MIR4782 - SNP

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Select item 11393271.

rs1139327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:113722069 (GRCh38)
2:114479646 (GRCh37)
Canonical SPDI:: NC_000002.12:113722068:G:A,NC_000002.12:113722068:G:C
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.047248/771 (ALFA)
A=0.02311/387 (TOMMO)
A=0.033539/98 (KOREAN)
A=0.037664/69 (Korea1K)
A=0.086977/436 (1000Genomes)
A=0.092593/20 (Qatari)
A=0.103263/462 (Estonian)
A=0.106717/28247 (TOPMED)
A=0.125251/125 (GoNL)
A=0.171667/103 (NorthernSweden)
A=0.175/7 (GENOME_DK)
G=0.454545/40 (SGDP_PRJ)
G=0.5/5 (Siberian)
HGVS:: NC_000002.12:g.113722069G>A, NC_000002.12:g.113722069G>C, NC_000002.11:g.114479646G>A, NC_000002.11:g.114479646G>C

Select item 38351092.

rs3835109 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAC [Show Flanks]
Chromosome:: 2:113723235 (GRCh38)
2:114480813 (GRCh37)
Canonical SPDI:: NC_000002.12:113723235:AAC:AACAAC
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAC=0.260237/6533 (ALFA)
-=0.206027/923 (Estonian)
-=0.211667/127 (NorthernSweden)
-=0.235167/872 (TWINSUK)
-=0.25/10 (GENOME_DK)
-=0.2548/982 (ALSPAC)
-=0.256513/256 (GoNL)
-=0.301418/3655 (GoESP)
-=0.308728/43075 (GnomAD)
-=0.311449/54987 (GnomAD_exomes)
-=0.313081/28548 (ExAC)
AAC=0.329983/5531 (TOMMO)
-=0.332294/87955 (TOPMED)
AAC=0.35262/646 (Korea1K)
-=0.414741/2077 (1000Genomes)
HGVS:: NC_000002.12:g.113723236_113723238dup, NC_000002.11:g.114480813_114480815dup

Select item 101836933.

rs10183693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113722840 (GRCh38)
2:114480417 (GRCh37)
Canonical SPDI:: NC_000002.12:113722839:G:A
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000002.12:g.113722840G>A, NC_000002.11:g.114480417G>A

Select item 102054674.

rs10205467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113722600 (GRCh38)
2:114480177 (GRCh37)
Canonical SPDI:: NC_000002.12:113722599:C:T
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.466818/32343 (ALFA)
T=0.082177/1377 (TOMMO)
T=0.132765/389 (KOREAN)
T=0.21028/45 (Vietnamese)
T=0.332317/109 (HapMap)
C=0.35/105 (SGDP_PRJ)
C=0.375/15 (GENOME_DK)
C=0.375/15 (Siberian)
T=0.37539/1880 (1000Genomes)
C=0.439815/95 (Qatari)
C=0.443333/266 (NorthernSweden)
C=0.44795/1661 (TWINSUK)
C=0.454464/2036 (Estonian)
C=0.463934/1788 (ALSPAC)
T=0.465654/123254 (TOPMED)
T=0.478541/66968 (GnomAD)
C=0.485972/485 (GoNL)
HGVS:: NC_000002.12:g.113722600C>T, NC_000002.11:g.114480177C>T

Select item 106158895.

rs10615889 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATT>-,AATTAATT [Show Flanks]
Chromosome:: 2:113721830 (GRCh38)
2:114479407 (GRCh37)
Canonical SPDI:: NC_000002.12:113721824:TAATTAATT:TAATT,NC_000002.12:113721824:TAATTAATT:TAATTAATTAATT
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAATTAATT=0.483855/8961 (ALFA)
-=0.082177/1377 (TOMMO)
-=0.212264/45 (Vietnamese)
TAAT=0.375/15 (GENOME_DK)
-=0.375547/1881 (1000Genomes)
TAAT=0.44822/1662 (TWINSUK)
TAAT=0.448333/269 (NorthernSweden)
TAAT=0.45625/2044 (Estonian)
TAAT=0.463415/1786 (ALSPAC)
-=0.465386/123183 (TOPMED)
-=0.476226/66464 (GnomAD)
TAAT=0.485972/485 (GoNL)
HGVS:: NC_000002.12:g.113721826AATT[1], NC_000002.12:g.113721826AATT[3], NC_000002.11:g.114479403AATT[1], NC_000002.11:g.114479403AATT[3]

Select item 118924826.

