SNP Links for Gene (Select 80032) - SNP

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Select item 14915838471.

rs1491583847 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:2872818 (GRCh38)
19:2872816 (GRCh37)
Canonical SPDI:: NC_000019.10:2872817:CA:
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000019.10:g.2872818_2872819del, NC_000019.9:g.2872816_2872817del

Select item 14911757892.

rs1491175789 has merged into rs770269518 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 19:2872830 (GRCh38)
19:2872828 (GRCh37)
Canonical SPDI:: NC_000019.10:2872818:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:2872818:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:2872818:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:2872818:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:2872818:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:2872818:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:2872818:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:2872818:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:2872818:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:2872818:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000019.10:g.2872830_2872836del, NC_000019.10:g.2872832_2872836del, NC_000019.10:g.2872833_2872836del, NC_000019.10:g.2872834_2872836del, NC_000019.10:g.2872835_2872836del, NC_000019.10:g.2872836del, NC_000019.10:g.2872836dup, NC_000019.10:g.2872835_2872836dup, NC_000019.10:g.2872834_2872836dup, NC_000019.10:g.2872833_2872836dup, NC_000019.9:g.2872828_2872834del, NC_000019.9:g.2872830_2872834del, NC_000019.9:g.2872831_2872834del, NC_000019.9:g.2872832_2872834del, NC_000019.9:g.2872833_2872834del, NC_000019.9:g.2872834del, NC_000019.9:g.2872834dup, NC_000019.9:g.2872833_2872834dup, NC_000019.9:g.2872832_2872834dup, NC_000019.9:g.2872831_2872834dup

Select item 14907926063.

rs1490792606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:2866132 (GRCh38)
19:2866130 (GRCh37)
Canonical SPDI:: NC_000019.10:2866131:T:C
Gene:: ZNF556 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000053/14 (TOPMED)
C=0.00008/11 (GnomAD)
HGVS:: NC_000019.10:g.2866132T>C, NC_000019.9:g.2866130T>C

Select item 14906637784.

rs1490663778 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2874137 (GRCh38)
19:2874135 (GRCh37)
Canonical SPDI:: NC_000019.10:2874136:A:G
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.2874137A>G, NC_000019.9:g.2874135A>G

Select item 14906597375.

rs1490659737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:2868619 (GRCh38)
19:2868617 (GRCh37)
Canonical SPDI:: NC_000019.10:2868618:G:T
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.2868619G>T, NC_000019.9:g.2868617G>T

Select item 14906124436.

rs1490612443 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAAA>- [Show Flanks]
Chromosome:: 19:2874761 (GRCh38)
19:2874759 (GRCh37)
Canonical SPDI:: NC_000019.10:2874757:AAAAGAAA:AAA
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.2874761_2874765del, NC_000019.9:g.2874759_2874763del

Select item 14901765897.

rs1490176589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2867375 (GRCh38)
19:2867373 (GRCh37)
Canonical SPDI:: NC_000019.10:2867374:C:T
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2867375C>T, NC_000019.9:g.2867373C>T, NM_024967.3:c.-47C>T, NM_024967.2:c.-47C>T, NM_024967.1:c.-47C>T, NR_145838.2:n.41C>T, NR_145838.1:n.41C>T, NM_001300843.2:c.-47C>T, NM_001300843.1:c.-47C>T

Select item 14901554558.

rs1490155455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:2867191 (GRCh38)
19:2867189 (GRCh37)
Canonical SPDI:: NC_000019.10:2867190:G:A
Gene:: ZNF556 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.2867191G>A, NC_000019.9:g.2867189G>A

Select item 14900155119.

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 148984879910.

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 148984464311.

rs1489844643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:2873779 (GRCh38)
19:2873777 (GRCh37)
Canonical SPDI:: NC_000019.10:2873778:C:A
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2873779C>A, NC_000019.9:g.2873777C>A

Select item 148981177812.

rs1489811778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:2870505 (GRCh38)
19:2870503 (GRCh37)
Canonical SPDI:: NC_000019.10:2870504:G:A,NC_000019.10:2870504:G:T
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2870505G>A, NC_000019.10:g.2870505G>T, NC_000019.9:g.2870503G>A, NC_000019.9:g.2870503G>T

Select item 148971527213.

rs1489715272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:2876403 (GRCh38)
19:2876401 (GRCh37)
Canonical SPDI:: NC_000019.10:2876402:C:A,NC_000019.10:2876402:C:G
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000306/5 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000248/7 (TOMMO)
G=0.013689/40 (KOREAN)
HGVS:: NC_000019.10:g.2876403C>A, NC_000019.10:g.2876403C>G, NC_000019.9:g.2876401C>A, NC_000019.9:g.2876401C>G

Select item 148961867314.

rs1489618673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:2872868 (GRCh38)
19:2872866 (GRCh37)
Canonical SPDI:: NC_000019.10:2872867:C:T
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2872868C>T, NC_000019.9:g.2872866C>T

Select item 148957634915.

rs1489576349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:2878462 (GRCh38)
19:2878460 (GRCh37)
Canonical SPDI:: NC_000019.10:2878461:A:G
Gene:: ZNF556 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2878462A>G, NC_000019.9:g.2878460A>G, NM_024967.3:c.*133A>G, NM_024967.2:c.*133A>G, NM_024967.1:c.*133A>G, NR_145838.2:n.1587A>G, NR_145838.1:n.1587A>G, NM_001300843.2:c.*133A>G, NM_001300843.1:c.*133A>G

Select item 148957366516.

rs1489573665 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAA [Show Flanks]
Chromosome:: 19:2874754 (GRCh38)
19:2874753 (GRCh37)
Canonical SPDI:: NC_000019.10:2874754:AAA:AAAGAAA
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAGAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.2874757_2874758insGAAA, NC_000019.9:g.2874755_2874756insGAAA

Select item 148952499517.

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 148919608118.

rs1489196081 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:2869715 (GRCh38)
19:2869713 (GRCh37)
Canonical SPDI:: NC_000019.10:2869714:A:C
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_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.2869715A>C, NC_000019.9:g.2869713A>C

Select item 148911377019.

rs1489113770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:2869255 (GRCh38)
19:2869253 (GRCh37)
Canonical SPDI:: NC_000019.10:2869254:G:C,NC_000019.10:2869254:G:T
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.2869255G>C, NC_000019.10:g.2869255G>T, NC_000019.9:g.2869253G>C, NC_000019.9:g.2869253G>T

Select item 148909669220.

rs1489096692 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:2876500 (GRCh38)
19:2876498 (GRCh37)
Canonical SPDI:: NC_000019.10:2876499:A:T
Gene:: ZNF556 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.2876500A>T, NC_000019.9:g.2876498A>T

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