SNP Links for Nucleotide (Select 261823971) - SNP

Links from Nucleotide

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Select item 14888693681.

rs1488869368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:55450589 (GRCh38)
X:55477022 (GRCh37)
Canonical SPDI:: NC_000023.11:55450588:C:G
Gene:: MAGEH1 (Varview), MIR4536-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.55450589C>G, NC_000023.10:g.55477022C>G, NG_013248.1:g.3485C>G

Select item 14877073462.

rs1487707346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:55452070 (GRCh38)
X:55478503 (GRCh37)
Canonical SPDI:: NC_000023.11:55452069:G:A
Gene:: MAGEH1 (Varview), MIR4536-1 (Varview), MIR4536-2 (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./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.55452070G>A, NC_000023.10:g.55478503G>A, NG_013248.1:g.4966G>A

Select item 14872692763.

rs1487269276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:55453086 (GRCh38)
X:55479519 (GRCh37)
Canonical SPDI:: NC_000023.11:55453085:A:T
Gene:: MAGEH1 (Varview), MIR4536-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.55453086A>T, NC_000023.10:g.55479519A>T, NG_013248.1:g.5982A>T, NM_014061.5:c.*52A>T, NM_014061.4:c.*52A>T, NM_014061.3:c.*52A>T

Select item 14872559974.

rs1487255997 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:55453537 (GRCh38)
X:55479970 (GRCh37)
Canonical SPDI:: NC_000023.11:55453536:T:C,NC_000023.11:55453536:T:G
Gene:: MAGEH1 (Varview), MIR4536-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
C=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.55453537T>C, NC_000023.11:g.55453537T>G, NC_000023.10:g.55479970T>C, NC_000023.10:g.55479970T>G, NG_013248.1:g.6433T>C, NG_013248.1:g.6433T>G, NM_014061.5:c.*503T>C, NM_014061.5:c.*503T>G, NM_014061.4:c.*503T>C, NM_014061.4:c.*503T>G, NM_014061.3:c.*503T>C, NM_014061.3:c.*503T>G

Select item 14872082785.

rs1487208278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:55451908 (GRCh38)
X:55478341 (GRCh37)
Canonical SPDI:: NC_000023.11:55451907:C:A
Gene:: MAGEH1 (Varview), MIR4536-1 (Varview), MIR4536-2 (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./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.55451908C>A, NC_000023.10:g.55478341C>A, NG_013248.1:g.4804C>A

Select item 14869335666.

rs1486933566 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAA>- [Show Flanks]
Chromosome:: X:55448548 (GRCh38)
X:55474981 (GRCh37)
Canonical SPDI:: NC_000023.11:55448544:AAACAAA:AAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000029/3 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.55448548_55448551del, NC_000023.10:g.55474981_55474984del, NG_013248.1:g.1444_1447del

Select item 14869088927.

rs1486908892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:55449348 (GRCh38)
X:55475781 (GRCh37)
Canonical SPDI:: NC_000023.11:55449347:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.55449348C>A, NC_000023.10:g.55475781C>A, NG_013248.1:g.2244C>A

Select item 14859172368.

rs1485917236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:55448710 (GRCh38)
X:55475143 (GRCh37)
Canonical SPDI:: NC_000023.11:55448709:C:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.55448710C>G, NC_000023.10:g.55475143C>G, NG_013248.1:g.1606C>G

Select item 14857383789.

rs1485738378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:55448482 (GRCh38)
X:55474915 (GRCh37)
Canonical SPDI:: NC_000023.11:55448481:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.55448482G>A, NC_000023.10:g.55474915G>A, NG_013248.1:g.1378G>A

Select item 148526944310.

rs1485269443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:55449956 (GRCh38)
X:55476389 (GRCh37)
Canonical SPDI:: NC_000023.11:55449955:G:C
Gene:: MIR4536-2 (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_000023.11:g.55449956G>C, NC_000023.10:g.55476389G>C, NG_013248.1:g.2852G>C

Select item 148484191911.

rs1484841919 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATGAGATACCATCTCACAC>- [Show Flanks]
Chromosome:: X:55448697 (GRCh38)
X:55475130 (GRCh37)
Canonical SPDI:: NC_000023.11:55448693:CACAATGAGATACCATCTCACAC:CAC
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.55448697_55448716del, NC_000023.10:g.55475130_55475149del, NG_013248.1:g.1593_1612del

Select item 148418933412.

rs1484189334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:55451451 (GRCh38)
X:55477884 (GRCh37)
Canonical SPDI:: NC_000023.11:55451450:C:T
Gene:: MAGEH1 (Varview), MIR4536-1 (Varview), MIR4536-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/3 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000023.11:g.55451451C>T, NC_000023.10:g.55477884C>T, NG_013248.1:g.4347C>T

