SNP Links for Gene (Select 26830) - SNP

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Select item 14913609541.

rs1491360954 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,T [Show Flanks]
Chromosome:: 1:44731097 (GRCh38)
1:45196770 (GRCh37)
Canonical SPDI:: NC_000001.11:44731097::G,NC_000001.11:44731097::T
Gene:: RNU5D-1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.44731097_44731098insG, NC_000001.11:g.44731097_44731098insT, NC_000001.10:g.45196769_45196770insG, NC_000001.10:g.45196769_45196770insT, NR_002755.3:n.71_72insC, NR_002755.3:n.71_72insA

Select item 14912572852.

rs1491257285 has merged into rs985310110 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 1:44731313 (GRCh38)
1:45196985 (GRCh37)
Canonical SPDI:: NC_000001.11:44731312:GGGGG:GGGG,NC_000001.11:44731312:GGGGG:GGGGGG
Gene:: RNU5D-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.00005/1 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00023/1 (Estonian)
HGVS:: NC_000001.11:g.44731317del, NC_000001.11:g.44731317dup, NC_000001.10:g.45196989del, NC_000001.10:g.45196989dup

Select item 14911874063.

rs1491187406 has merged into rs1197688192 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 1:44731099 (GRCh38)
1:45196771 (GRCh37)
Canonical SPDI:: NC_000001.11:44731096:AAAA:AA,NC_000001.11:44731096:AAAA:AAAAA,NC_000001.11:44731096:AAAA:AAAAAA,NC_000001.11:44731096:AAAA:AAAAAAA
Gene:: RNU5D-1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.44731099_44731100del, NC_000001.11:g.44731100dup, NC_000001.11:g.44731099_44731100dup, NC_000001.11:g.44731098_44731100dup, NC_000001.10:g.45196771_45196772del, NC_000001.10:g.45196772dup, NC_000001.10:g.45196771_45196772dup, NC_000001.10:g.45196770_45196772dup, NR_002755.3:n.71_72del, NR_002755.3:n.72dup, NR_002755.3:n.71_72dup, NR_002755.3:n.70_72dup

Select item 14908413664.

rs1490841366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:44730680 (GRCh38)
1:45196352 (GRCh37)
Canonical SPDI:: NC_000001.11:44730679:A:T
Gene:: RNU5D-1 (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=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.44730680A>T, NC_000001.10:g.45196352A>T

Select item 14904670245.

rs1490467024 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:44733076 (GRCh38)
1:45198748 (GRCh37)
Canonical SPDI:: NC_000001.11:44733075:C:
Gene:: RNU5D-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.44733076del, NC_000001.10:g.45198748del

Select item 14889815446.

rs1488981544 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACAC [Show Flanks]
Chromosome:: 1:44730943 (GRCh38)
1:45196616 (GRCh37)
Canonical SPDI:: NC_000001.11:44730943:ACGCACAC:ACGCACACGCACAC
Gene:: RNU5D-1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACGCACACGCACAC=0./0 (ALFA)
ACGCAC=0.000004/1 (TOPMED)
ACGCAC=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44730946_44730951dup, NC_000001.10:g.45196618_45196623dup

Select item 14888810597.

rs1488881059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:44731349 (GRCh38)
1:45197021 (GRCh37)
Canonical SPDI:: NC_000001.11:44731348:C:A,NC_000001.11:44731348:C:T
Gene:: RNU5D-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.44731349C>A, NC_000001.11:g.44731349C>T, NC_000001.10:g.45197021C>A, NC_000001.10:g.45197021C>T

Select item 14887662698.

rs1488766269 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:44730636 (GRCh38)
1:45196308 (GRCh37)
Canonical SPDI:: NC_000001.11:44730632:ACACA:ACA
Gene:: RNU5D-1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.44730634CA[1], NC_000001.10:g.45196306CA[1]

Select item 14887273769.

rs1488727376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:44732271 (GRCh38)
1:45197943 (GRCh37)
Canonical SPDI:: NC_000001.11:44732270:A:C
Gene:: RNU5D-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.01146/21 (Korea1K)
C=0.01574/46 (KOREAN)
HGVS:: NC_000001.11:g.44732271A>C, NC_000001.10:g.45197943A>C

