SNP Links for Gene (Select 101954273) - SNP

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Select item 14890363261.

rs1489036326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:148362939 (GRCh38)
1:147835071 (GRCh37)
Canonical SPDI:: NC_000001.11:148362938:G:A,NC_000001.11:148362938:G:C
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.148362939G>A, NC_000001.11:g.148362939G>C, NW_003871055.3:g.5178352G>A, NW_003871055.3:g.5178352G>C, NC_000001.10:g.147835071G>A, NC_000001.10:g.147835071G>C, XR_007066537.1:n.551C>T, XR_007066537.1:n.551C>G

Select item 14889853102.

rs1488985310 has merged into rs1193679836 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C [Show Flanks]
Chromosome:: 1:148362395 (GRCh38)
1:147834527 (GRCh37)
Canonical SPDI:: NC_000001.11:148362391:CCCCC:CCC,NC_000001.11:148362391:CCCCC:CCCC
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.148362395_148362396del, NC_000001.11:g.148362396del, NW_003871055.3:g.5177808_5177809del, NW_003871055.3:g.5177809del, NC_000001.10:g.147834527_147834528del, NC_000001.10:g.147834528del, NR_104082.1:n.141_142del, NR_104082.1:n.142del

Select item 14887120863.

rs1488712086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:148363269 (GRCh38)
1:147835401 (GRCh37)
Canonical SPDI:: NC_000001.11:148363268:C:A
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.148363269C>A, NW_003871055.3:g.5178682C>A, NC_000001.10:g.147835401C>A, XR_007066537.1:n.221G>T, NM_207400.1:c.*1232G>T

Select item 14886598474.

rs1488659847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:148362627 (GRCh38)
1:147834759 (GRCh37)
Canonical SPDI:: NC_000001.11:148362626:C:A,NC_000001.11:148362626:C:T
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00671/43 (1000Genomes)
HGVS:: NC_000001.11:g.148362627C>A, NC_000001.11:g.148362627C>T, NW_003871055.3:g.5178040C>A, NW_003871055.3:g.5178040C>T, NC_000001.10:g.147834759C>A, NC_000001.10:g.147834759C>T

Select item 14886309775.

rs1488630977 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:148362996 (GRCh38)
1:147835128 (GRCh37)
Canonical SPDI:: NC_000001.11:148362995:T:C
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.148362996T>C, NW_003871055.3:g.5178409T>C, NC_000001.10:g.147835128T>C, XR_007066537.1:n.494A>G, NM_207400.1:c.*1505A>G

Select item 14885793846.

rs1488579384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:148362452 (GRCh38)
1:147834584 (GRCh37)
Canonical SPDI:: NC_000001.11:148362451:G:A
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.148362452G>A, NW_003871055.3:g.5177865G>A, NC_000001.10:g.147834584G>A, NR_104082.1:n.82C>T

Select item 14880066837.

rs1488006683 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:148362046 (GRCh38)
1:147834178 (GRCh37)
Canonical SPDI:: NC_000001.11:148362043:AGAG:AG
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000071/1 (ALFA)
-=0.000042/11 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.148362044AG[1], NW_003871055.3:g.5177457AG[1], NC_000001.10:g.147834176AG[1], XR_007066537.1:n.1069CT[1]

Select item 14879824128.

rs1487982412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:148362526 (GRCh38)
1:147834658 (GRCh37)
Canonical SPDI:: NC_000001.11:148362525:G:A,NC_000001.11:148362525:G:C
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00078/5 (1000Genomes)
HGVS:: NC_000001.11:g.148362526G>A, NC_000001.11:g.148362526G>C, NW_003871055.3:g.5177939G>A, NW_003871055.3:g.5177939G>C, NC_000001.10:g.147834658G>A, NC_000001.10:g.147834658G>C, NR_104082.1:n.8C>T, NR_104082.1:n.8C>G

Select item 14867448779.

rs1486744877 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:148363897 (GRCh38)
1:147836029 (GRCh37)
Canonical SPDI:: NC_000001.11:148363896:T:
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001281/18 (ALFA)
-=0.000468/3 (1000Genomes)
-=0.001288/341 (TOPMED)
-=0.001319/185 (GnomAD)
HGVS:: NC_000001.11:g.148363897del, NW_003871055.3:g.5179310del, NC_000001.10:g.147836029del

Select item 148476441010.

rs1484764410 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:148363275 (GRCh38)
1:147835407 (GRCh37)
Canonical SPDI:: NC_000001.11:148363274:T:C
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000214/3 (ALFA)
C=0.000078/11 (GnomAD)
C=0.00017/45 (TOPMED)
C=0.000625/4 (1000Genomes)
C=0.004367/8 (Korea1K)
C=0.004707/133 (TOMMO)
HGVS:: NC_000001.11:g.148363275T>C, NW_003871055.3:g.5178688T>C, NC_000001.10:g.147835407T>C, XR_007066537.1:n.215A>G, NM_207400.1:c.*1226A>G

