SNP Links for Gene (Select 26048) - SNP

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Select item 14915311111.

rs1491531111 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:4745952 (GRCh38)
16:4795953 (GRCh37)
Canonical SPDI:: NC_000016.10:4745951:CA:
Gene:: ZNF500 (Varview), DNAAF8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.4745952_4745953del, NC_000016.9:g.4795953_4795954del, XM_011522453.3:c.*139_*140del

Select item 14910299542.

rs1491029954 has merged into rs58259917 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:4745962 (GRCh38)
16:4795963 (GRCh37)
Canonical SPDI:: NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:4745952:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF500 (Varview), DNAAF8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000181/48 (TOPMED)
HGVS:: NC_000016.10:g.4745962_4745969del, NC_000016.10:g.4745963_4745969del, NC_000016.10:g.4745964_4745969del, NC_000016.10:g.4745965_4745969del, NC_000016.10:g.4745966_4745969del, NC_000016.10:g.4745967_4745969del, NC_000016.10:g.4745968_4745969del, NC_000016.10:g.4745969del, NC_000016.10:g.4745969dup, NC_000016.10:g.4745968_4745969dup, NC_000016.10:g.4745967_4745969dup, NC_000016.10:g.4745966_4745969dup, NC_000016.10:g.4745965_4745969dup, NC_000016.10:g.4745964_4745969dup, NC_000016.10:g.4745963_4745969dup, NC_000016.10:g.4745962_4745969dup, NC_000016.9:g.4795963_4795970del, NC_000016.9:g.4795964_4795970del, NC_000016.9:g.4795965_4795970del, NC_000016.9:g.4795966_4795970del, NC_000016.9:g.4795967_4795970del, NC_000016.9:g.4795968_4795970del, NC_000016.9:g.4795969_4795970del, NC_000016.9:g.4795970del, NC_000016.9:g.4795970dup, NC_000016.9:g.4795969_4795970dup, NC_000016.9:g.4795968_4795970dup, NC_000016.9:g.4795967_4795970dup, NC_000016.9:g.4795966_4795970dup, NC_000016.9:g.4795965_4795970dup, NC_000016.9:g.4795964_4795970dup, NC_000016.9:g.4795963_4795970dup, XM_011522453.3:c.*132_*139del, XM_011522453.3:c.*133_*139del, XM_011522453.3:c.*134_*139del, XM_011522453.3:c.*135_*139del, XM_011522453.3:c.*136_*139del, XM_011522453.3:c.*137_*139del, XM_011522453.3:c.*138_*139del, XM_011522453.3:c.*139del, XM_011522453.3:c.*139dup, XM_011522453.3:c.*138_*139dup, XM_011522453.3:c.*137_*139dup, XM_011522453.3:c.*136_*139dup, XM_011522453.3:c.*135_*139dup, XM_011522453.3:c.*134_*139dup, XM_011522453.3:c.*133_*139dup, XM_011522453.3:c.*132_*139dup, XM_011522453.2:c.*124_*131dup, XM_011522453.2:c.*131dup, XM_011522453.2:c.*130_*131dup, XM_011522453.2:c.*129_*131dup, XM_011522453.2:c.*128_*131dup, XM_011522453.2:c.*127_*131dup, XM_011522453.2:c.*126_*131dup, XM_011522453.2:c.*125_*131dup, XM_011522453.2:c.*123_*131dup, XM_011522453.2:c.*131_*132insTTTTTTTTTT, XM_011522453.2:c.*131_*132insTTTTTTTTTTT, XM_011522453.2:c.*131_*132insTTTTTTTTTTTT, XM_011522453.2:c.*131_*132insTTTTTTTTTTTTT, XM_011522453.2:c.*131_*132insTTTTTTTTTTTTTT, XM_011522453.2:c.*131_*132insTTTTTTTTTTTTTTT, XM_011522453.2:c.*131_*132insTTTTTTTTTTTTTTTT

Select item 14910029983.

