SNP Links for Gene (Select 55311) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14914860741.

rs1491486074 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCCCCGGG [Show Flanks]
Chromosome:: 19:56159919 (GRCh38)
19:56671289 (GRCh37)
Canonical SPDI:: NC_000019.10:56159919:AGCCCCGGG:AGCCCCGGGAGCCCCGGG
Gene:: ZNF444 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCCCCGGGAGCCCCGGG=0.000084/1 (ALFA)
AGCCCCGGG=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.56159920_56159928dup, NC_000019.9:g.56671289_56671297dup, NM_018337.4:c.703_711dup, NM_018337.3:c.703_711dup, XM_005259034.3:c.703_711dup, XM_005259034.2:c.703_711dup, XM_005259034.1:c.703_711dup, XM_005259035.2:c.703_711dup, XM_005259035.1:c.703_711dup, XM_024451575.2:c.703_711dup, XM_024451575.1:c.703_711dup, XM_024451573.2:c.703_711dup, XM_024451573.1:c.703_711dup, XM_005259036.2:c.703_711dup, XM_005259036.1:c.703_711dup, NM_001253792.2:c.700_708dup, NM_001253792.1:c.700_708dup, XM_017026933.2:c.466_474dup, XM_017026933.1:c.466_474dup, XM_047439040.1:c.703_711dup, XM_047439037.1:c.703_711dup, XM_047439038.1:c.703_711dup, XM_024451576.1:c.703_711dup, XM_047439044.1:c.700_708dup, XM_047439042.1:c.700_708dup, XM_047439041.1:c.700_708dup, XM_047439043.1:c.700_708dup, XM_047439039.1:c.703_711dup, XM_047439045.1:c.310_318dup, NP_060807.2:p.232SPG[3], XP_005259091.1:p.232SPG[3], XP_005259092.1:p.232SPG[3], XP_024307343.1:p.232SPG[3], XP_024307341.1:p.232SPG[3], XP_005259093.1:p.232SPG[3], NP_001240721.1:p.231SPG[3], XP_016882422.1:p.153SPG[3], XP_047294996.1:p.232SPG[3], XP_047294993.1:p.232SPG[3], XP_047294994.1:p.232SPG[3], XP_024307344.1:p.232SPG[3], XP_047295000.1:p.231SPG[3], XP_047294998.1:p.231SPG[3], XP_047294997.1:p.231SPG[3], XP_047294999.1:p.231SPG[3], XP_047294995.1:p.232SPG[3], XP_047295001.1:p.101SPG[3]

Select item 14914777832.

rs1491477783 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:56152331 (GRCh38)
19:56663700 (GRCh37)
Canonical SPDI:: NC_000019.10:56152330:CA:
Gene:: ZNF444 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.56152331_56152332del, NC_000019.9:g.56663700_56663701del

Select item 14913190383.

rs1491319038 has merged into rs1162528500 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 19:56152343 (GRCh38)
19:56663712 (GRCh37)
Canonical SPDI:: NC_000019.10:56152331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:56152331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:56152331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:56152331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:56152331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:56152331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:56152331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: ZNF444 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56152343_56152349del, NC_000019.10:g.56152346_56152349del, NC_000019.10:g.56152347_56152349del, NC_000019.10:g.56152348_56152349del, NC_000019.10:g.56152349del, NC_000019.10:g.56152349dup, NC_000019.10:g.56152348_56152349dup, NC_000019.9:g.56663712_56663718del, NC_000019.9:g.56663715_56663718del, NC_000019.9:g.56663716_56663718del, NC_000019.9:g.56663717_56663718del, NC_000019.9:g.56663718del, NC_000019.9:g.56663718dup, NC_000019.9:g.56663717_56663718dup

Select item 14912157584.