Select item 148455155111.

rs1484551551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:148362598 (GRCh38)
1:147834730 (GRCh37)
Canonical SPDI:: NC_000001.11:148362597:C:A,NC_000001.11:148362597:C:G
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.148362598C>A, NC_000001.11:g.148362598C>G, NW_003871055.3:g.5178011C>A, NW_003871055.3:g.5178011C>G, NC_000001.10:g.147834730C>A, NC_000001.10:g.147834730C>G

Select item 148445108712.

rs1484451087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:148363612 (GRCh38)
1:147835744 (GRCh37)
Canonical SPDI:: NC_000001.11:148363611:T:C
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.148363612T>C, NW_003871055.3:g.5179025T>C, NC_000001.10:g.147835744T>C

Select item 148440347413.

rs1484403474 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:148362884 (GRCh38)
1:147835016 (GRCh37)
Canonical SPDI:: NC_000001.11:148362883:T:A
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000091/24 (TOPMED)
A=0.000121/17 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.148362884T>A, NW_003871055.3:g.5178297T>A, NC_000001.10:g.147835016T>A, XR_007066537.1:n.606A>T

Select item 148279883114.

rs1482798831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:148363910 (GRCh38)
1:147836042 (GRCh37)
Canonical SPDI:: NC_000001.11:148363909:G:C
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.148363910G>C, NW_003871055.3:g.5179323G>C, NC_000001.10:g.147836042G>C

Select item 148254324115.

rs1482543241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:148364181 (GRCh38)
1:147836313 (GRCh37)
Canonical SPDI:: NC_000001.11:148364180:C:A,NC_000001.11:148364180:C:T
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.148364181C>A, NC_000001.11:g.148364181C>T, NW_003871055.3:g.5179594C>A, NW_003871055.3:g.5179594C>T, NC_000001.10:g.147836313C>A, NC_000001.10:g.147836313C>T

Select item 147968952716.

rs1479689527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:148363822 (GRCh38)
1:147835954 (GRCh37)
Canonical SPDI:: NC_000001.11:148363821:G:A,NC_000001.11:148363821:G:C
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
A=0.000071/2 (TOMMO)
C=0.000107/15 (GnomAD)
C=0.0002/53 (TOPMED)
HGVS:: NC_000001.11:g.148363822G>A, NC_000001.11:g.148363822G>C, NW_003871055.3:g.5179235G>A, NW_003871055.3:g.5179235G>C, NC_000001.10:g.147835954G>A, NC_000001.10:g.147835954G>C

Select item 147846417317.

rs1478464173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:148362682 (GRCh38)
1:147834814 (GRCh37)
Canonical SPDI:: NC_000001.11:148362681:G:C
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.148362682G>C, NW_003871055.3:g.5178095G>C, NC_000001.10:g.147834814G>C, XR_007066537.1:n.808C>G

Select item 147818707618.

rs1478187076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:148363327 (GRCh38)
1:147835459 (GRCh37)
Canonical SPDI:: NC_000001.11:148363326:C:T
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000071/10 (GnomAD)
HGVS:: NC_000001.11:g.148363327C>T, NW_003871055.3:g.5178740C>T, NC_000001.10:g.147835459C>T, XR_007066537.1:n.163G>A, NM_207400.1:c.*1174G>A

Select item 147781443519.

rs1477814435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:148362108 (GRCh38)
1:147834240 (GRCh37)
Canonical SPDI:: NC_000001.11:148362107:C:A,NC_000001.11:148362107:C:T
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002447/45 (ALFA)
T=0.007897/1107 (GnomAD)
T=0.008176/2164 (TOPMED)
T=0.008432/54 (1000Genomes)
A=0.140767/404 (KOREAN)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000001.11:g.148362108C>A, NC_000001.11:g.148362108C>T, NW_003871055.3:g.5177521C>A, NW_003871055.3:g.5177521C>T, NC_000001.10:g.147834240C>A, NC_000001.10:g.147834240C>T, XR_007066537.1:n.1008G>T, XR_007066537.1:n.1008G>A

Select item 147713882520.

rs1477138825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:148362842 (GRCh38)
1:147834974 (GRCh37)
Canonical SPDI:: NC_000001.11:148362841:G:T
Gene:: RNVU1-1 (Varview), LOC124904396 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.148362842G>T, NW_003871055.3:g.5178255G>T, NC_000001.10:g.147834974G>T, XR_007066537.1:n.648C>A

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