rs1491002998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:4751619 (GRCh38)
16:4801620 (GRCh37)
Canonical SPDI:: NC_000016.10:4751618:G:T
Gene:: ZNF500 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.4751619G>T, NC_000016.9:g.4801620G>T, XM_005255243.5:c.*757C>A, XM_005255243.4:c.*757C>A, XM_005255243.3:c.*757C>A, NM_021646.4:c.*757C>A, NM_021646.3:c.*757C>A, NM_021646.2:c.*757C>A, NM_021646.1:c.*757C>A, NM_001303450.2:c.*11C>A, NM_001303450.1:c.*11C>A

Select item 14908045254.

rs1490804525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:4754912 (GRCh38)
16:4804913 (GRCh37)
Canonical SPDI:: NC_000016.10:4754911:C:G
Gene:: ZNF500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000049/13 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000016.10:g.4754912C>G, NC_000016.9:g.4804913C>G

Select item 14907548575.

rs1490754857 has merged into rs71139657 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 16:4761490 (GRCh38)
16:4811491 (GRCh37)
Canonical SPDI:: NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:4761478:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: ZNF500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
ACACACAC=0./0 (GENOME_DK)
HGVS:: NC_000016.10:g.4761480CA[5], NC_000016.10:g.4761480CA[7], NC_000016.10:g.4761480CA[8], NC_000016.10:g.4761480CA[9], NC_000016.10:g.4761480CA[10], NC_000016.10:g.4761480CA[11], NC_000016.10:g.4761480CA[12], NC_000016.10:g.4761480CA[13], NC_000016.10:g.4761480CA[14], NC_000016.10:g.4761480CA[15], NC_000016.10:g.4761480CA[16], NC_000016.10:g.4761480CA[17], NC_000016.10:g.4761480CA[18], NC_000016.10:g.4761480CA[19], NC_000016.10:g.4761480CA[20], NC_000016.10:g.4761480CA[21], NC_000016.10:g.4761480CA[22], NC_000016.10:g.4761480CA[23], NC_000016.10:g.4761480CA[25], NC_000016.10:g.4761480CA[26], NC_000016.10:g.4761480CA[27], NC_000016.10:g.4761480CA[28], NC_000016.9:g.4811481CA[5], NC_000016.9:g.4811481CA[7], NC_000016.9:g.4811481CA[8], NC_000016.9:g.4811481CA[9], NC_000016.9:g.4811481CA[10], NC_000016.9:g.4811481CA[11], NC_000016.9:g.4811481CA[12], NC_000016.9:g.4811481CA[13], NC_000016.9:g.4811481CA[14], NC_000016.9:g.4811481CA[15], NC_000016.9:g.4811481CA[16], NC_000016.9:g.4811481CA[17], NC_000016.9:g.4811481CA[18], NC_000016.9:g.4811481CA[19], NC_000016.9:g.4811481CA[20], NC_000016.9:g.4811481CA[21], NC_000016.9:g.4811481CA[22], NC_000016.9:g.4811481CA[23], NC_000016.9:g.4811481CA[25], NC_000016.9:g.4811481CA[26], NC_000016.9:g.4811481CA[27], NC_000016.9:g.4811481CA[28]

Select item 14907311636.

rs1490731163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:4751387 (GRCh38)
16:4801388 (GRCh37)
Canonical SPDI:: NC_000016.10:4751386:G:A,NC_000016.10:4751386:G:T
Gene:: ZNF500 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000672/11 (TOMMO)
HGVS:: NC_000016.10:g.4751387G>A, NC_000016.10:g.4751387G>T, NC_000016.9:g.4801388G>A, NC_000016.9:g.4801388G>T, XM_005255243.5:c.*989C>T, XM_005255243.5:c.*989C>A, XM_005255243.4:c.*989C>T, XM_005255243.4:c.*989C>A, XM_005255243.3:c.*989C>T, XM_005255243.3:c.*989C>A, NM_021646.4:c.*989C>T, NM_021646.4:c.*989C>A, NM_021646.3:c.*989C>T, NM_021646.3:c.*989C>A, NM_021646.2:c.*989C>T, NM_021646.2:c.*989C>A, NM_021646.1:c.*989C>T, NM_021646.1:c.*989C>A, NM_001303450.2:c.*243C>T, NM_001303450.2:c.*243C>A, NM_001303450.1:c.*243C>T, NM_001303450.1:c.*243C>A