Select item 148841792010.

rs1488417920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:44730944 (GRCh38)
1:45196616 (GRCh37)
Canonical SPDI:: NC_000001.11:44730943:A:C,NC_000001.11:44730943:A:G,NC_000001.11:44730943:A:T
Gene:: RNU5D-1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.44730944A>C, NC_000001.11:g.44730944A>G, NC_000001.11:g.44730944A>T, NC_000001.10:g.45196616A>C, NC_000001.10:g.45196616A>G, NC_000001.10:g.45196616A>T

Select item 148841679011.

rs1488416790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44731626 (GRCh38)
1:45197298 (GRCh37)
Canonical SPDI:: NC_000001.11:44731625:C:T
Gene:: RNU5D-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44731626C>T, NC_000001.10:g.45197298C>T

Select item 148674989312.

rs1486749893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:44731450 (GRCh38)
1:45197122 (GRCh37)
Canonical SPDI:: NC_000001.11:44731449:G:C,NC_000001.11:44731449:G:T
Gene:: RNU5D-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.44731450G>C, NC_000001.11:g.44731450G>T, NC_000001.10:g.45197122G>C, NC_000001.10:g.45197122G>T

Select item 148666939413.

rs1486669394 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:44730790 (GRCh38)
1:45196463 (GRCh37)
Canonical SPDI:: NC_000001.11:44730790:T:TT
Gene:: RNU5D-1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000001.11:g.44730791dup, NC_000001.10:g.45196463dup

Select item 148569680014.

rs1485696800 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:44732962 (GRCh38)
1:45198634 (GRCh37)
Canonical SPDI:: NC_000001.11:44732961:A:T
Gene:: RNU5D-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.44732962A>T, NC_000001.10:g.45198634A>T

Select item 148445881715.

rs1484458817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44732303 (GRCh38)
1:45197975 (GRCh37)
Canonical SPDI:: NC_000001.11:44732302:G:A
Gene:: RNU5D-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.44732303G>A, NC_000001.10:g.45197975G>A

Select item 148442528616.

rs1484425286 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:44731222 (GRCh38)
1:45196894 (GRCh37)
Canonical SPDI:: NC_000001.11:44731221:C:
Gene:: RNU5D-1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.44731222del, NC_000001.10:g.45196894del

Select item 148400791717.

rs1484007917 has merged into rs879551971 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 1:44732321 (GRCh38)
1:45197993 (GRCh37)
Canonical SPDI:: NC_000001.11:44732312:TTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:44732312:TTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:44732312:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:44732312:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:44732312:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: RNU5D-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.00333/2 (NorthernSweden)
HGVS:: NC_000001.11:g.44732321_44732325del, NC_000001.11:g.44732322_44732325del, NC_000001.11:g.44732324_44732325del, NC_000001.11:g.44732325del, NC_000001.11:g.44732325dup, NC_000001.10:g.45197993_45197997del, NC_000001.10:g.45197994_45197997del, NC_000001.10:g.45197996_45197997del, NC_000001.10:g.45197997del, NC_000001.10:g.45197997dup

Select item 148368486318.

rs1483684863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44731871 (GRCh38)
1:45197543 (GRCh37)
Canonical SPDI:: NC_000001.11:44731870:C:T
Gene:: RNU5D-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44731871C>T, NC_000001.10:g.45197543C>T

Select item 148363257019.

rs1483632570 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:44731185 (GRCh38)
1:45196858 (GRCh37)
Canonical SPDI:: NC_000001.11:44731185::A
Gene:: RNU5D-1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.44731185_44731186insA, NC_000001.10:g.45196857_45196858insA

Select item 148346526620.

rs1483465266 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:44730764 (GRCh38)
1:45196437 (GRCh37)
Canonical SPDI:: NC_000001.11:44730764:A:AA
Gene:: RNU5D-1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.44730765dup, NC_000001.10:g.45196437dup

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