SNP Links for Gene (Select 23221) - SNP

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Select item 14914909781.

rs1491490978 [Homo sapiens]

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

Select item 14914388072.

rs1491438807 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:22996569 (GRCh38)
8:22854082 (GRCh37)
Canonical SPDI:: NC_000008.11:22996567:TCT:T
Gene:: RHOBTB2 (Varview), LOC107984124 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00018/3 (TOMMO)
HGVS:: NC_000008.11:g.22996569_22996570del, NC_000008.10:g.22854082_22854083del, NG_047133.1:g.14312_14313del

Select item 14913059883.

rs1491305988 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:22986140 (GRCh38)
8:22843653 (GRCh37)
Canonical SPDI:: NC_000008.11:22986139:TT:
Gene:: RHOBTB2 (Varview), LOC107984124 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.22986140_22986141del, NC_000008.10:g.22843653_22843654del, NG_047133.1:g.3883_3884del

Select item 14909418644.

rs1490941864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:23010425 (GRCh38)
8:22867938 (GRCh37)
Canonical SPDI:: NC_000008.11:23010424:C:A
Gene:: RHOBTB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.23010425C>A, NC_000008.10:g.22867938C>A, NG_047133.1:g.28168C>A

Select item 14907676115.

rs1490767611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22988598 (GRCh38)
8:22846111 (GRCh37)
Canonical SPDI:: NC_000008.11:22988597:C:T
Gene:: RHOBTB2 (Varview), LOC107984124 (Varview)
Functional Consequence:: intron_variant,genic_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_000008.11:g.22988598C>T, NC_000008.10:g.22846111C>T, NG_047133.1:g.6341C>T

Select item 14907271026.

rs1490727102 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:23011259 (GRCh38)
8:22868772 (GRCh37)
Canonical SPDI:: NC_000008.11:23011258:C:A
Gene:: RHOBTB2 (Varview)
Functional Consequence:: intron_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_000008.11:g.23011259C>A, NC_000008.10:g.22868772C>A, NG_047133.1:g.29002C>A

Select item 14906555037.

rs1490655503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22999770 (GRCh38)
8:22857283 (GRCh37)
Canonical SPDI:: NC_000008.11:22999769:C:T
Gene:: RHOBTB2 (Varview), LOC107984124 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000076/20 (TOPMED)
T=0.000117/16 (GnomAD)
HGVS:: NC_000008.11:g.22999770C>T, NC_000008.10:g.22857283C>T, NG_047133.1:g.17513C>T, NM_015178.3:c.-346C>T, NM_015178.2:c.-346C>T, XR_007060857.1:n.36G>A

Select item 14906031368.

rs1490603136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22988162 (GRCh38)
8:22845675 (GRCh37)
Canonical SPDI:: NC_000008.11:22988161:T:C
Gene:: RHOBTB2 (Varview), LOC107984124 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000038/1 (TOMMO)
HGVS:: NC_000008.11:g.22988162T>C, NC_000008.10:g.22845675T>C, NG_047133.1:g.5905T>C

Select item 14905058409.

rs1490505840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23003574 (GRCh38)
8:22861087 (GRCh37)
Canonical SPDI:: NC_000008.11:23003573:G:A
Gene:: RHOBTB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.0002/28 (GnomAD)
A=0.000238/63 (TOPMED)
HGVS:: NC_000008.11:g.23003574G>A, NC_000008.10:g.22861087G>A, NG_047133.1:g.21317G>A

Select item 149049865310.

rs1490498653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:22988686 (GRCh38)
8:22846199 (GRCh37)
Canonical SPDI:: NC_000008.11:22988685:T:C,NC_000008.11:22988685:T:G
Gene:: RHOBTB2 (Varview), LOC107984124 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000049/13 (TOPMED)
HGVS:: NC_000008.11:g.22988686T>C, NC_000008.11:g.22988686T>G, NC_000008.10:g.22846199T>C, NC_000008.10:g.22846199T>G, NG_047133.1:g.6429T>C, NG_047133.1:g.6429T>G

Select item 149046696511.

rs1490466965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23018691 (GRCh38)
8:22876204 (GRCh37)
Canonical SPDI:: NC_000008.11:23018690:G:A
Gene:: RHOBTB2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.23018691G>A, NC_000008.10:g.22876204G>A, NG_012145.1:g.55497C>T, NG_047133.1:g.36434G>A, NM_015178.3:c.*1222G>A, NM_015178.2:c.*1222G>A, NM_001160036.2:c.*1222G>A, NM_001160036.1:c.*1222G>A, NM_001160037.2:c.*1222G>A, NM_001160037.1:c.*1222G>A, NM_001374791.1:c.*1222G>A, XM_047421610.1:c.*1222G>A, XM_047421607.1:c.*1222G>A, XM_047421608.1:c.*1222G>A, XM_047421611.1:c.*1222G>A, XM_047421609.1:c.*1222G>A

Select item 149037766512.