rs11892482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113723286 (GRCh38)
2:114480863 (GRCh37)
Canonical SPDI:: NC_000002.12:113723285:G:A
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00215/31 (ALFA)
A=0.002186/11 (1000Genomes)
A=0.00299/419 (GnomAD)
A=0.003143/832 (TOPMED)
HGVS:: NC_000002.12:g.113723286G>A, NC_000002.11:g.114480863G>A

Select item 176832557.

rs17683255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:113722971 (GRCh38)
2:114480548 (GRCh37)
Canonical SPDI:: NC_000002.12:113722970:A:G
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.058514/1156 (ALFA)
G=0.002183/4 (Korea1K)
G=0.003765/11 (KOREAN)
G=0.013873/233 (TOMMO)
G=0.023364/5 (Vietnamese)
G=0.025/1 (GENOME_DK)
G=0.031447/10 (HapMap)
G=0.046816/25 (MGP)
G=0.047728/3756 (PAGE_STUDY)
G=0.05435/7622 (GnomAD)
G=0.054384/14395 (TOPMED)
G=0.056667/34 (NorthernSweden)
G=0.060431/303 (1000Genomes)
G=0.062013/239 (ALSPAC)
G=0.063126/63 (GoNL)
G=0.068231/253 (TWINSUK)
G=0.070982/318 (Estonian)
G=0.073192/83 (Daghestan)
G=0.074074/16 (Qatari)
A=0.5/3 (Siberian)
A=0.5/34 (SGDP_PRJ)
HGVS:: NC_000002.12:g.113722971A>G, NC_000002.11:g.114480548A>G

Select item 341155568.

rs34115556 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:113721037 (GRCh38)
2:114478615 (GRCh37)
Canonical SPDI:: NC_000002.12:113721037:GG:GGG
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
HGVS:: NC_000002.12:g.113721039dup, NC_000002.11:g.114478616dup

Select item 352552609.

rs35255260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113722303 (GRCh38)
2:114479880 (GRCh37)
Canonical SPDI:: NC_000002.12:113722302:T:C
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.14558/2750 (ALFA)
C=0.016209/272 (TOMMO)
C=0.028747/84 (KOREAN)
C=0.07995/400 (1000Genomes)
C=0.083333/18 (Qatari)
C=0.119865/31727 (TOPMED)
C=0.125251/125 (GoNL)
C=0.12704/17796 (GnomAD)
C=0.149715/577 (ALSPAC)
C=0.153333/92 (NorthernSweden)
C=0.159655/592 (TWINSUK)
C=0.182143/816 (Estonian)
C=0.2/8 (GENOME_DK)
T=0.44898/44 (SGDP_PRJ)
T=0.5/9 (Siberian)
HGVS:: NC_000002.12:g.113722303T>C, NC_000002.11:g.114479880T>C

Select item 3553769710.

rs35537697 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACACA [Show Flanks]
Chromosome:: 2:113722404 (GRCh38)
2:114479981 (GRCh37)
Canonical SPDI:: NC_000002.12:113722388:ACACACACACACACACACA:ACACACACACACACA,NC_000002.12:113722388:ACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:113722388:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:113722388:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000002.12:113722388:ACACACACACACACACACA:ACACACACACACACACACACACACACA
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACACACA=0.0001/1 (ALFA)
HGVS:: NC_000002.12:g.113722390CA[7], NC_000002.12:g.113722390CA[8], NC_000002.12:g.113722390CA[10], NC_000002.12:g.113722390CA[11], NC_000002.12:g.113722390CA[13], NC_000002.11:g.114479967CA[7], NC_000002.11:g.114479967CA[8], NC_000002.11:g.114479967CA[10], NC_000002.11:g.114479967CA[11], NC_000002.11:g.114479967CA[13]

Select item 3557338711.

rs35573387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113721721 (GRCh38)
2:114479298 (GRCh37)
Canonical SPDI:: NC_000002.12:113721720:G:A
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.068682/1318 (ALFA)
A=0.000546/1 (Korea1K)
A=0.019207/96 (1000Genomes)
A=0.04557/12062 (TOPMED)
A=0.050597/7082 (GnomAD)
A=0.072144/72 (GoNL)
A=0.07862/303 (ALSPAC)
A=0.087379/324 (TWINSUK)
A=0.095/57 (NorthernSweden)
A=0.1/4 (GENOME_DK)
A=0.108482/486 (Estonian)
G=0.5/10 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000002.12:g.113721721G>A, NC_000002.11:g.114479298G>A

Select item 3573703112.