rs1491215758 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:56159919 (GRCh38)
19:56671288 (GRCh37)
Canonical SPDI:: NC_000019.10:56159918:CA:
Gene:: ZNF444 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.56159919_56159920del, NC_000019.9:g.56671288_56671289del, NM_018337.4:c.702_703del, NM_018337.3:c.702_703del, XM_005259034.3:c.702_703del, XM_005259034.2:c.702_703del, XM_005259034.1:c.702_703del, XM_005259035.2:c.702_703del, XM_005259035.1:c.702_703del, XM_024451575.2:c.702_703del, XM_024451575.1:c.702_703del, XM_024451573.2:c.702_703del, XM_024451573.1:c.702_703del, XM_005259036.2:c.702_703del, XM_005259036.1:c.702_703del, NM_001253792.2:c.699_700del, NM_001253792.1:c.699_700del, XM_017026933.2:c.465_466del, XM_017026933.1:c.465_466del, XM_047439040.1:c.702_703del, XM_047439037.1:c.702_703del, XM_047439038.1:c.702_703del, XM_024451576.1:c.702_703del, XM_047439044.1:c.699_700del, XM_047439042.1:c.699_700del, XM_047439041.1:c.699_700del, XM_047439043.1:c.699_700del, XM_047439039.1:c.702_703del, XM_047439045.1:c.309_310del, NP_060807.2:p.Ser235fs, XP_005259091.1:p.Ser235fs, XP_005259092.1:p.Ser235fs, XP_024307343.1:p.Ser235fs, XP_024307341.1:p.Ser235fs, XP_005259093.1:p.Ser235fs, NP_001240721.1:p.Ser234fs, XP_016882422.1:p.Ser156fs, XP_047294996.1:p.Ser235fs, XP_047294993.1:p.Ser235fs, XP_047294994.1:p.Ser235fs, XP_024307344.1:p.Ser235fs, XP_047295000.1:p.Ser234fs, XP_047294998.1:p.Ser234fs, XP_047294997.1:p.Ser234fs, XP_047294999.1:p.Ser234fs, XP_047294995.1:p.Ser235fs, XP_047295001.1:p.Ser104fs

Select item 14909922805.

rs1490992280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:56144183 (GRCh38)
19:56655552 (GRCh37)
Canonical SPDI:: NC_000019.10:56144182:C:T
Gene:: ZNF444 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56144183C>T, NC_000019.9:g.56655552C>T, XM_047439040.1:c.-1863C>T

Select item 14909806226.

rs1490980622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:56145194 (GRCh38)
19:56656563 (GRCh37)
Canonical SPDI:: NC_000019.10:56145193:C:T
Gene:: ZNF444 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_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.56145194C>T, NC_000019.9:g.56656563C>T, XM_047439040.1:c.-852C>T

Select item 14909644627.

rs1490964462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:56157055 (GRCh38)
19:56668424 (GRCh37)
Canonical SPDI:: NC_000019.10:56157054:C:A,NC_000019.10:56157054:C:G
Gene:: ZNF444 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.56157055C>A, NC_000019.10:g.56157055C>G, NC_000019.9:g.56668424C>A, NC_000019.9:g.56668424C>G

Select item 14909003598.

rs1490900359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:56143274 (GRCh38)
19:56654643 (GRCh37)
Canonical SPDI:: NC_000019.10:56143273:T:A
Gene:: ZNF444 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.56143274T>A, NC_000019.9:g.56654643T>A, XM_047439037.1:c.-514T>A

Select item 14908708089.

rs1490870808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:56151212 (GRCh38)
19:56662581 (GRCh37)
Canonical SPDI:: NC_000019.10:56151211:G:A,NC_000019.10:56151211:G:C
Gene:: ZNF444 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.56151212G>A, NC_000019.10:g.56151212G>C, NC_000019.9:g.56662581G>A, NC_000019.9:g.56662581G>C

Select item 149054504210.

rs1490545042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:56150624 (GRCh38)
19:56661993 (GRCh37)
Canonical SPDI:: NC_000019.10:56150623:A:G
Gene:: ZNF444 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.56150624A>G, NC_000019.9:g.56661993A>G

Select item 149049390511.