Select item 148287279113.

rs1482872791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:55447588 (GRCh38)
X:55474021 (GRCh37)
Canonical SPDI:: NC_000023.11:55447587:C:A,NC_000023.11:55447587:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000039/4 (GnomAD)
A=0.031828/93 (KOREAN)
HGVS:: NC_000023.11:g.55447588C>A, NC_000023.11:g.55447588C>T, NC_000023.10:g.55474021C>A, NC_000023.10:g.55474021C>T, NG_013248.1:g.484C>A, NG_013248.1:g.484C>T

Select item 148279500714.

rs1482795007 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: X:55453191 (GRCh38)
X:55479624 (GRCh37)
Canonical SPDI:: NC_000023.11:55453188:AGAG:AG
Gene:: MAGEH1 (Varview), MIR4536-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.55453189AG[1], NC_000023.10:g.55479622AG[1], NG_013248.1:g.6085AG[1], NM_014061.5:c.*155AG[1], NM_014061.4:c.*155AG[1], NM_014061.3:c.*155AG[1]

Select item 148248697415.

rs1482486974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:55451500 (GRCh38)
X:55477933 (GRCh37)
Canonical SPDI:: NC_000023.11:55451499:G:A
Gene:: MAGEH1 (Varview), MIR4536-1 (Varview), MIR4536-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.55451500G>A, NC_000023.10:g.55477933G>A, NG_013248.1:g.4396G>A, NR_039764.2:n.83C>T, NR_039764.1:n.41G>A, NR_130469.1:n.6G>A

Select item 148232282116.

rs1482322821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:55448198 (GRCh38)
X:55474631 (GRCh37)
Canonical SPDI:: NC_000023.11:55448197:G:C
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.55448198G>C, NC_000023.10:g.55474631G>C, NG_013248.1:g.1094G>C

Select item 148110610917.

rs1481106109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:55449272 (GRCh38)
X:55475705 (GRCh37)
Canonical SPDI:: NC_000023.11:55449271:A:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.55449272A>C, NC_000023.10:g.55475705A>C, NG_013248.1:g.2168A>C

Select item 147882743718.

rs1478827437 has merged into rs771082167 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTATGTAT>-,GTAT,GTATGTATGTAT [Show Flanks]
Chromosome:: X:55451533 (GRCh38)
X:55477966 (GRCh37)
Canonical SPDI:: NC_000023.11:55451520:GTATGTATGTATGTATGTAT:GTATGTATGTAT,NC_000023.11:55451520:GTATGTATGTATGTATGTAT:GTATGTATGTATGTAT,NC_000023.11:55451520:GTATGTATGTATGTATGTAT:GTATGTATGTATGTATGTATGTAT
Gene:: MAGEH1 (Varview), MIR4536-1 (Varview), MIR4536-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTATGTATGTATGTATGTATGTAT=0./0 (ALFA)
GTAT=0.00079/3 (1000Genomes)
-=0.00373/48 (TOMMO)
HGVS:: NC_000023.11:g.55451521GTAT[3], NC_000023.11:g.55451521GTAT[4], NC_000023.11:g.55451521GTAT[6], NC_000023.10:g.55477954GTAT[3], NC_000023.10:g.55477954GTAT[4], NC_000023.10:g.55477954GTAT[6], NG_013248.1:g.4417GTAT[3], NG_013248.1:g.4417GTAT[4], NG_013248.1:g.4417GTAT[6], NR_039764.2:n.43ATAC[3], NR_039764.2:n.43ATAC[4], NR_039764.2:n.43ATAC[6], NR_130469.1:n.27GTAT[3], NR_130469.1:n.27GTAT[4], NR_130469.1:n.27GTAT[6]

Select item 147840145819.

rs1478401458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:55452380 (GRCh38)
X:55478813 (GRCh37)
Canonical SPDI:: NC_000023.11:55452379:T:A
Gene:: MAGEH1 (Varview), MIR4536-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.55452380T>A, NC_000023.10:g.55478813T>A, NG_013248.1:g.5276T>A, NM_014061.5:c.6T>A, NM_014061.4:c.6T>A, NM_014061.3:c.6T>A

Select item 147796327620.

rs1477963276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:55448453 (GRCh38)
X:55474886 (GRCh37)
Canonical SPDI:: NC_000023.11:55448452:T:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.55448453T>A, NC_000023.10:g.55474886T>A, NG_013248.1:g.1349T>A

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