rs35737031 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 2:113723361 (GRCh38)
2:114480939 (GRCh37)
Canonical SPDI:: NC_000002.12:113723361:A:AAA
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.262257/4857 (ALFA)
-=0.20625/924 (Estonian)
-=0.211667/127 (NorthernSweden)
-=0.234898/871 (TWINSUK)
-=0.25/10 (GENOME_DK)
-=0.252984/975 (ALSPAC)
-=0.256513/256 (GoNL)
-=0.297165/41505 (GnomAD)
-=0.317723/84098 (TOPMED)
AA=0.330018/5531 (TOMMO)
AA=0.35262/646 (Korea1K)
-=0.403342/2020 (1000Genomes)
HGVS:: NC_000002.12:g.113723362_113723363insAA, NC_000002.11:g.114480939_114480940insAA

Select item 6692111113.

rs66921111 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACA [Show Flanks]
Chromosome:: 2:113723236 (GRCh38)
2:114480814 (GRCh37)
Canonical SPDI:: NC_000002.12:113723236:A:AACA
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
HGVS:: NC_000002.12:g.113723237_113723238insACA, NC_000002.11:g.114480814_114480815insACA

Select item 7129719214.

rs71297192 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:113721979 (GRCh38)
2:114479556 (GRCh37)
Canonical SPDI:: NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113721971:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.113721979_113721992del, NC_000002.12:g.113721981_113721992del, NC_000002.12:g.113721982_113721992del, NC_000002.12:g.113721983_113721992del, NC_000002.12:g.113721985_113721992del, NC_000002.12:g.113721986_113721992del, NC_000002.12:g.113721988_113721992del, NC_000002.12:g.113721989_113721992del, NC_000002.12:g.113721990_113721992del, NC_000002.12:g.113721991_113721992del, NC_000002.12:g.113721992del, NC_000002.12:g.113721992dup, NC_000002.12:g.113721991_113721992dup, NC_000002.12:g.113721990_113721992dup, NC_000002.12:g.113721989_113721992dup, NC_000002.12:g.113721988_113721992dup, NC_000002.12:g.113721987_113721992dup, NC_000002.12:g.113721986_113721992dup, NC_000002.12:g.113721985_113721992dup, NC_000002.12:g.113721984_113721992dup, NC_000002.12:g.113721983_113721992dup, NC_000002.12:g.113721982_113721992dup, NC_000002.12:g.113721981_113721992dup, NC_000002.12:g.113721980_113721992dup, NC_000002.12:g.113721979_113721992dup, NC_000002.12:g.113721978_113721992dup, NC_000002.12:g.113721992_113721993insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.113721992_113721993insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.113721992_113721993insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.113721992_113721993insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.113721992_113721993insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.113721992_113721993insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.114479556_114479569del, NC_000002.11:g.114479558_114479569del, NC_000002.11:g.114479559_114479569del, NC_000002.11:g.114479560_114479569del, NC_000002.11:g.114479562_114479569del, NC_000002.11:g.114479563_114479569del, NC_000002.11:g.114479565_114479569del, NC_000002.11:g.114479566_114479569del, NC_000002.11:g.114479567_114479569del, NC_000002.11:g.114479568_114479569del, NC_000002.11:g.114479569del, NC_000002.11:g.114479569dup, NC_000002.11:g.114479568_114479569dup, NC_000002.11:g.114479567_114479569dup, NC_000002.11:g.114479566_114479569dup, NC_000002.11:g.114479565_114479569dup, NC_000002.11:g.114479564_114479569dup, NC_000002.11:g.114479563_114479569dup, NC_000002.11:g.114479562_114479569dup, NC_000002.11:g.114479561_114479569dup, NC_000002.11:g.114479560_114479569dup, NC_000002.11:g.114479559_114479569dup, NC_000002.11:g.114479558_114479569dup, NC_000002.11:g.114479557_114479569dup, NC_000002.11:g.114479556_114479569dup, NC_000002.11:g.114479555_114479569dup, NC_000002.11:g.114479569_114479570insTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.114479569_114479570insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.114479569_114479570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.114479569_114479570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.114479569_114479570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.114479569_114479570insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 7283364215.

rs72833642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:113722601 (GRCh38)
2:114480178 (GRCh37)
Canonical SPDI:: NC_000002.12:113722600:G:A
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00397/75 (ALFA)
A=0.001116/5 (Estonian)
A=0.003006/3 (GoNL)
A=0.003435/17 (1000Genomes)
A=0.00351/492 (GnomAD)
A=0.004045/15 (TWINSUK)
A=0.004065/1076 (TOPMED)
A=0.004152/16 (ALSPAC)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.113722601G>A, NC_000002.11:g.114480178G>A