rs1490493905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:56144639 (GRCh38)
19:56656008 (GRCh37)
Canonical SPDI:: NC_000019.10:56144638:C:A
Gene:: ZNF444 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.56144639C>A, NC_000019.9:g.56656008C>A, XM_047439040.1:c.-1407C>A

Select item 149026141812.

rs1490261418 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:56150368 (GRCh38)
19:56661737 (GRCh37)
Canonical SPDI:: NC_000019.10:56150367:C:
Gene:: ZNF444 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56150368del, NC_000019.9:g.56661737del

Select item 149008204913.

rs1490082049 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:56142732 (GRCh38)
19:56654101 (GRCh37)
Canonical SPDI:: NC_000019.10:56142729:CACA:CA
Gene:: ZNF444 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.56142730CA[1], NC_000019.9:g.56654099CA[1], XM_047439037.1:c.-1058CA[1], XM_024451576.1:c.-206CA[1], XM_047439044.1:c.-206CA[1]

Select item 148984101014.

rs1489841010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:56153589 (GRCh38)
19:56664958 (GRCh37)
Canonical SPDI:: NC_000019.10:56153588:C:G
Gene:: ZNF444 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.56153589C>G, NC_000019.9:g.56664958C>G

Select item 148976609815.

rs1489766098 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACC>- [Show Flanks]
Chromosome:: 19:56156251 (GRCh38)
19:56667620 (GRCh37)
Canonical SPDI:: NC_000019.10:56156248:CCACC:CC
Gene:: ZNF444 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000117/31 (TOPMED)
HGVS:: NC_000019.10:g.56156251_56156253del, NC_000019.9:g.56667620_56667622del

Select item 148960726416.

rs1489607264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56147089 (GRCh38)
19:56658458 (GRCh37)
Canonical SPDI:: NC_000019.10:56147088:T:C
Gene:: ZNF444 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.56147089T>C, NC_000019.9:g.56658458T>C, NM_018337.4:c.178T>C, NM_018337.3:c.178T>C, XM_005259034.3:c.178T>C, XM_005259034.2:c.178T>C, XM_005259034.1:c.178T>C, XM_005259035.2:c.178T>C, XM_005259035.1:c.178T>C, XM_024451575.2:c.178T>C, XM_024451575.1:c.178T>C, XM_024451573.2:c.178T>C, XM_024451573.1:c.178T>C, XM_005259036.2:c.178T>C, XM_005259036.1:c.178T>C, NM_001253792.2:c.178T>C, NM_001253792.1:c.178T>C, XM_047439040.1:c.178T>C, XM_047439037.1:c.178T>C, XM_047439038.1:c.178T>C, XM_024451576.1:c.178T>C, XM_047439044.1:c.178T>C, XM_047439042.1:c.178T>C, XM_047439041.1:c.178T>C, XM_047439043.1:c.178T>C, XM_047439039.1:c.178T>C

Select item 148957060317.

rs1489570603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:56139837 (GRCh38)
19:56651206 (GRCh37)
Canonical SPDI:: NC_000019.10:56139836:A:T
Gene:: ZNF444 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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_000019.10:g.56139837A>T, NC_000019.9:g.56651206A>T

Select item 148942477318.

rs1489424773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:56139439 (GRCh38)
19:56650808 (GRCh37)
Canonical SPDI:: NC_000019.10:56139438:G:T
Gene:: ZNF444 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000019.10:g.56139439G>T, NC_000019.9:g.56650808G>T

Select item 148934241819.

rs1489342418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:56149331 (GRCh38)
19:56660700 (GRCh37)
Canonical SPDI:: NC_000019.10:56149330:T:C
Gene:: ZNF444 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.56149331T>C, NC_000019.9:g.56660700T>C

Select item 148927916920.

rs1489279169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:56153237 (GRCh38)
19:56664606 (GRCh37)
Canonical SPDI:: NC_000019.10:56153236:A:C
Gene:: ZNF444 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.56153237A>C, NC_000019.9:g.56664606A>C

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity