SNP Links for Nucleotide (Select 219689129) - SNP

Links from Nucleotide

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Select item 14513638041.

rs1451363804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:173865996 (GRCh38)
1:173835134 (GRCh37)
Canonical SPDI:: NC_000001.11:173865995:T:A
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.173865996T>A, NC_000001.10:g.173835134T>A, NR_002750.2:n.33A>T

Select item 14246246852.

rs1424624685 has merged into rs775264686 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCATC>-,ATC [Show Flanks]
Chromosome:: 1:173866019 (GRCh38)
1:173835157 (GRCh37)
Canonical SPDI:: NC_000001.11:173866015:ATCATCATC:ATC,NC_000001.11:173866015:ATCATCATC:ATCATC
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATC=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000035/4 (ExAC)
-=0.00006/1 (TOMMO)
-=0.000065/15 (GnomAD_exomes)
-=0.000259/1 (ALSPAC)
-=0.00027/1 (TWINSUK)
HGVS:: NC_000001.11:g.173866016ATC[1], NC_000001.11:g.173866016ATC[2], NC_000001.10:g.173835154ATC[1], NC_000001.10:g.173835154ATC[2], NR_002750.2:n.5GAT[1], NR_002750.2:n.5GAT[2]

Select item 12814396123.

rs1281439612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173865975 (GRCh38)
1:173835113 (GRCh37)
Canonical SPDI:: NC_000001.11:173865974:T:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173865975T>C, NC_000001.10:g.173835113T>C, NR_002750.2:n.54A>G

Select item 12510761994.

rs1251076199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173865991 (GRCh38)
1:173835129 (GRCh37)
Canonical SPDI:: NC_000001.11:173865990:C:T
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173865991C>T, NC_000001.10:g.173835129C>T, NR_002750.2:n.38G>A

Select item 12452745695.

rs1245274569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173866018 (GRCh38)
1:173835156 (GRCh37)
Canonical SPDI:: NC_000001.11:173866017:C:T
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_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.173866018C>T, NC_000001.10:g.173835156C>T, NR_002750.2:n.11G>A

Select item 12340445716.

rs1234044571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173865972 (GRCh38)
1:173835110 (GRCh37)
Canonical SPDI:: NC_000001.11:173865971:A:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173865972A>G, NC_000001.10:g.173835110A>G, NR_002750.2:n.57T>C

Select item 12056626597.

rs1205662659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:173865980 (GRCh38)
1:173835118 (GRCh37)
Canonical SPDI:: NC_000001.11:173865979:C:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173865980C>G, NC_000001.10:g.173835118C>G, NR_002750.2:n.49G>C

Select item 11936918648.

rs1193691864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:173865977 (GRCh38)
1:173835115 (GRCh37)
Canonical SPDI:: NC_000001.11:173865976:G:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173865977G>C, NC_000001.10:g.173835115G>C, NR_002750.2:n.52C>G

Select item 11819666949.

rs1181966694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173866024 (GRCh38)
1:173835162 (GRCh37)
Canonical SPDI:: NC_000001.11:173866023:C:T
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.173866024C>T, NC_000001.10:g.173835162C>T, NR_002750.2:n.5G>A

Select item 99373414510.

rs993734145 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173865988 (GRCh38)
1:173835126 (GRCh37)
Canonical SPDI:: NC_000001.11:173865987:G:A
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,intron_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.173865988G>A, NC_000001.10:g.173835126G>A, NR_002750.2:n.41C>T

Select item 93998567811.

rs939985678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:173865979 (GRCh38)
1:173835117 (GRCh37)
Canonical SPDI:: NC_000001.11:173865978:G:A,NC_000001.11:173865978:G:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173865979G>A, NC_000001.11:g.173865979G>C, NC_000001.10:g.173835117G>A, NC_000001.10:g.173835117G>C, NR_002750.2:n.50C>T, NR_002750.2:n.50C>G

Select item 77954326912.

