SNP Links for Gene (Select 574493) - SNP

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Select item 14883106501.

rs1488310650 has merged into rs572536491 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAAATA>-,AATA,AATAAATAAATA [Show Flanks]
Chromosome:: 19:53741267 (GRCh38)
19:54244521 (GRCh37)
Canonical SPDI:: NC_000019.10:53741259:ATAAATAAATAAATA:ATAAATA,NC_000019.10:53741259:ATAAATAAATAAATA:ATAAATAAATA,NC_000019.10:53741259:ATAAATAAATAAATA:ATAAATAAATAAATAAATA
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAATAAATAAATAAATA=0./0 (ALFA)
-=0.003594/18 (1000Genomes)
-=0.005278/1397 (TOPMED)
-=0.007875/84 (GoESP)
HGVS:: NC_000019.10:g.53741263AATA[1], NC_000019.10:g.53741263AATA[2], NC_000019.10:g.53741263AATA[4], NC_000019.9:g.54244517AATA[1], NC_000019.9:g.54244517AATA[2], NC_000019.9:g.54244517AATA[4]

Select item 14882616382.

rs1488261638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:53742015 (GRCh38)
19:54245269 (GRCh37)
Canonical SPDI:: NC_000019.10:53742014:C:G
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53742015C>G, NC_000019.9:g.54245269C>G, XR_007067333.1:n.29C>G

Select item 14871223633.

rs1487122363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53742114 (GRCh38)
19:54245368 (GRCh37)
Canonical SPDI:: NC_000019.10:53742113:G:A
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_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_000019.10:g.53742114G>A, NC_000019.9:g.54245368G>A, XR_007067333.1:n.128G>A

Select item 14846957094.

rs1484695709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53740530 (GRCh38)
19:54243784 (GRCh37)
Canonical SPDI:: NC_000019.10:53740529:G:A
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_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)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.53740530G>A, NC_000019.9:g.54243784G>A

Select item 14836470025.

rs1483647002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53740966 (GRCh38)
19:54244220 (GRCh37)
Canonical SPDI:: NC_000019.10:53740965:A:G
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.53740966A>G, NC_000019.9:g.54244220A>G

Select item 14825623026.

rs1482562302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:53742316 (GRCh38)
19:54245570 (GRCh37)
Canonical SPDI:: NC_000019.10:53742315:G:C
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53742316G>C, NC_000019.9:g.54245570G>C

Select item 14824496087.

rs1482449608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53741508 (GRCh38)
19:54244762 (GRCh37)
Canonical SPDI:: NC_000019.10:53741507:C:T
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53741508C>T, NC_000019.9:g.54244762C>T

Select item 14821201828.

rs1482120182 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:53741199 (GRCh38)
19:54244453 (GRCh37)
Canonical SPDI:: NC_000019.10:53741198:G:
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53741199del, NC_000019.9:g.54244453del

Select item 14789013369.

rs1478901336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:53741778 (GRCh38)
19:54245032 (GRCh37)
Canonical SPDI:: NC_000019.10:53741777:C:A,NC_000019.10:53741777:C:T
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000038/5 (GnomAD)
T=0.000156/1 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53741778C>A, NC_000019.10:g.53741778C>T, NC_000019.9:g.54245032C>A, NC_000019.9:g.54245032C>T

Select item 147870518410.

rs1478705184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:53742390 (GRCh38)
19:54245644 (GRCh37)
Canonical SPDI:: NC_000019.10:53742389:T:G
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53742390T>G, NC_000019.9:g.54245644T>G

Select item 147659956911.

rs1476599569 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:53742273 (GRCh38)
19:54245527 (GRCh37)
Canonical SPDI:: NC_000019.10:53742272:T:A
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000019.10:g.53742273T>A, NC_000019.9:g.54245527T>A

Select item 147622990612.

rs1476229906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:53741289 (GRCh38)
19:54244543 (GRCh37)
Canonical SPDI:: NC_000019.10:53741288:A:T
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53741289A>T, NC_000019.9:g.54244543A>T

Select item 147482626213.

rs1474826262 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:53742684 (GRCh38)
19:54245938 (GRCh37)
Canonical SPDI:: NC_000019.10:53742683:T:C,NC_000019.10:53742683:T:G
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000342/1 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53742684T>C, NC_000019.10:g.53742684T>G, NC_000019.9:g.54245938T>C, NC_000019.9:g.54245938T>G

Select item 147350688014.

rs1473506880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53741244 (GRCh38)
19:54244498 (GRCh37)
Canonical SPDI:: NC_000019.10:53741243:C:T
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53741244C>T, NC_000019.9:g.54244498C>T

Select item 147252804015.

rs1472528040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53741645 (GRCh38)
19:54244899 (GRCh37)
Canonical SPDI:: NC_000019.10:53741644:T:C
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.53741645T>C, NC_000019.9:g.54244899T>C

Select item 147232582416.

rs1472325824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:53742090 (GRCh38)
19:54245344 (GRCh37)
Canonical SPDI:: NC_000019.10:53742089:G:A,NC_000019.10:53742089:G:T
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000019.10:g.53742090G>A, NC_000019.10:g.53742090G>T, NC_000019.9:g.54245344G>A, NC_000019.9:g.54245344G>T, XR_007067333.1:n.104G>A, XR_007067333.1:n.104G>T

Select item 146995222817.

rs1469952228 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53740951 (GRCh38)
19:54244205 (GRCh37)
Canonical SPDI:: NC_000019.10:53740950:C:T
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53740951C>T, NC_000019.9:g.54244205C>T

Select item 146962098618.

rs1469620986 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:53742426 (GRCh38)
19:54245680 (GRCh37)
Canonical SPDI:: NC_000019.10:53742425:CC:C
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53742427del, NC_000019.9:g.54245681del

Select item 146920710519.

rs1469207105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53742095 (GRCh38)
19:54245349 (GRCh37)
Canonical SPDI:: NC_000019.10:53742094:T:C
Gene:: MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53742095T>C, NC_000019.9:g.54245349T>C, XR_007067333.1:n.109T>C

Select item 146905220920.

rs1469052209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53741357 (GRCh38)
19:54244611 (GRCh37)
Canonical SPDI:: NC_000019.10:53741356:G:T
Gene:: MIR517C (Varview), MIR520H (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53741357G>T, NC_000019.9:g.54244611G>T, NR_030214.1:n.45G>T

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