SNP Links for Gene (Select 101927989) - SNP

Links from Gene

Items: 1 to 20 of 1535

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Select item 14908220081.

rs1490822008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:76491455 (GRCh38)
18:74203411 (GRCh37)
Canonical SPDI:: NC_000018.10:76491454:T:C
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000018.10:g.76491455T>C, NC_000018.9:g.74203411T>C, NG_032949.2:g.9964A>G, NG_032949.1:g.8736A>G, XM_011526269.3:c.-166A>G, XM_011526269.2:c.-166A>G, XM_011526269.1:c.-166A>G, XM_047437951.1:c.-4236A>G

Select item 14900067512.

rs1490006751 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCCCC [Show Flanks]
Chromosome:: 18:76491290 (GRCh38)
18:74203247 (GRCh37)
Canonical SPDI:: NC_000018.10:76491290:GCCCC:GCCCCAGCCCC
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCCCCAGCCCC=0./0 (ALFA)
GCCCCA=0.00011/3 (GnomAD)
HGVS:: NC_000018.10:g.76491295_76491296insAGCCCC, NC_000018.9:g.74203251_74203252insAGCCCC, NG_032949.2:g.10124_10128G[4]CTGGGGC[1], NG_032949.1:g.8896_8900G[4]CTGGGGC[1]

Select item 14891690903.

rs1489169090 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:76490476 (GRCh38)
18:74202432 (GRCh37)
Canonical SPDI:: NC_000018.10:76490475:C:A,NC_000018.10:76490475:C:T
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.76490476C>A, NC_000018.10:g.76490476C>T, NC_000018.9:g.74202432C>A, NC_000018.9:g.74202432C>T, NG_032949.2:g.10943G>T, NG_032949.2:g.10943G>A, NG_032949.1:g.9715G>T, NG_032949.1:g.9715G>A

Select item 14889059704.

rs1488905970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:76491231 (GRCh38)
18:74203187 (GRCh37)
Canonical SPDI:: NC_000018.10:76491230:G:C
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000055/7 (GnomAD)
HGVS:: NC_000018.10:g.76491231G>C, NC_000018.9:g.74203187G>C, NG_032949.2:g.10188C>G, NG_032949.1:g.8960C>G

Select item 14884099455.

rs1488409945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76493536 (GRCh38)
18:74205492 (GRCh37)
Canonical SPDI:: NC_000018.10:76493535:A:G
Gene:: ZNF516 (Varview), ZNF516-DT (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000018.10:g.76493536A>G, NC_000018.9:g.74205492A>G, NG_032949.2:g.7883T>C, NG_032949.1:g.6655T>C, NR_136504.1:n.818A>G

Select item 14883937906.

rs1488393790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:76492492 (GRCh38)
18:74204448 (GRCh37)
Canonical SPDI:: NC_000018.10:76492491:G:C
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.76492492G>C, NC_000018.9:g.74204448G>C, NG_032949.2:g.8927C>G, NG_032949.1:g.7699C>G, XM_011526275.3:c.-681C>G, XM_011526275.2:c.-681C>G

Select item 14882950277.

rs1488295027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:76492662 (GRCh38)
18:74204618 (GRCh37)
Canonical SPDI:: NC_000018.10:76492661:C:G,NC_000018.10:76492661:C:T
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.76492662C>G, NC_000018.10:g.76492662C>T, NC_000018.9:g.74204618C>G, NC_000018.9:g.74204618C>T, NG_032949.2:g.8757G>C, NG_032949.2:g.8757G>A, NG_032949.1:g.7529G>C, NG_032949.1:g.7529G>A, XM_011526275.3:c.-851G>C, XM_011526275.3:c.-851G>A, XM_011526275.2:c.-851G>C, XM_011526275.2:c.-851G>A

Select item 14882788738.

rs1488278873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:76490821 (GRCh38)
18:74202777 (GRCh37)
Canonical SPDI:: NC_000018.10:76490820:G:A
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000018.10:g.76490821G>A, NC_000018.9:g.74202777G>A, NG_032949.2:g.10598C>T, NG_032949.1:g.9370C>T, XM_011526270.4:c.-298C>T, XM_011526270.3:c.-298C>T, XM_011526270.2:c.-298C>T, XM_011526270.1:c.-298C>T

Select item 14882679479.

rs1488267947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:76491941 (GRCh38)
18:74203897 (GRCh37)
Canonical SPDI:: NC_000018.10:76491940:G:A
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.76491941G>A, NC_000018.9:g.74203897G>A, NG_032949.2:g.9478C>T, NG_032949.1:g.8250C>T

Select item 148819490910.

