SNP Links for Nucleotide (Select 60593083) - SNP

Links from Nucleotide

Items: 1 to 20 of 233

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Select item 14875576681.

rs1487557668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:32151005 (GRCh38)
17:30478024 (GRCh37)
Canonical SPDI:: NC_000017.11:32151004:T:C
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_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_000017.11:g.32151005T>C, NC_000017.10:g.30478024T>C, NR_002222.1:n.567A>G

Select item 14873302502.

rs1487330250 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:32150921 (GRCh38)
17:30477940 (GRCh37)
Canonical SPDI:: NC_000017.11:32150920:C:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.32150921C>T, NC_000017.10:g.30477940C>T, NR_002222.1:n.651G>A

Select item 14850045293.

rs1485004529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:32150538 (GRCh38)
17:30477557 (GRCh37)
Canonical SPDI:: NC_000017.11:32150537:G:A
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.32150538G>A, NC_000017.10:g.30477557G>A, NR_002222.1:n.1034C>T

Select item 14849130764.

rs1484913076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:32150695 (GRCh38)
17:30477714 (GRCh37)
Canonical SPDI:: NC_000017.11:32150694:A:G,NC_000017.11:32150694:A:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.32150695A>G, NC_000017.11:g.32150695A>T, NC_000017.10:g.30477714A>G, NC_000017.10:g.30477714A>T, NR_002222.1:n.877T>C, NR_002222.1:n.877T>A

Select item 14833690005.

rs1483369000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:32151041 (GRCh38)
17:30478060 (GRCh37)
Canonical SPDI:: NC_000017.11:32151040:G:A
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.32151041G>A, NC_000017.10:g.30478060G>A, NR_002222.1:n.531C>T

Select item 14790934446.

rs1479093444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:32150777 (GRCh38)
17:30477796 (GRCh37)
Canonical SPDI:: NC_000017.11:32150776:T:G
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.32150777T>G, NC_000017.10:g.30477796T>G, NR_002222.1:n.795A>C

Select item 14784171687.

rs1478417168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:32150484 (GRCh38)
17:30477503 (GRCh37)
Canonical SPDI:: NC_000017.11:32150483:G:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.32150484G>T, NC_000017.10:g.30477503G>T, NR_002222.1:n.1088C>A

Select item 14724216068.

rs1472421606 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:32150667 (GRCh38)
17:30477686 (GRCh37)
Canonical SPDI:: NC_000017.11:32150666:GG:G
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.32150668del, NC_000017.10:g.30477687del, NR_002222.1:n.905del

Select item 14710116149.

rs1471011614 [Homo sapiens]

Variant type:: SNV:
Alleles:: CA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 146553115110.

rs1465531151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:32150375 (GRCh38)
17:30477394 (GRCh37)
Canonical SPDI:: NC_000017.11:32150374:G:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0438/196 (ALFA)
HGVS:: NC_000017.11:g.32150375G>T, NC_000017.10:g.30477394G>T, NR_002222.1:n.1197C>A

Select item 146448285011.

rs1464482850 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGCTTCTAGTTCTTTATA [Show Flanks]
Chromosome:: 17:32151219 (GRCh38)
17:30478239 (GRCh37)
Canonical SPDI:: NC_000017.11:32151219:AGAGCTTCTAGTTCTTTATA:AGAGCTTCTAGTTCTTTATAGAGCTTCTAGTTCTTTATA
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGCTTCTAGTTCTTTATAGAGCTTCTAGTTCTTTATA=0./0 (ALFA)
AGAGCTTCTAGTTCTTTAT=0.000007/1 (GnomAD)
AGAGCTTCTAGTTCTTTAT=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.32151221_32151239dup, NC_000017.10:g.30478240_30478258dup, NR_002222.1:n.334_352dup

Select item 146406922212.

rs1464069222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:32150862 (GRCh38)
17:30477881 (GRCh37)
Canonical SPDI:: NC_000017.11:32150861:A:G
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.32150862A>G, NC_000017.10:g.30477881A>G, NR_002222.1:n.710T>C

Select item 146361958213.

rs1463619582 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:32151248 (GRCh38)
17:30478267 (GRCh37)
Canonical SPDI:: NC_000017.11:32151247:GGG:GG
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.32151250del, NC_000017.10:g.30478269del, NR_002222.1:n.324del

Select item 145724869714.

rs1457248697 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCCAG>- [Show Flanks]
Chromosome:: 17:32151293 (GRCh38)
17:30478312 (GRCh37)
Canonical SPDI:: NC_000017.11:32151290:AGTCCCAG:AG
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.32151293_32151298del, NC_000017.10:g.30478312_30478317del, NR_002222.1:n.276_281del

Select item 145620811815.

rs1456208118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:32151311 (GRCh38)
17:30478330 (GRCh37)
Canonical SPDI:: NC_000017.11:32151310:C:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.32151311C>T, NC_000017.10:g.30478330C>T, NR_002222.1:n.261G>A

Select item 145366017116.

rs1453660171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:32150987 (GRCh38)
17:30478006 (GRCh37)
Canonical SPDI:: NC_000017.11:32150986:A:G
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.32150987A>G, NC_000017.10:g.30478006A>G, NR_002222.1:n.585T>C

Select item 144921755717.

rs1449217557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:32151414 (GRCh38)
17:30478433 (GRCh37)
Canonical SPDI:: NC_000017.11:32151413:T:C
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.32151414T>C, NC_000017.10:g.30478433T>C, NR_002222.1:n.158A>G

Select item 144875353918.

rs1448753539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:32150742 (GRCh38)
17:30477761 (GRCh37)
Canonical SPDI:: NC_000017.11:32150741:C:G,NC_000017.11:32150741:C:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000043/6 (GnomAD)
HGVS:: NC_000017.11:g.32150742C>G, NC_000017.11:g.32150742C>T, NC_000017.10:g.30477761C>G, NC_000017.10:g.30477761C>T, NR_002222.1:n.830G>C, NR_002222.1:n.830G>A

Select item 144828583719.

rs1448285837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:32150912 (GRCh38)
17:30477931 (GRCh37)
Canonical SPDI:: NC_000017.11:32150911:C:T
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.32150912C>T, NC_000017.10:g.30477931C>T, NR_002222.1:n.660G>A

Select item 144765921920.

rs1447659219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:32151329 (GRCh38)
17:30478348 (GRCh37)
Canonical SPDI:: NC_000017.11:32151328:T:C
Gene:: RHOT1 (Varview), ARGFXP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.32151329T>C, NC_000017.10:g.30478348T>C, NR_002222.1:n.243A>G

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