SNP Links for Gene (Select 100313884) - SNP

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Select item 14910135821.

rs1491013582 has merged into rs11339368 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 8:27048648 (GRCh38)
8:26906165 (GRCh37)
Canonical SPDI:: NC_000008.11:27048637:AAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:27048637:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:27048637:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:27048637:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:27048637:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:27048637:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:27048637:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: MIR548H4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0.0001/1 (ALFA)
A=0.1867/935 (1000Genomes)
A=0.26/1002 (ALSPAC)
A=0.2713/1006 (TWINSUK)
HGVS:: NC_000008.11:g.27048648_27048649del, NC_000008.11:g.27048649del, NC_000008.11:g.27048649dup, NC_000008.11:g.27048648_27048649dup, NC_000008.11:g.27048647_27048649dup, NC_000008.11:g.27048646_27048649dup, NC_000008.11:g.27048645_27048649dup, NC_000008.10:g.26906165_26906166del, NC_000008.10:g.26906166del, NC_000008.10:g.26906166dup, NC_000008.10:g.26906165_26906166dup, NC_000008.10:g.26906164_26906166dup, NC_000008.10:g.26906163_26906166dup, NC_000008.10:g.26906162_26906166dup

Select item 14909824892.

rs1490982489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:27050421 (GRCh38)
8:26907938 (GRCh37)
Canonical SPDI:: NC_000008.11:27050420:G:A
Gene:: MIR548H4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.27050421G>A, NC_000008.10:g.26907938G>A

Select item 14903738593.

rs1490373859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:27049455 (GRCh38)
8:26906972 (GRCh37)
Canonical SPDI:: NC_000008.11:27049454:C:G,NC_000008.11:27049454:C:T
Gene:: MIR548H4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27049455C>G, NC_000008.11:g.27049455C>T, NC_000008.10:g.26906972C>G, NC_000008.10:g.26906972C>T

Select item 14898197394.

rs1489819739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:27050908 (GRCh38)
8:26908425 (GRCh37)
Canonical SPDI:: NC_000008.11:27050907:G:A,NC_000008.11:27050907:G:C
Gene:: MIR548H4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.27050908G>A, NC_000008.11:g.27050908G>C, NC_000008.10:g.26908425G>A, NC_000008.10:g.26908425G>C

Select item 14890568735.

rs1489056873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 8:27048638 (GRCh38)
8:26906155 (GRCh37)
Canonical SPDI:: NC_000008.11:27048637:A:C,NC_000008.11:27048637:A:T
Gene:: MIR548H4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000015/1 (GnomAD)
HGVS:: NC_000008.11:g.27048638A>C, NC_000008.11:g.27048638A>T, NC_000008.10:g.26906155A>C, NC_000008.10:g.26906155A>T

Select item 14885681406.

rs1488568140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:27049185 (GRCh38)
8:26906702 (GRCh37)
Canonical SPDI:: NC_000008.11:27049184:A:G
Gene:: MIR548H4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27049185A>G, NC_000008.10:g.26906702A>G

Select item 14884978027.

rs1488497802 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:27048645 (GRCh38)
8:26906163 (GRCh37)
Canonical SPDI:: NC_000008.11:27048645::T
Gene:: MIR548H4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.27048645_27048646insT, NC_000008.10:g.26906162_26906163insT

Select item 14881200378.

rs1488120037 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTTTAATTACTTTACGTTTC [Show Flanks]
Chromosome:: 8:27048899 (GRCh38)
8:26906417 (GRCh37)
Canonical SPDI:: NC_000008.11:27048899::CTTTAATTACTTTACGTTTC
Gene:: MIR548H4 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000008.11:g.27048899_27048900insCTTTAATTACTTTACGTTTC, NC_000008.10:g.26906416_26906417insCTTTAATTACTTTACGTTTC, NR_031680.1:n.64_65insGAAACGTAAAGTAATTAAAG

Select item 14880099209.

rs1488009920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:27049075 (GRCh38)
8:26906592 (GRCh37)
Canonical SPDI:: NC_000008.11:27049074:T:A,NC_000008.11:27049074:T:C
Gene:: MIR548H4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.27049075T>A, NC_000008.11:g.27049075T>C, NC_000008.10:g.26906592T>A, NC_000008.10:g.26906592T>C

Select item 148788441110.

rs1487884411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:27050309 (GRCh38)
8:26907826 (GRCh37)
Canonical SPDI:: NC_000008.11:27050308:G:A
Gene:: MIR548H4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27050309G>A, NC_000008.10:g.26907826G>A

Select item 148045623311.

rs1480456233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:27049516 (GRCh38)
8:26907033 (GRCh37)
Canonical SPDI:: NC_000008.11:27049515:C:G
Gene:: MIR548H4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.27049516C>G, NC_000008.10:g.26907033C>G

Select item 147852081912.

rs1478520819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:27049577 (GRCh38)
8:26907094 (GRCh37)
Canonical SPDI:: NC_000008.11:27049576:C:A
Gene:: MIR548H4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.27049577C>A, NC_000008.10:g.26907094C>A

Select item 147754253513.

rs1477542535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:27050075 (GRCh38)
8:26907592 (GRCh37)
Canonical SPDI:: NC_000008.11:27050074:T:C
Gene:: MIR548H4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27050075T>C, NC_000008.10:g.26907592T>C

Select item 147674775514.

rs1476747755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:27048504 (GRCh38)
8:26906021 (GRCh37)
Canonical SPDI:: NC_000008.11:27048503:G:A
Gene:: MIR548H4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.27048504G>A, NC_000008.10:g.26906021G>A

Select item 147467802715.

rs1474678027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:27050604 (GRCh38)
8:26908121 (GRCh37)
Canonical SPDI:: NC_000008.11:27050603:G:A
Gene:: MIR548H4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27050604G>A, NC_000008.10:g.26908121G>A

Select item 147376613416.

rs1473766134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:27048659 (GRCh38)
8:26906176 (GRCh37)
Canonical SPDI:: NC_000008.11:27048658:G:A
Gene:: MIR548H4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.27048659G>A, NC_000008.10:g.26906176G>A

Select item 147274859117.

rs1472748591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:27049694 (GRCh38)
8:26907211 (GRCh37)
Canonical SPDI:: NC_000008.11:27049693:T:C
Gene:: MIR548H4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.27049694T>C, NC_000008.10:g.26907211T>C

Select item 147152412718.

rs1471524127 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTAA>- [Show Flanks]
Chromosome:: 8:27048911 (GRCh38)
8:26906428 (GRCh37)
Canonical SPDI:: NC_000008.11:27048906:GTAAAGTAA:GTAA
Gene:: MIR548H4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTAA=0.000071/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.27048911_27048915del, NC_000008.10:g.26906428_26906432del, NR_031680.1:n.53_57del

Select item 146983799019.

rs1469837990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:27050596 (GRCh38)
8:26908113 (GRCh37)
Canonical SPDI:: NC_000008.11:27050595:A:T
Gene:: MIR548H4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.27050596A>T, NC_000008.10:g.26908113A>T

Select item 146841563120.

rs1468415631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:27050065 (GRCh38)
8:26907582 (GRCh37)
Canonical SPDI:: NC_000008.11:27050064:T:C
Gene:: MIR548H4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.27050065T>C, NC_000008.10:g.26907582T>C

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