SNP Links for Nucleotide (Select 207446693) - SNP

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Links from Nucleotide

Items: 1 to 20 of 118

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Select item 14899278541.

rs1489927854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28507426 (GRCh38)
1:28833938 (GRCh37)
Canonical SPDI:: NC_000001.11:28507425:G:A
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28507426G>A, NC_000001.10:g.28833938G>A, NR_002907.2:n.62G>A

Select item 14880789332.

rs1488078933 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28507480 (GRCh38)
1:28833992 (GRCh37)
Canonical SPDI:: NC_000001.11:28507479:A:G
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28507480A>G, NC_000001.10:g.28833992A>G, NR_002907.2:n.116A>G

Select item 14727020713.

rs1472702071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28507529 (GRCh38)
1:28834041 (GRCh37)
Canonical SPDI:: NC_000001.11:28507528:C:T
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_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.28507529C>T, NC_000001.10:g.28834041C>T, NR_002907.2:n.165C>T

Select item 14671142654.

rs1467114265 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:28507396 (GRCh38)
1:28833908 (GRCh37)
Canonical SPDI:: NC_000001.11:28507395:CCCC:CCC
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000001.11:g.28507399del, NC_000001.10:g.28833911del, NR_002907.2:n.35del

Select item 14653871615.

rs1465387161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:28507390 (GRCh38)
1:28833902 (GRCh37)
Canonical SPDI:: NC_000001.11:28507389:C:A
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28507390C>A, NC_000001.10:g.28833902C>A, NR_002907.2:n.26C>A

Select item 14530417456.

rs1453041745 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:28507430 (GRCh38)
1:28833942 (GRCh37)
Canonical SPDI:: NC_000001.11:28507429:A:G,NC_000001.11:28507429:A:T
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28507430A>G, NC_000001.11:g.28507430A>T, NC_000001.10:g.28833942A>G, NC_000001.10:g.28833942A>T, NR_002907.2:n.66A>G, NR_002907.2:n.66A>T

Select item 14323704037.

rs1432370403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28507422 (GRCh38)
1:28833934 (GRCh37)
Canonical SPDI:: NC_000001.11:28507421:G:A
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28507422G>A, NC_000001.10:g.28833934G>A, NR_002907.2:n.58G>A

Select item 14283306508.

rs1428330650 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATCTA,TATCTAGTATACTA [Show Flanks]
Chromosome:: 1:28507567 (GRCh38)
1:28834080 (GRCh37)
Canonical SPDI:: NC_000001.11:28507567:A:ATATCTA,NC_000001.11:28507567:A:ATATCTAGTATACTA
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATCTA=0.00066/10 (ALFA)
HGVS:: NC_000001.11:g.28507568AT[2]CTA[1], NC_000001.11:g.28507568AT[2]CTAGTATACTA[1], NC_000001.10:g.28834080AT[2]CTA[1], NC_000001.10:g.28834080AT[2]CTAGTATACTA[1], NR_002907.2:n.204AT[2]CTA[1], NR_002907.2:n.204AT[2]CTAGTATACTA[1]

Select item 14223937969.

rs1422393796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28507464 (GRCh38)
1:28833976 (GRCh37)
Canonical SPDI:: NC_000001.11:28507463:A:G
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.28507464A>G, NC_000001.10:g.28833976A>G, NR_002907.2:n.100A>G

Select item 142076894510.

rs1420768945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28507450 (GRCh38)
1:28833962 (GRCh37)
Canonical SPDI:: NC_000001.11:28507449:A:G
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.28507450A>G, NC_000001.10:g.28833962A>G, NR_002907.2:n.86A>G

Select item 140324916111.

rs1403249161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28507392 (GRCh38)
1:28833904 (GRCh37)
Canonical SPDI:: NC_000001.11:28507391:C:T
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28507392C>T, NC_000001.10:g.28833904C>T, NR_002907.2:n.28C>T

Select item 140149834612.

rs1401498346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:28507552 (GRCh38)
1:28834064 (GRCh37)
Canonical SPDI:: NC_000001.11:28507551:A:C
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.28507552A>C, NC_000001.10:g.28834064A>C, NR_002907.2:n.188A>C

Select item 139327986613.

rs1393279866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28507514 (GRCh38)
1:28834026 (GRCh37)
Canonical SPDI:: NC_000001.11:28507513:C:T
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.28507514C>T, NC_000001.10:g.28834026C>T, NR_002907.2:n.150C>T

Select item 138656425114.

rs1386564251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:28507449 (GRCh38)
1:28833961 (GRCh37)
Canonical SPDI:: NC_000001.11:28507448:T:A
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
HGVS:: NC_000001.11:g.28507449T>A, NC_000001.10:g.28833961T>A, NR_002907.2:n.85T>A

Select item 137776692315.

rs1377766923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:28507557 (GRCh38)
1:28834069 (GRCh37)
Canonical SPDI:: NC_000001.11:28507556:A:G,NC_000001.11:28507556:A:T
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28507557A>G, NC_000001.11:g.28507557A>T, NC_000001.10:g.28834069A>G, NC_000001.10:g.28834069A>T, NR_002907.2:n.193A>G, NR_002907.2:n.193A>T

Select item 137075277516.

rs1370752775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28507547 (GRCh38)
1:28834059 (GRCh37)
Canonical SPDI:: NC_000001.11:28507546:G:A
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28507547G>A, NC_000001.10:g.28834059G>A, NR_002907.2:n.183G>A

Select item 136764552617.

rs1367645526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:28507412 (GRCh38)
1:28833924 (GRCh37)
Canonical SPDI:: NC_000001.11:28507411:A:C
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.28507412A>C, NC_000001.10:g.28833924A>C, NR_002907.2:n.48A>C

Select item 136680659418.

rs1366806594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28507503 (GRCh38)
1:28834015 (GRCh37)
Canonical SPDI:: NC_000001.11:28507502:G:A
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28507503G>A, NC_000001.10:g.28834015G>A, NR_002907.2:n.139G>A

Select item 133025058119.

rs1330250581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28507522 (GRCh38)
1:28834034 (GRCh37)
Canonical SPDI:: NC_000001.11:28507521:C:T
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28507522C>T, NC_000001.10:g.28834034C>T, NR_002907.2:n.158C>T

Select item 132871643620.

rs1328716436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28507534 (GRCh38)
1:28834046 (GRCh37)
Canonical SPDI:: NC_000001.11:28507533:G:A
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.28507534G>A, NC_000001.10:g.28834046G>A, NR_002907.2:n.170G>A