Select item 14907014807.

rs1490701480 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:4761893 (GRCh38)
16:4811894 (GRCh37)
Canonical SPDI:: NC_000016.10:4761892:C:A,NC_000016.10:4761892:C:G
Gene:: ZNF500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.4761893C>A, NC_000016.10:g.4761893C>G, NC_000016.9:g.4811894C>A, NC_000016.9:g.4811894C>G

Select item 14906860458.

rs1490686045 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACATACACA>- [Show Flanks]
Chromosome:: 16:4761474 (GRCh38)
16:4811475 (GRCh37)
Canonical SPDI:: NC_000016.10:4761466:ATACACATACATACACA:ATACACA
Gene:: ZNF500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATACACA=0./0 (ALFA)
HGVS:: NC_000016.10:g.4761474_4761483del, NC_000016.9:g.4811475_4811484del

Select item 14905897769.

rs1490589776 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:4753455 (GRCh38)
16:4803456 (GRCh37)
Canonical SPDI:: NC_000016.10:4753454:CT:
Gene:: ZNF500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000016.10:g.4753455_4753456del, NC_000016.9:g.4803456_4803457del

Select item 149048251210.

rs1490482512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4756527 (GRCh38)
16:4806528 (GRCh37)
Canonical SPDI:: NC_000016.10:4756526:G:A
Gene:: ZNF500 (Varview)
Functional Consequence:: intron_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_000016.10:g.4756527G>A, NC_000016.9:g.4806528G>A

Select item 149038699911.

rs1490386999 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:4764800 (GRCh38)
16:4814801 (GRCh37)
Canonical SPDI:: NC_000016.10:4764799:A:C,NC_000016.10:4764799:A:G
Gene:: ZNF500 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000026/7 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.4764800A>C, NC_000016.10:g.4764800A>G, NC_000016.9:g.4814801A>C, NC_000016.9:g.4814801A>G

Select item 149033028112.

rs1490330281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:4757555 (GRCh38)
16:4807556 (GRCh37)
Canonical SPDI:: NC_000016.10:4757554:C:G
Gene:: ZNF500 (Varview)
Functional Consequence:: 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.4757555C>G, NC_000016.9:g.4807556C>G

Select item 149030705413.

rs1490307054 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCG>- [Show Flanks]
Chromosome:: 16:4769030 (GRCh38)
16:4819031 (GRCh37)
Canonical SPDI:: NC_000016.10:4769025:GTCGTCG:GTCG
Gene:: ZNF500 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTCG=0.000071/1 (ALFA)
-=0.000042/11 (TOPMED)
-=0.00005/7 (GnomAD)
HGVS:: NC_000016.10:g.4769027TCG[1], NC_000016.9:g.4819028TCG[1]

Select item 149016638014.

rs1490166380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4752502 (GRCh38)
16:4802503 (GRCh37)
Canonical SPDI:: NC_000016.10:4752501:G:A
Gene:: ZNF500 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000016.10:g.4752502G>A, NC_000016.9:g.4802503G>A, XM_005255243.5:c.966C>T, XM_005255243.4:c.966C>T, XM_005255243.3:c.966C>T, XM_005255243.2:c.966C>T, XM_005255243.1:c.966C>T, NM_021646.4:c.1317C>T, NM_021646.3:c.1317C>T, NM_021646.2:c.1317C>T, NM_021646.1:c.1317C>T

Select item 149006168715.