rs1490377665 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:23002485 (GRCh38)
8:22859998 (GRCh37)
Canonical SPDI:: NC_000008.11:23002484:A:G
Gene:: RHOBTB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.23002485A>G, NC_000008.10:g.22859998A>G, NG_047133.1:g.20228A>G

Select item 149032803013.

rs1490328030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:23006156 (GRCh38)
8:22863669 (GRCh37)
Canonical SPDI:: NC_000008.11:23006155:C:T
Gene:: RHOBTB2 (Varview)
Functional Consequence:: 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_000008.11:g.23006156C>T, NC_000008.10:g.22863669C>T, NG_047133.1:g.23899C>T

Select item 149023729514.

rs1490237295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 8:23011724 (GRCh38)
8:22869237 (GRCh37)
Canonical SPDI:: NC_000008.11:23011723:T:A,NC_000008.11:23011723:T:C
Gene:: RHOBTB2 (Varview)
Functional Consequence:: 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_000008.11:g.23011724T>A, NC_000008.11:g.23011724T>C, NC_000008.10:g.22869237T>A, NC_000008.10:g.22869237T>C, NG_047133.1:g.29467T>A, NG_047133.1:g.29467T>C

Select item 149022311715.

rs1490223117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23018921 (GRCh38)
8:22876434 (GRCh37)
Canonical SPDI:: NC_000008.11:23018920:G:A
Gene:: RHOBTB2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.23018921G>A, NC_000008.10:g.22876434G>A, NG_012145.1:g.55267C>T, NG_047133.1:g.36664G>A, NM_015178.3:c.*1452G>A, NM_015178.2:c.*1452G>A, NM_001160036.2:c.*1452G>A, NM_001160036.1:c.*1452G>A, NM_001160037.2:c.*1452G>A, NM_001160037.1:c.*1452G>A, NM_001374791.1:c.*1452G>A, XM_047421610.1:c.*1452G>A, XM_047421607.1:c.*1452G>A, XM_047421608.1:c.*1452G>A, XM_047421611.1:c.*1452G>A, XM_047421609.1:c.*1452G>A

Select item 149016289116.

rs1490162891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:23018602 (GRCh38)
8:22876115 (GRCh37)
Canonical SPDI:: NC_000008.11:23018601:G:C,NC_000008.11:23018601:G:T
Gene:: RHOBTB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.23018602G>C, NC_000008.11:g.23018602G>T, NC_000008.10:g.22876115G>C, NC_000008.10:g.22876115G>T, NG_012145.1:g.55586C>G, NG_012145.1:g.55586C>A, NG_047133.1:g.36345G>C, NG_047133.1:g.36345G>T, NM_015178.3:c.*1133G>C, NM_015178.3:c.*1133G>T, NM_015178.2:c.*1133G>C, NM_015178.2:c.*1133G>T, NM_001160036.2:c.*1133G>C, NM_001160036.2:c.*1133G>T, NM_001160036.1:c.*1133G>C, NM_001160036.1:c.*1133G>T, NM_001160037.2:c.*1133G>C, NM_001160037.2:c.*1133G>T, NM_001160037.1:c.*1133G>C, NM_001160037.1:c.*1133G>T, NM_001374791.1:c.*1133G>C, NM_001374791.1:c.*1133G>T, XM_047421610.1:c.*1133G>C, XM_047421610.1:c.*1133G>T, XM_047421607.1:c.*1133G>C, XM_047421607.1:c.*1133G>T, XM_047421608.1:c.*1133G>C, XM_047421608.1:c.*1133G>T, XM_047421611.1:c.*1133G>C, XM_047421611.1:c.*1133G>T, XM_047421609.1:c.*1133G>C, XM_047421609.1:c.*1133G>T

Select item 149000950417.

rs1490009504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:22987769 (GRCh38)
8:22845282 (GRCh37)
Canonical SPDI:: NC_000008.11:22987768:A:T
Gene:: RHOBTB2 (Varview), LOC107984124 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22987769A>T, NC_000008.10:g.22845282A>T, NG_047133.1:g.5512A>T

Select item 148992028718.

rs1489920287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22989630 (GRCh38)
8:22847143 (GRCh37)
Canonical SPDI:: NC_000008.11:22989629:T:C
Gene:: RHOBTB2 (Varview), LOC107984124 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000008.11:g.22989630T>C, NC_000008.10:g.22847143T>C, NG_047133.1:g.7373T>C

Select item 148988639619.

rs1489886396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23002978 (GRCh38)
8:22860491 (GRCh37)
Canonical SPDI:: NC_000008.11:23002977:G:A
Gene:: RHOBTB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.23002978G>A, NC_000008.10:g.22860491G>A, NG_047133.1:g.20721G>A

Select item 148979830520.

rs1489798305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:23010806 (GRCh38)
8:22868319 (GRCh37)
Canonical SPDI:: NC_000008.11:23010805:G:A
Gene:: RHOBTB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.23010806G>A, NC_000008.10:g.22868319G>A, NG_047133.1:g.28549G>A

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