SNP Links for Gene (Select 84848) - SNP

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Select item 14907824871.

rs1490782487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:134545934 (GRCh38)
X:133679964 (GRCh37)
Canonical SPDI:: NC_000023.11:134545933:C:A
Gene:: MIR503HG (Varview), MIR503 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.134545934C>A, NC_000023.10:g.133679964C>A

Select item 14890112662.

rs1489011266 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:134543295 (GRCh38)
X:133677325 (GRCh37)
Canonical SPDI:: NC_000023.11:134543294:T:C
Gene:: MIR503HG (Varview), MIR542 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.134543295T>C, NC_000023.10:g.133677325T>C

Select item 14883210623.

rs1488321062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:134544679 (GRCh38)
X:133678709 (GRCh37)
Canonical SPDI:: NC_000023.11:134544678:C:T
Gene:: MIR503HG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.134544679C>T, NC_000023.10:g.133678709C>T, NM_032762.2:c.128G>A, NM_032762.1:c.128G>A

Select item 14878570684.

rs1487857068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:134545039 (GRCh38)
X:133679069 (GRCh37)
Canonical SPDI:: NC_000023.11:134545038:G:A
Gene:: MIR503HG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.134545039G>A, NC_000023.10:g.133679069G>A

Select item 14875254535.

rs1487525453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:134544552 (GRCh38)
X:133678582 (GRCh37)
Canonical SPDI:: NC_000023.11:134544551:G:C
Gene:: MIR503HG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.134544552G>C, NC_000023.10:g.133678582G>C, NM_032762.2:c.255C>G, NM_032762.1:c.255C>G

Select item 14874364816.

rs1487436481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:134546204 (GRCh38)
X:133680234 (GRCh37)
Canonical SPDI:: NC_000023.11:134546203:T:C
Gene:: MIR503HG (Varview), MIR424 (Varview), MIR503 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000066/1 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.134546204T>C, NC_000023.10:g.133680234T>C

Select item 14868778777.

rs1486877877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:134545638 (GRCh38)
X:133679668 (GRCh37)
Canonical SPDI:: NC_000023.11:134545637:G:C
Gene:: MIR503HG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.134545638G>C, NC_000023.10:g.133679668G>C

Select item 14863623368.

rs1486362336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:134546684 (GRCh38)
X:133680714 (GRCh37)
Canonical SPDI:: NC_000023.11:134546683:A:G
Gene:: MIR503HG (Varview), MIR424 (Varview), MIR503 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.134546684A>G, NC_000023.10:g.133680714A>G, NR_029946.1:n.28T>C

Select item 14853254939.

rs1485325493 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:134547777 (GRCh38)
X:133681807 (GRCh37)
Canonical SPDI:: NC_000023.11:134547776:T:C
Gene:: MIR503HG (Varview), MIR424 (Varview), MIR503 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/3 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.134547777T>C, NC_000023.10:g.133681807T>C

Select item 148364966210.

rs1483649662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:134546805 (GRCh38)
X:133680835 (GRCh37)
Canonical SPDI:: NC_000023.11:134546804:A:G
Gene:: MIR503HG (Varview), MIR424 (Varview), MIR503 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.134546805A>G, NC_000023.10:g.133680835A>G

Select item 148294010211.

rs1482940102 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:134547397 (GRCh38)
X:133681428 (GRCh37)
Canonical SPDI:: NC_000023.11:134547397:GG:GGG
Gene:: MIR503HG (Varview), MIR424 (Varview), MIR503 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.134547399dup, NC_000023.10:g.133681429dup

Select item 148231486712.

rs1482314867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:134543554 (GRCh38)
X:133677584 (GRCh37)
Canonical SPDI:: NC_000023.11:134543553:T:A
Gene:: MIR503HG (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.134543554T>A, NC_000023.10:g.133677584T>A, NR_024607.1:n.609A>T

Select item 148226519113.

rs1482265191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:134544927 (GRCh38)
X:133678957 (GRCh37)
Canonical SPDI:: NC_000023.11:134544926:T:C
Gene:: MIR503HG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.134544927T>C, NC_000023.10:g.133678957T>C

Select item 148102305614.

rs1481023056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:134543961 (GRCh38)
X:133677991 (GRCh37)
Canonical SPDI:: NC_000023.11:134543960:G:T
Gene:: MIR503HG (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.134543961G>T, NC_000023.10:g.133677991G>T, NR_024607.1:n.202C>A

Select item 148050801815.

rs1480508018 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: X:134543923 (GRCh38)
X:133677953 (GRCh37)
Canonical SPDI:: NC_000023.11:134543922:G:
Gene:: MIR503HG (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.134543923del, NC_000023.10:g.133677953del, NR_024607.1:n.240del

Select item 148042103416.

rs1480421034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:134543262 (GRCh38)
X:133677292 (GRCh37)
Canonical SPDI:: NC_000023.11:134543261:G:A
Gene:: MIR503HG (Varview), MIR542 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.134543262G>A, NC_000023.10:g.133677292G>A

Select item 147869368217.

rs1478693682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:134548233 (GRCh38)
X:133682263 (GRCh37)
Canonical SPDI:: NC_000023.11:134548232:T:C
Gene:: MIR503HG (Varview), MIR424 (Varview), MIR503 (Varview), LINC00629 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.134548233T>C, NC_000023.10:g.133682263T>C

Select item 147837958218.

rs1478379582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:134547442 (GRCh38)
X:133681472 (GRCh37)
Canonical SPDI:: NC_000023.11:134547441:A:G
Gene:: MIR503HG (Varview), MIR424 (Varview), MIR503 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.134547442A>G, NC_000023.10:g.133681472A>G

Select item 147748091319.

rs1477480913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:134545125 (GRCh38)
X:133679155 (GRCh37)
Canonical SPDI:: NC_000023.11:134545124:T:C
Gene:: MIR503HG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.134545125T>C, NC_000023.10:g.133679155T>C

Select item 147734824720.

rs1477348247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:134546345 (GRCh38)
X:133680375 (GRCh37)
Canonical SPDI:: NC_000023.11:134546344:C:A
Gene:: MIR503HG (Varview), MIR424 (Varview), MIR503 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
HGVS:: NC_000023.11:g.134546345C>A, NC_000023.10:g.133680375C>A, NR_030228.1:n.54G>T

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