rs1488194909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:76491355 (GRCh38)
18:74203311 (GRCh37)
Canonical SPDI:: NC_000018.10:76491354:C:G,NC_000018.10:76491354:C:T
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000018.10:g.76491355C>G, NC_000018.10:g.76491355C>T, NC_000018.9:g.74203311C>G, NC_000018.9:g.74203311C>T, NG_032949.2:g.10064G>C, NG_032949.2:g.10064G>A, NG_032949.1:g.8836G>C, NG_032949.1:g.8836G>A

Select item 148773322011.

rs1487733220 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148721693912.

rs1487216939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:76491862 (GRCh38)
18:74203818 (GRCh37)
Canonical SPDI:: NC_000018.10:76491861:C:G
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.76491862C>G, NC_000018.9:g.74203818C>G, NG_032949.2:g.9557G>C, NG_032949.1:g.8329G>C

Select item 148718416713.

rs1487184167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 18:76490656 (GRCh38)
18:74202612 (GRCh37)
Canonical SPDI:: NC_000018.10:76490655:G:A,NC_000018.10:76490655:G:C
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
C=0.000248/4 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000018.10:g.76490656G>A, NC_000018.10:g.76490656G>C, NC_000018.9:g.74202612G>A, NC_000018.9:g.74202612G>C, NG_032949.2:g.10763C>T, NG_032949.2:g.10763C>G, NG_032949.1:g.9535C>T, NG_032949.1:g.9535C>G

Select item 148649795614.

rs1486497956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:76492067 (GRCh38)
18:74204023 (GRCh37)
Canonical SPDI:: NC_000018.10:76492066:C:A,NC_000018.10:76492066:C:T
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.76492067C>A, NC_000018.10:g.76492067C>T, NC_000018.9:g.74204023C>A, NC_000018.9:g.74204023C>T, NG_032949.2:g.9352G>T, NG_032949.2:g.9352G>A, NG_032949.1:g.8124G>T, NG_032949.1:g.8124G>A, XM_011526275.3:c.-256G>T, XM_011526275.3:c.-256G>A, XM_011526275.2:c.-256G>T, XM_011526275.2:c.-256G>A

Select item 148643216215.

rs1486432162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:76494344 (GRCh38)
18:74206300 (GRCh37)
Canonical SPDI:: NC_000018.10:76494343:T:C
Gene:: ZNF516 (Varview), ZNF516-DT (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000031/4 (GnomAD)
HGVS:: NC_000018.10:g.76494344T>C, NC_000018.9:g.74206300T>C, NG_032949.2:g.7075A>G, NG_032949.1:g.5847A>G

Select item 148624747616.

rs1486247476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76490308 (GRCh38)
18:74202264 (GRCh37)
Canonical SPDI:: NC_000018.10:76490307:A:G
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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)
G=0.000283/5 (TOMMO)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000018.10:g.76490308A>G, NC_000018.9:g.74202264A>G, NG_032949.2:g.11111T>C, NG_032949.1:g.9883T>C

Select item 148583147817.

rs1485831478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:76491570 (GRCh38)
18:74203526 (GRCh37)
Canonical SPDI:: NC_000018.10:76491569:G:A,NC_000018.10:76491569:G:T
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000037/5 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000018.10:g.76491570G>A, NC_000018.10:g.76491570G>T, NC_000018.9:g.74203526G>A, NC_000018.9:g.74203526G>T, NG_032949.2:g.9849C>T, NG_032949.2:g.9849C>A, NG_032949.1:g.8621C>T, NG_032949.1:g.8621C>A

Select item 148507767418.

rs1485077674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:76489712 (GRCh38)
18:74201668 (GRCh37)
Canonical SPDI:: NC_000018.10:76489711:A:G
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.76489712A>G, NC_000018.9:g.74201668A>G, NG_032949.2:g.11707T>C, NG_032949.1:g.10479T>C

Select item 148484172519.

rs1484841725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 18:76493904 (GRCh38)
18:74205860 (GRCh37)
Canonical SPDI:: NC_000018.10:76493903:G:C,NC_000018.10:76493903:G:T
Gene:: ZNF516 (Varview), ZNF516-DT (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.76493904G>C, NC_000018.10:g.76493904G>T, NC_000018.9:g.74205860G>C, NC_000018.9:g.74205860G>T, NG_032949.2:g.7515C>G, NG_032949.2:g.7515C>A, NG_032949.1:g.6287C>G, NG_032949.1:g.6287C>A, NR_136504.1:n.1186G>C, NR_136504.1:n.1186G>T

Select item 148454501920.

rs1484545019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:76492747 (GRCh38)
18:74204703 (GRCh37)
Canonical SPDI:: NC_000018.10:76492746:C:A
Gene:: ZNF516 (Varview), ZNF516-AS1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_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_000018.10:g.76492747C>A, NC_000018.9:g.74204703C>A, NG_032949.2:g.8672G>T, NG_032949.1:g.7444G>T, XM_011526275.3:c.-936G>T, XM_011526275.2:c.-936G>T

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