SNP Links for Gene (Select 8420) - SNP

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Select item 14915087441.

rs1491508744 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 1:28510591 (GRCh38)
1:28837104 (GRCh37)
Canonical SPDI:: NC_000001.11:28510591::CC
Gene:: RCC1 (Varview), SNHG3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: CC=0.000156/1 (1000Genomes)
CC=0.000235/33 (GnomAD)
CC=0.001062/18 (TOMMO)
CC=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.28510591_28510592insCC, NC_000001.10:g.28837103_28837104insCC, NR_002909.2:n.1937_1938insCC, NR_036473.1:n.2045_2046insCC

Select item 14913428432.

rs1491342843 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:28510591 (GRCh38)
1:28837103 (GRCh37)
Canonical SPDI:: NC_000001.11:28510590:AA:
Gene:: RCC1 (Varview), SNHG3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28510591_28510592del, NC_000001.10:g.28837103_28837104del, NR_002909.2:n.1937_1938del, NR_036473.1:n.2045_2046del

Select item 14913190523.

rs1491319052 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:28508914 (GRCh38)
1:28835426 (GRCh37)
Canonical SPDI:: NC_000001.11:28508913:AT:
Gene:: RCC1 (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/3 (ExAC)
-=0.000038/8 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28508914_28508915del, NC_000001.10:g.28835426_28835427del, NR_002909.2:n.260_261del, NR_036473.1:n.368_369del

Select item 14911196634.

rs1491119663 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:28506200 (GRCh38)
1:28832712 (GRCh37)
Canonical SPDI:: NC_000001.11:28506199:AC:
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.28506200_28506201del, NC_000001.10:g.28832712_28832713del

Select item 14908377365.

rs1490837736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28510001 (GRCh38)
1:28836513 (GRCh37)
Canonical SPDI:: NC_000001.11:28510000:A:G
Gene:: RCC1 (Varview), SNHG3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_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_000001.11:g.28510001A>G, NC_000001.10:g.28836513A>G, NR_002909.2:n.1347A>G, NR_036473.1:n.1455A>G

Select item 14907684036.

rs1490768403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28506191 (GRCh38)
1:28832703 (GRCh37)
Canonical SPDI:: NC_000001.11:28506190:T:C
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.28506191T>C, NC_000001.10:g.28832703T>C

Select item 14906039877.

rs1490603987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28506476 (GRCh38)
1:28832988 (GRCh37)
Canonical SPDI:: NC_000001.11:28506475:C:T
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.28506476C>T, NC_000001.10:g.28832988C>T

Select item 14903880648.

rs1490388064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:28510854 (GRCh38)
1:28837366 (GRCh37)
Canonical SPDI:: NC_000001.11:28510853:T:A
Gene:: RCC1 (Varview), SNHG3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.28510854T>A, NC_000001.10:g.28837366T>A, NR_002909.2:n.2200T>A, NR_036473.1:n.2308T>A

Select item 14900522569.

rs1490052256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:28506069 (GRCh38)
1:28832581 (GRCh37)
Canonical SPDI:: NC_000001.11:28506068:T:G
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_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.28506069T>G, NC_000001.10:g.28832581T>G, NM_001048199.3:c.-134T>G, NM_001048199.2:c.-134T>G, NR_030725.2:n.27T>G, NR_030726.2:n.27T>G, NM_001381865.2:c.-277T>G, NM_001381865.1:c.-277T>G, NM_001381866.2:c.-273T>G, NM_001381866.1:c.-273T>G, NR_002909.2:n.127T>G, NR_030725.1:n.127T>G, NR_030726.1:n.127T>G, NM_001048197.1:c.-277T>G, NM_001048198.1:c.-273T>G, NR_036473.1:n.127T>G

Select item 149004976910.

rs1490049769 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:28505986 (GRCh38)
1:28832498 (GRCh37)
Canonical SPDI:: NC_000001.11:28505985:T:A,NC_000001.11:28505985:T:C
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000023/3 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.28505986T>A, NC_000001.11:g.28505986T>C, NC_000001.10:g.28832498T>A, NC_000001.10:g.28832498T>C, NM_001048199.2:c.-217T>A, NM_001048199.2:c.-217T>C, NR_002909.2:n.44T>A, NR_002909.2:n.44T>C, NR_030725.1:n.44T>A, NR_030725.1:n.44T>C, NR_030726.1:n.44T>A, NR_030726.1:n.44T>C, NM_001048197.1:c.-360T>A, NM_001048197.1:c.-360T>C, NM_001048198.1:c.-356T>A, NM_001048198.1:c.-356T>C, NR_036473.1:n.44T>A, NR_036473.1:n.44T>C

Select item 148992785411.

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 148949664312.

rs1489496643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28507101 (GRCh38)
1:28833613 (GRCh37)
Canonical SPDI:: NC_000001.11:28507100:A:G
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_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_000001.11:g.28507101A>G, NC_000001.10:g.28833613A>G, NG_075477.1:g.345A>G

Select item 148940648213.

rs1489406482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28508431 (GRCh38)
1:28834943 (GRCh37)
Canonical SPDI:: NC_000001.11:28508430:T:C
Gene:: RCC1 (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28508431T>C, NC_000001.10:g.28834943T>C

Select item 148932739014.

rs1489327390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28506253 (GRCh38)
1:28832765 (GRCh37)
Canonical SPDI:: NC_000001.11:28506252:G:A
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28506253G>A, NC_000001.10:g.28832765G>A, NR_036473.1:n.176G>A

Select item 148928079115.

rs1489280791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28507726 (GRCh38)
1:28834238 (GRCh37)
Canonical SPDI:: NC_000001.11:28507725:C:T
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28507726C>T, NC_000001.10:g.28834238C>T

Select item 148881264516.

rs1488812645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28505083 (GRCh38)
1:28831595 (GRCh37)
Canonical SPDI:: NC_000001.11:28505082:G:A
Gene:: RCC1 (Varview), SNHG3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.28505083G>A, NC_000001.10:g.28831595G>A

Select item 148857859117.

rs1488578591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28510193 (GRCh38)
1:28836705 (GRCh37)
Canonical SPDI:: NC_000001.11:28510192:A:G
Gene:: RCC1 (Varview), SNHG3 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
G=0.000004/1 (TOPMED)
G=0.000071/1 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.28510193A>G, NC_000001.10:g.28836705A>G, NR_002909.2:n.1539A>G, NR_036473.1:n.1647A>G

Select item 148850748818.

rs1488507488 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG [Show Flanks]
Chromosome:: 1:28507135 (GRCh38)
1:28833648 (GRCh37)
Canonical SPDI:: NC_000001.11:28507135::GG
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.28507135_28507136insGG, NC_000001.10:g.28833647_28833648insGG, NG_075477.1:g.379_380insGG

Select item 148810006319.

rs1488100063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28507976 (GRCh38)
1:28834488 (GRCh37)
Canonical SPDI:: NC_000001.11:28507975:G:A
Gene:: RCC1 (Varview), SNORA73A (Varview), SNHG3 (Varview), SNORA73B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_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.28507976G>A, NC_000001.10:g.28834488G>A

Select item 148807893320.

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