Select item 7395505516.

rs73955055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:113722480 (GRCh38)
2:114480057 (GRCh37)
Canonical SPDI:: NC_000002.12:113722479:T:C,NC_000002.12:113722479:T:G
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.145977/2072 (ALFA)
C=0.042433/711 (TOMMO)
C=0.063319/116 (Korea1K)
C=0.071331/209 (KOREAN)
C=0.175926/38 (Vietnamese)
C=0.199094/997 (1000Genomes)
C=0.230073/60898 (TOPMED)
C=0.232341/32537 (GnomAD)
C=0.233333/140 (NorthernSweden)
C=0.25/10 (GENOME_DK)
C=0.255838/986 (ALSPAC)
C=0.257812/1155 (Estonian)
C=0.260518/966 (TWINSUK)
C=0.263527/263 (GoNL)
C=0.37963/82 (Qatari)
T=0.421053/64 (SGDP_PRJ)
T=0.5/11 (Siberian)
HGVS:: NC_000002.12:g.113722480T>C, NC_000002.12:g.113722480T>G, NC_000002.11:g.114480057T>C, NC_000002.11:g.114480057T>G

Select item 7395505617.

rs73955056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:113723304 (GRCh38)
2:114480881 (GRCh37)
Canonical SPDI:: NC_000002.12:113723303:A:G,NC_000002.12:113723303:A:T
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.184541/4560 (ALFA)
G=0.042433/711 (TOMMO)
G=0.063319/116 (Korea1K)
G=0.07138/209 (KOREAN)
G=0.158879/34 (Vietnamese)
G=0.199719/1000 (1000Genomes)
G=0.230243/60943 (TOPMED)
G=0.232475/32539 (GnomAD)
G=0.233333/140 (NorthernSweden)
G=0.25506/983 (ALSPAC)
G=0.257812/1155 (Estonian)
G=0.260787/967 (TWINSUK)
G=0.261523/261 (GoNL)
G=0.275/11 (GENOME_DK)
G=0.37963/82 (Qatari)
A=0.421053/64 (SGDP_PRJ)
A=0.5/11 (Siberian)
HGVS:: NC_000002.12:g.113723304A>G, NC_000002.12:g.113723304A>T, NC_000002.11:g.114480881A>G, NC_000002.11:g.114480881A>T

Select item 7545015118.

rs75450151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:113722678 (GRCh38)
2:114480255 (GRCh37)
Canonical SPDI:: NC_000002.12:113722677:C:G
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.019209/277 (ALFA)
G=0./0 (ALSPAC)
G=0.00027/1 (TWINSUK)
G=0.023148/5 (Qatari)
G=0.026754/3752 (GnomAD)
G=0.027632/7314 (TOPMED)
G=0.028576/143 (1000Genomes)
C=0.5/7 (SGDP_PRJ)
HGVS:: NC_000002.12:g.113722678C>G, NC_000002.11:g.114480255C>G

Select item 11247455719.

rs112474557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:113721968 (GRCh38)
2:114479545 (GRCh37)
Canonical SPDI:: NC_000002.12:113721967:T:C
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.009432/154 (ALFA)
C=0.003333/2 (NorthernSweden)
C=0.003904/20 (1000Genomes)
C=0.007596/34 (Estonian)
C=0.008206/2172 (TOPMED)
C=0.008769/1154 (GnomAD)
C=0.009259/2 (Qatari)
C=0.010518/39 (TWINSUK)
C=0.015568/60 (ALSPAC)
C=0.025/1 (GENOME_DK)
T=0.5/7 (SGDP_PRJ)
HGVS:: NC_000002.12:g.113721968T>C, NC_000002.11:g.114479545T>C

Select item 11346909820.

rs113469098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:113721346 (GRCh38)
2:114478923 (GRCh37)
Canonical SPDI:: NC_000002.12:113721345:C:T
Gene:: SLC35F5 (Varview), MIR4782 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.009635/182 (ALFA)
T=0.001667/1 (NorthernSweden)
T=0.003348/15 (Estonian)
T=0.003435/17 (1000Genomes)
T=0.00926/2451 (TOPMED)
T=0.009897/1381 (GnomAD)
T=0.012136/45 (TWINSUK)
T=0.012714/49 (ALSPAC)
T=0.013026/13 (GoNL)
T=0.014205/5 (GnomAD_exomes)
T=0.018519/4 (Qatari)
T=0.025/1 (GENOME_DK)
HGVS:: NC_000002.12:g.113721346C>T, NC_000002.11:g.114478923C>T, NR_039943.1:n.23G>A

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