF688 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4852/2430 (1000Genomes)
HGVS:: NC_000016.10:g.30569292_30569298del, NC_000016.10:g.30569294_30569298del, NC_000016.10:g.30569295_30569298del, NC_000016.10:g.30569296_30569298del, NC_000016.10:g.30569297_30569298del, NC_000016.10:g.30569298del, NC_000016.10:g.30569298dup, NC_000016.10:g.30569297_30569298dup, NC_000016.10:g.30569296_30569298dup, NC_000016.9:g.30580613_30580619del, NC_000016.9:g.30580615_30580619del, NC_000016.9:g.30580616_30580619del, NC_000016.9:g.30580617_30580619del, NC_000016.9:g.30580618_30580619del, NC_000016.9:g.30580619del, NC_000016.9:g.30580619dup, NC_000016.9:g.30580618_30580619dup, NC_000016.9:g.30580617_30580619dup

Select item 14914406494.

rs1491440649 has merged into rs59531748 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:30569686 (GRCh38)
16:30581007 (GRCh37)
Canonical SPDI:: NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF688 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30569686_30569703del, NC_000016.10:g.30569687_30569703del, NC_000016.10:g.30569688_30569703del, NC_000016.10:g.30569689_30569703del, NC_000016.10:g.30569690_30569703del, NC_000016.10:g.30569691_30569703del, NC_000016.10:g.30569692_30569703del, NC_000016.10:g.30569693_30569703del, NC_000016.10:g.30569694_30569703del, NC_000016.10:g.30569695_30569703del, NC_000016.10:g.30569696_30569703del, NC_000016.10:g.30569697_30569703del, NC_000016.10:g.30569698_30569703del, NC_000016.10:g.30569699_30569703del, NC_000016.10:g.30569700_30569703del, NC_000016.10:g.30569701_30569703del, NC_000016.10:g.30569702_30569703del, NC_000016.10:g.30569703del, NC_000016.10:g.30569703dup, NC_000016.10:g.30569702_30569703dup, NC_000016.10:g.30569701_30569703dup, NC_000016.10:g.30569700_30569703dup, NC_000016.10:g.30569699_30569703dup, NC_000016.10:g.30569698_30569703dup, NC_000016.10:g.30569697_30569703dup, NC_000016.10:g.30569696_30569703dup, NC_000016.10:g.30569695_30569703dup, NC_000016.10:g.30569694_30569703dup, NC_000016.10:g.30569693_30569703dup, NC_000016.10:g.30569690_30569703dup, NC_000016.10:g.30569703_30569704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.30581007_30581024del, NC_000016.9:g.30581008_30581024del, NC_000016.9:g.30581009_30581024del, NC_000016.9:g.30581010_30581024del, NC_000016.9:g.30581011_30581024del, NC_000016.9:g.30581012_30581024del, NC_000016.9:g.30581013_30581024del, NC_000016.9:g.30581014_30581024del, NC_000016.9:g.30581015_30581024del, NC_000016.9:g.30581016_30581024del, NC_000016.9:g.30581017_30581024del, NC_000016.9:g.30581018_30581024del, NC_000016.9:g.30581019_30581024del, NC_000016.9:g.30581020_30581024del, NC_000016.9:g.30581021_30581024del, NC_000016.9:g.30581022_30581024del, NC_000016.9:g.30581023_30581024del, NC_000016.9:g.30581024del, NC_000016.9:g.30581024dup, NC_000016.9:g.30581023_30581024dup, NC_000016.9:g.30581022_30581024dup, NC_000016.9:g.30581021_30581024dup, NC_000016.9:g.30581020_30581024dup, NC_000016.9:g.30581019_30581024dup, NC_000016.9:g.30581018_30581024dup, NC_000016.9:g.30581017_30581024dup, NC_000016.9:g.30581016_30581024dup, NC_000016.9:g.30581015_30581024dup, NC_000016.9:g.30581014_30581024dup, NC_000016.9:g.30581011_30581024dup, NC_000016.9:g.30581024_30581025insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14904260995.

