SNP Links for Gene (Select 574495) - SNP

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Select item 14910351321.

rs1491035132 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:53750369 (GRCh38)
19:54253624 (GRCh37)
Canonical SPDI:: NC_000019.10:53750369:A:AA
Gene:: MIR522 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53750370dup, NC_000019.9:g.54253624dup

Select item 14902458392.

rs1490245839 has merged into rs58665162 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 19:53750419 (GRCh38)
19:54253673 (GRCh37)
Canonical SPDI:: NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000019.10:53750401:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.0986/380 (ALSPAC)
TGTG=0.4533/2270 (1000Genomes)
HGVS:: NC_000019.10:g.53750403GT[8], NC_000019.10:g.53750403GT[11], NC_000019.10:g.53750403GT[12], NC_000019.10:g.53750403GT[13], NC_000019.10:g.53750403GT[14], NC_000019.10:g.53750403GT[15], NC_000019.10:g.53750403GT[16], NC_000019.10:g.53750403GT[17], NC_000019.10:g.53750403GT[18], NC_000019.10:g.53750403GT[19], NC_000019.10:g.53750403GT[20], NC_000019.10:g.53750403GT[21], NC_000019.10:g.53750403GT[22], NC_000019.10:g.53750403GT[24], NC_000019.10:g.53750403GT[25], NC_000019.10:g.53750403GT[26], NC_000019.10:g.53750403GT[27], NC_000019.10:g.53750403GT[28], NC_000019.10:g.53750403GT[29], NC_000019.10:g.53750403GT[30], NC_000019.9:g.54253657GT[8], NC_000019.9:g.54253657GT[11], NC_000019.9:g.54253657GT[12], NC_000019.9:g.54253657GT[13], NC_000019.9:g.54253657GT[14], NC_000019.9:g.54253657GT[15], NC_000019.9:g.54253657GT[16], NC_000019.9:g.54253657GT[17], NC_000019.9:g.54253657GT[18], NC_000019.9:g.54253657GT[19], NC_000019.9:g.54253657GT[20], NC_000019.9:g.54253657GT[21], NC_000019.9:g.54253657GT[22], NC_000019.9:g.54253657GT[24], NC_000019.9:g.54253657GT[25], NC_000019.9:g.54253657GT[26], NC_000019.9:g.54253657GT[27], NC_000019.9:g.54253657GT[28], NC_000019.9:g.54253657GT[29], NC_000019.9:g.54253657GT[30]

Select item 14888679463.

rs1488867946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53750404 (GRCh38)
19:54253658 (GRCh37)
Canonical SPDI:: NC_000019.10:53750403:T:C
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53750404T>C, NC_000019.9:g.54253658T>C

Select item 14881317244.

rs1488131724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53750797 (GRCh38)
19:54254051 (GRCh37)
Canonical SPDI:: NC_000019.10:53750796:G:T
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53750797G>T, NC_000019.9:g.54254051G>T

Select item 14878611105.

rs1487861110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53749233 (GRCh38)
19:54252487 (GRCh37)
Canonical SPDI:: NC_000019.10:53749232:A:G
Gene:: MIR522 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.53749233A>G, NC_000019.9:g.54252487A>G

Select item 14865706716.

rs1486570671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53751278 (GRCh38)
19:54254532 (GRCh37)
Canonical SPDI:: NC_000019.10:53751277:T:C
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53751278T>C, NC_000019.9:g.54254532T>C, NR_030217.1:n.68T>C

Select item 14863156247.

rs1486315624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53751003 (GRCh38)
19:54254257 (GRCh37)
Canonical SPDI:: NC_000019.10:53751002:A:G
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.53751003A>G, NC_000019.9:g.54254257A>G

Select item 14857611908.

rs1485761190 [Homo sapiens]

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

Select item 14834732269.

rs1483473226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53751016 (GRCh38)
19:54254270 (GRCh37)
Canonical SPDI:: NC_000019.10:53751015:A:G
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53751016A>G, NC_000019.9:g.54254270A>G