rs779543269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173866027 (GRCh38)
1:173835165 (GRCh37)
Canonical SPDI:: NC_000001.11:173866026:G:A
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000009/1 (ExAC)
HGVS:: NC_000001.11:g.173866027G>A, NC_000001.10:g.173835165G>A, NR_002750.2:n.2C>T

Select item 77709187713.

rs777091877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173865997 (GRCh38)
1:173835135 (GRCh37)
Canonical SPDI:: NC_000001.11:173865996:G:A
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000009/1 (ExAC)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.173865997G>A, NC_000001.10:g.173835135G>A, NR_002750.2:n.32C>T

Select item 77526468614.

rs775264686 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCATC>-,ATC [Show Flanks]
Chromosome:: 1:173866019 (GRCh38)
1:173835157 (GRCh37)
Canonical SPDI:: NC_000001.11:173866015:ATCATCATC:ATC,NC_000001.11:173866015:ATCATCATC:ATCATC
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATC=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000035/4 (ExAC)
-=0.00006/1 (TOMMO)
-=0.000065/15 (GnomAD_exomes)
-=0.000259/1 (ALSPAC)
-=0.00027/1 (TWINSUK)
HGVS:: NC_000001.11:g.173866016ATC[1], NC_000001.11:g.173866016ATC[2], NC_000001.10:g.173835154ATC[1], NC_000001.10:g.173835154ATC[2], NR_002750.2:n.5GAT[1], NR_002750.2:n.5GAT[2]

Select item 77331467915.

rs773314679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:173865983 (GRCh38)
1:173835121 (GRCh37)
Canonical SPDI:: NC_000001.11:173865982:A:C
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000069/16 (GnomAD_exomes)
C=0.000133/15 (ExAC)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.173865983A>C, NC_000001.10:g.173835121A>C, NR_002750.2:n.46T>G

Select item 77210333016.

rs772103330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:173865976 (GRCh38)
1:173835114 (GRCh37)
Canonical SPDI:: NC_000001.11:173865975:A:G,NC_000001.11:173865975:A:T
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000009/1 (ExAC)
HGVS:: NC_000001.11:g.173865976A>G, NC_000001.11:g.173865976A>T, NC_000001.10:g.173835114A>G, NC_000001.10:g.173835114A>T, NR_002750.2:n.53T>C, NR_002750.2:n.53T>A

Select item 76650160317.

rs766501603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:173865992 (GRCh38)
1:173835130 (GRCh37)
Canonical SPDI:: NC_000001.11:173865991:T:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000022/5 (GnomAD_exomes)
G=0.000027/3 (ExAC)
HGVS:: NC_000001.11:g.173865992T>G, NC_000001.10:g.173835130T>G, NR_002750.2:n.37A>C

Select item 76586594218.

rs765865942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173866007 (GRCh38)
1:173835145 (GRCh37)
Canonical SPDI:: NC_000001.11:173866006:C:T
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000017/4 (GnomAD_exomes)
T=0.000018/2 (ExAC)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.173866007C>T, NC_000001.10:g.173835145C>T, NR_002750.2:n.22G>A

Select item 76101191219.

rs761011912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:173865985 (GRCh38)
1:173835123 (GRCh37)
Canonical SPDI:: NC_000001.11:173865984:T:A,NC_000001.11:173865984:T:C,NC_000001.11:173865984:T:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000027/3 (ExAC)
A=0.000035/1 (TOMMO)
A=0.001027/3 (KOREAN)
HGVS:: NC_000001.11:g.173865985T>A, NC_000001.11:g.173865985T>C, NC_000001.11:g.173865985T>G, NC_000001.10:g.173835123T>A, NC_000001.10:g.173835123T>C, NC_000001.10:g.173835123T>G, NR_002750.2:n.44A>T, NR_002750.2:n.44A>G, NR_002750.2:n.44A>C

Select item 75979425820.

rs759794258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:173866000 (GRCh38)
1:173835138 (GRCh37)
Canonical SPDI:: NC_000001.11:173865999:C:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/1 (ExAC)
G=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173866000C>G, NC_000001.10:g.173835138C>G, NR_002750.2:n.29G>C

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