rs1490426099 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:30570304 (GRCh38)
16:30581625 (GRCh37)
Canonical SPDI:: NC_000016.10:30570303:GGGG:GGG
Gene:: ZNF688 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30570307del, NC_000016.9:g.30581628del, NM_145271.4:c.443del, NM_145271.3:c.443del, XM_005255139.3:c.212del, XM_005255139.2:c.212del, XM_005255139.1:c.212del, XM_005255140.3:c.212del, XM_005255140.2:c.212del, XM_005255140.1:c.212del, NM_001024683.2:c.401del, NM_001024683.1:c.401del, XM_047433654.1:c.401del, XM_047433653.1:c.329del, NP_660314.1:p.Pro148fs, XP_005255196.1:p.Pro71fs, XP_005255197.1:p.Pro71fs, NP_001019854.1:p.Pro134fs, XP_047289610.1:p.Pro134fs, XP_047289609.1:p.Pro110fs

Select item 14903670246.

rs1490367024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30570094 (GRCh38)
16:30581415 (GRCh37)
Canonical SPDI:: NC_000016.10:30570093:A:G
Gene:: ZNF688 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30570094A>G, NC_000016.9:g.30581415A>G, NM_145271.4:c.653T>C, NM_145271.3:c.653T>C, XM_005255139.3:c.422T>C, XM_005255139.2:c.422T>C, XM_005255139.1:c.422T>C, XM_005255140.3:c.422T>C, XM_005255140.2:c.422T>C, XM_005255140.1:c.422T>C, NM_001024683.2:c.611T>C, NM_001024683.1:c.611T>C, XM_047433654.1:c.611T>C, XM_047433653.1:c.539T>C, NP_660314.1:p.Met218Thr, XP_005255196.1:p.Met141Thr, XP_005255197.1:p.Met141Thr, NP_001019854.1:p.Met204Thr, XP_047289610.1:p.Met204Thr, XP_047289609.1:p.Met180Thr

Select item 14901577377.

rs1490157737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30570317 (GRCh38)
16:30581638 (GRCh37)
Canonical SPDI:: NC_000016.10:30570316:T:C
Gene:: ZNF688 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30570317T>C, NC_000016.9:g.30581638T>C, NM_145271.4:c.430A>G, NM_145271.3:c.430A>G, XM_005255139.3:c.199A>G, XM_005255139.2:c.199A>G, XM_005255139.1:c.199A>G, XM_005255140.3:c.199A>G, XM_005255140.2:c.199A>G, XM_005255140.1:c.199A>G, NM_001024683.2:c.388A>G, NM_001024683.1:c.388A>G, XM_047433654.1:c.388A>G, XM_047433653.1:c.316A>G, NP_660314.1:p.Ile144Val, XP_005255196.1:p.Ile67Val, XP_005255197.1:p.Ile67Val, NP_001019854.1:p.Ile130Val, XP_047289610.1:p.Ile130Val, XP_047289609.1:p.Ile106Val

Select item 14899947068.

rs1489994706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30570771 (GRCh38)
16:30582092 (GRCh37)
Canonical SPDI:: NC_000016.10:30570770:G:T
Gene:: ZNF688 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000016.10:g.30570771G>T, NC_000016.9:g.30582092G>T

Select item 14896725909.