Select item 148310035010.

rs1483100350 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:53751474 (GRCh38)
19:54254728 (GRCh37)
Canonical SPDI:: NC_000019.10:53751473:A:C,NC_000019.10:53751473:A:G
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.53751474A>C, NC_000019.10:g.53751474A>G, NC_000019.9:g.54254728A>C, NC_000019.9:g.54254728A>G

Select item 148261220511.

rs1482612205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:53751182 (GRCh38)
19:54254436 (GRCh37)
Canonical SPDI:: NC_000019.10:53751181:A:C
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53751182A>C, NC_000019.9:g.54254436A>C

Select item 148159581612.

rs1481595816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:53749567 (GRCh38)
19:54252821 (GRCh37)
Canonical SPDI:: NC_000019.10:53749566:G:C
Gene:: MIR522 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53749567G>C, NC_000019.9:g.54252821G>C

Select item 148150578613.

rs1481505786 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGT>- [Show Flanks]
Chromosome:: 19:53750401 (GRCh38)
19:54253655 (GRCh37)
Canonical SPDI:: NC_000019.10:53750399:TTTGT:T
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.53750401_53750404del, NC_000019.9:g.54253655_54253658del

Select item 147755335014.

rs1477553350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:53751132 (GRCh38)
19:54254386 (GRCh37)
Canonical SPDI:: NC_000019.10:53751131:T:C,NC_000019.10:53751131:T:G
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.53751132T>C, NC_000019.10:g.53751132T>G, NC_000019.9:g.54254386T>C, NC_000019.9:g.54254386T>G

Select item 147740250315.

rs1477402503 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAAAA>- [Show Flanks]
Chromosome:: 19:53749833 (GRCh38)
19:54253087 (GRCh37)
Canonical SPDI:: NC_000019.10:53749827:TAAAAGTAAAA:TAAAA
Gene:: MIR522 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAAAA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53749833_53749838del, NC_000019.9:g.54253087_54253092del, NG_043120.1:g.219_224del

Select item 147734376016.

rs1477343760 [Homo sapiens]

Variant type:: DEL
Alleles:: TGCCTGTAATCCCAGCCCTTTGGGAGGCCGAGACAGGT>- [Show Flanks]
Chromosome:: 19:53749262 (GRCh38)
19:54252516 (GRCh37)
Canonical SPDI:: NC_000019.10:53749261:TGCCTGTAATCCCAGCCCTTTGGGAGGCCGAGACAGGT:
Gene:: MIR522 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53749262_53749299del, NC_000019.9:g.54252516_54252553del

Select item 147313665117.

rs1473136651 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGT>- [Show Flanks]
Chromosome:: 19:53750806 (GRCh38)
19:54254060 (GRCh37)
Canonical SPDI:: NC_000019.10:53750802:TGTTTGT:TGT
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53750806_53750809del, NC_000019.9:g.54254060_54254063del

Select item 147274796918.

rs1472747969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53751540 (GRCh38)
19:54254794 (GRCh37)
Canonical SPDI:: NC_000019.10:53751539:G:A
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000546/1 (Korea1K)
A=0.001027/3 (KOREAN)
HGVS:: NC_000019.10:g.53751540G>A, NC_000019.9:g.54254794G>A

Select item 147171499019.

rs1471714990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53751085 (GRCh38)
19:54254339 (GRCh37)
Canonical SPDI:: NC_000019.10:53751084:G:T
Gene:: MIR522 (Varview), MIR519A1 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53751085G>T, NC_000019.9:g.54254339G>T

Select item 147142902920.

rs1471429029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53749591 (GRCh38)
19:54252845 (GRCh37)
Canonical SPDI:: NC_000019.10:53749590:A:G
Gene:: MIR522 (Varview), LOC124904765 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53749591A>G, NC_000019.9:g.54252845A>G

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