rs1490061687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4746064 (GRCh38)
16:4796065 (GRCh37)
Canonical SPDI:: NC_000016.10:4746063:G:A
Gene:: ZNF500 (Varview), DNAAF8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.4746064G>A, NC_000016.9:g.4796065G>A, XM_011522453.3:c.*28C>T, XM_011522453.2:c.*28C>T, XM_011522453.1:c.*28C>T

Select item 149002268016.

rs1490022680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:4757605 (GRCh38)
16:4807606 (GRCh37)
Canonical SPDI:: NC_000016.10:4757604:T:C
Gene:: ZNF500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4757605T>C, NC_000016.9:g.4807606T>C

Select item 148998287317.

rs1489982873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4755896 (GRCh38)
16:4805897 (GRCh37)
Canonical SPDI:: NC_000016.10:4755895:G:A
Gene:: ZNF500 (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.4755896G>A, NC_000016.9:g.4805897G>A

Select item 148975861018.

rs1489758610 has merged into rs59295954 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 16:4751924 (GRCh38)
16:4801925 (GRCh37)
Canonical SPDI:: NC_000016.10:4751917:GGGGGGGGG:GGGGGG,NC_000016.10:4751917:GGGGGGGGG:GGGGGGGG,NC_000016.10:4751917:GGGGGGGGG:GGGGGGGGGG,NC_000016.10:4751917:GGGGGGGGG:GGGGGGGGGGG,NC_000016.10:4751917:GGGGGGGGG:GGGGGGGGGGGG
Gene:: ZNF500 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGG=0./0 (ALFA)
G=0.0006/10 (TOMMO)
HGVS:: NC_000016.10:g.4751924_4751926del, NC_000016.10:g.4751926del, NC_000016.10:g.4751926dup, NC_000016.10:g.4751925_4751926dup, NC_000016.10:g.4751924_4751926dup, NC_000016.9:g.4801925_4801927del, NC_000016.9:g.4801927del, NC_000016.9:g.4801927dup, NC_000016.9:g.4801926_4801927dup, NC_000016.9:g.4801925_4801927dup, XM_005255243.5:c.*456_*458del, XM_005255243.5:c.*458del, XM_005255243.5:c.*458dup, XM_005255243.5:c.*457_*458dup, XM_005255243.5:c.*456_*458dup, XM_005255243.4:c.*456_*458del, XM_005255243.4:c.*458del, XM_005255243.4:c.*458dup, XM_005255243.4:c.*457_*458dup, XM_005255243.4:c.*456_*458dup, XM_005255243.3:c.*456_*458del, XM_005255243.3:c.*458del, XM_005255243.3:c.*458dup, XM_005255243.3:c.*457_*458dup, XM_005255243.3:c.*456_*458dup, NM_021646.4:c.*456_*458del, NM_021646.4:c.*458del, NM_021646.4:c.*458dup, NM_021646.4:c.*457_*458dup, NM_021646.4:c.*456_*458dup, NM_021646.3:c.*456_*458del, NM_021646.3:c.*458del, NM_021646.3:c.*458dup, NM_021646.3:c.*457_*458dup, NM_021646.3:c.*456_*458dup, NM_021646.2:c.*456_*458del, NM_021646.2:c.*458del, NM_021646.2:c.*458dup, NM_021646.2:c.*457_*458dup, NM_021646.2:c.*456_*458dup, NM_021646.1:c.*456_*458del, NM_021646.1:c.*458del, NM_021646.1:c.*458dup, NM_021646.1:c.*457_*458dup, NM_021646.1:c.*456_*458dup

Select item 148967204319.

rs1489672043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:4759230 (GRCh38)
16:4809231 (GRCh37)
Canonical SPDI:: NC_000016.10:4759229:C:A
Gene:: ZNF500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.4759230C>A, NC_000016.9:g.4809231C>A

Select item 148965148320.

rs1489651483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4762519 (GRCh38)
16:4812520 (GRCh37)
Canonical SPDI:: NC_000016.10:4762518:C:T
Gene:: ZNF500 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.4762519C>T, NC_000016.9:g.4812520C>T

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