rs1489672590 has merged into rs59531748 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:30569686 (GRCh38)
16:30581007 (GRCh37)
Canonical SPDI:: NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:30569676:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF688 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30569686_30569703del, NC_000016.10:g.30569687_30569703del, NC_000016.10:g.30569688_30569703del, NC_000016.10:g.30569689_30569703del, NC_000016.10:g.30569690_30569703del, NC_000016.10:g.30569691_30569703del, NC_000016.10:g.30569692_30569703del, NC_000016.10:g.30569693_30569703del, NC_000016.10:g.30569694_30569703del, NC_000016.10:g.30569695_30569703del, NC_000016.10:g.30569696_30569703del, NC_000016.10:g.30569697_30569703del, NC_000016.10:g.30569698_30569703del, NC_000016.10:g.30569699_30569703del, NC_000016.10:g.30569700_30569703del, NC_000016.10:g.30569701_30569703del, NC_000016.10:g.30569702_30569703del, NC_000016.10:g.30569703del, NC_000016.10:g.30569703dup, NC_000016.10:g.30569702_30569703dup, NC_000016.10:g.30569701_30569703dup, NC_000016.10:g.30569700_30569703dup, NC_000016.10:g.30569699_30569703dup, NC_000016.10:g.30569698_30569703dup, NC_000016.10:g.30569697_30569703dup, NC_000016.10:g.30569696_30569703dup, NC_000016.10:g.30569695_30569703dup, NC_000016.10:g.30569694_30569703dup, NC_000016.10:g.30569693_30569703dup, NC_000016.10:g.30569690_30569703dup, NC_000016.10:g.30569703_30569704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.30581007_30581024del, NC_000016.9:g.30581008_30581024del, NC_000016.9:g.30581009_30581024del, NC_000016.9:g.30581010_30581024del, NC_000016.9:g.30581011_30581024del, NC_000016.9:g.30581012_30581024del, NC_000016.9:g.30581013_30581024del, NC_000016.9:g.30581014_30581024del, NC_000016.9:g.30581015_30581024del, NC_000016.9:g.30581016_30581024del, NC_000016.9:g.30581017_30581024del, NC_000016.9:g.30581018_30581024del, NC_000016.9:g.30581019_30581024del, NC_000016.9:g.30581020_30581024del, NC_000016.9:g.30581021_30581024del, NC_000016.9:g.30581022_30581024del, NC_000016.9:g.30581023_30581024del, NC_000016.9:g.30581024del, NC_000016.9:g.30581024dup, NC_000016.9:g.30581023_30581024dup, NC_000016.9:g.30581022_30581024dup, NC_000016.9:g.30581021_30581024dup, NC_000016.9:g.30581020_30581024dup, NC_000016.9:g.30581019_30581024dup, NC_000016.9:g.30581018_30581024dup, NC_000016.9:g.30581017_30581024dup, NC_000016.9:g.30581016_30581024dup, NC_000016.9:g.30581015_30581024dup, NC_000016.9:g.30581014_30581024dup, NC_000016.9:g.30581011_30581024dup, NC_000016.9:g.30581024_30581025insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148923642710.

rs1489236427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30570179 (GRCh38)
16:30581500 (GRCh37)
Canonical SPDI:: NC_000016.10:30570178:G:A
Gene:: ZNF688 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.30570179G>A, NC_000016.9:g.30581500G>A, NM_145271.4:c.568C>T, NM_145271.3:c.568C>T, XM_005255139.3:c.337C>T, XM_005255139.2:c.337C>T, XM_005255139.1:c.337C>T, XM_005255140.3:c.337C>T, XM_005255140.2:c.337C>T, XM_005255140.1:c.337C>T, NM_001024683.2:c.526C>T, NM_001024683.1:c.526C>T, XM_047433654.1:c.526C>T, XM_047433653.1:c.454C>T, NP_660314.1:p.Arg190Cys, XP_005255196.1:p.Arg113Cys, XP_005255197.1:p.Arg113Cys, NP_001019854.1:p.Arg176Cys, XP_047289610.1:p.Arg176Cys, XP_047289609.1:p.Arg152Cys

Select item 148884166611.

rs1488841666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:30573520 (GRCh38)
16:30584841 (GRCh37)
Canonical SPDI:: NC_000016.10:30573519:G:A,NC_000016.10:30573519:G:T
Gene:: ZNF688 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30573520G>A, NC_000016.10:g.30573520G>T, NC_000016.9:g.30584841G>A, NC_000016.9:g.30584841G>T, XM_047433654.1:c.-1245C>T, XM_047433654.1:c.-1245C>A

Select item 148830654612.

rs1488306546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30573145 (GRCh38)
16:30584466 (GRCh37)
Canonical SPDI:: NC_000016.10:30573144:G:A
Gene:: ZNF688 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.30573145G>A, NC_000016.9:g.30584466G>A, XM_047433654.1:c.-870C>T

Select item 148803098413.

rs1488030984 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:30570555 (GRCh38)
16:30581876 (GRCh37)
Canonical SPDI:: NC_000016.10:30570554:T:A
Gene:: ZNF688 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30570555T>A, NC_000016.9:g.30581876T>A

Select item 148769618414.

rs1487696184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30571511 (GRCh38)
16:30582832 (GRCh37)
Canonical SPDI:: NC_000016.10:30571510:C:T
Gene:: ZNF688 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.30571511C>T, NC_000016.9:g.30582832C>T, NM_145271.4:c.119G>A, NM_145271.3:c.119G>A, XM_047433653.1:c.119G>A, NP_660314.1:p.Trp40Ter, XP_047289609.1:p.Trp40Ter

Select item 148768408715.

rs1487684087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30571817 (GRCh38)
16:30583138 (GRCh37)
Canonical SPDI:: NC_000016.10:30571816:T:C
Gene:: ZNF688 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30571817T>C, NC_000016.9:g.30583138T>C, NM_145271.3:c.-188A>G

Select item 148657593916.

rs1486575939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30572691 (GRCh38)
16:30584012 (GRCh37)
Canonical SPDI:: NC_000016.10:30572690:C:T
Gene:: ZNF688 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.30572691C>T, NC_000016.9:g.30584012C>T, XM_047433654.1:c.-416G>A

Select item 148603130617.

rs1486031306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:30571561 (GRCh38)
16:30582882 (GRCh37)
Canonical SPDI:: NC_000016.10:30571560:G:A,NC_000016.10:30571560:G:C
Gene:: ZNF688 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.30571561G>A, NC_000016.10:g.30571561G>C, NC_000016.9:g.30582882G>A, NC_000016.9:g.30582882G>C, NM_145271.4:c.69C>T, NM_145271.4:c.69C>G, NM_145271.3:c.69C>T, NM_145271.3:c.69C>G, XM_047433653.1:c.69C>T, XM_047433653.1:c.69C>G

Select item 148491258718.

rs1484912587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:30570122 (GRCh38)
16:30581443 (GRCh37)
Canonical SPDI:: NC_000016.10:30570121:G:T
Gene:: ZNF688 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.30570122G>T, NC_000016.9:g.30581443G>T, NM_145271.4:c.625C>A, NM_145271.3:c.625C>A, XM_005255139.3:c.394C>A, XM_005255139.2:c.394C>A, XM_005255139.1:c.394C>A, XM_005255140.3:c.394C>A, XM_005255140.2:c.394C>A, XM_005255140.1:c.394C>A, NM_001024683.2:c.583C>A, NM_001024683.1:c.583C>A, XM_047433654.1:c.583C>A, XM_047433653.1:c.511C>A

Select item 148457955319.

rs1484579553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30574040 (GRCh38)
16:30585361 (GRCh37)
Canonical SPDI:: NC_000016.10:30574039:A:G
Gene:: ZNF688 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_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_000016.10:g.30574040A>G, NC_000016.9:g.30585361A>G

Select item 148454751720.

rs1484547517 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:30573381 (GRCh38)
16:30584702 (GRCh37)
Canonical SPDI:: NC_000016.10:30573380:T:G
Gene:: ZNF688 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30573381T>G, NC_000016.9:g.30584702T>G, XM_047433654.1:c.-1106A>C

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