SNP Links for Gene (Select 6988) - SNP

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Select item 14906932411.

rs1490693241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49416447 (GRCh38)
3:49453880 (GRCh37)
Canonical SPDI:: NC_000003.12:49416446:A:G
Gene:: AMT (Varview), TCTA (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_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_000003.12:g.49416447A>G, NC_000003.11:g.49453880A>G, NG_051308.1:g.651T>C, NG_015986.1:g.11232T>C, NM_022171.3:c.*1585A>G, NM_022171.2:c.*1585A>G

Select item 14904572572.

rs1490457257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49415079 (GRCh38)
3:49452512 (GRCh37)
Canonical SPDI:: NC_000003.12:49415078:G:A
Gene:: TCTA (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_000003.12:g.49415079G>A, NC_000003.11:g.49452512G>A, NG_051308.1:g.2019C>T, NG_015986.1:g.12600C>T, NM_022171.3:c.*217G>A, NM_022171.2:c.*217G>A

Select item 14888871703.

rs1488887170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49410667 (GRCh38)
3:49448100 (GRCh37)
Canonical SPDI:: NC_000003.12:49410666:G:A
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49410667G>A, NC_000003.11:g.49448100G>A, NG_051308.1:g.6431C>T

Select item 14888244304.

rs1488824430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:49411411 (GRCh38)
3:49448844 (GRCh37)
Canonical SPDI:: NC_000003.12:49411410:T:G
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.49411411T>G, NC_000003.11:g.49448844T>G, NG_051308.1:g.5687A>C

Select item 14886523245.

rs1488652324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:49410287 (GRCh38)
3:49447720 (GRCh37)
Canonical SPDI:: NC_000003.12:49410286:T:A
Gene:: RHOA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.49410287T>A, NC_000003.11:g.49447720T>A, NG_051308.1:g.6811A>T

Select item 14881832186.

rs1488183218 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49411964 (GRCh38)
3:49449397 (GRCh37)
Canonical SPDI:: NC_000003.12:49411963:A:G
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49411964A>G, NC_000003.11:g.49449397A>G, NG_051308.1:g.5134T>C, NM_001664.4:c.-147T>C, NM_001664.3:c.-147T>C, NM_001664.2:c.-147T>C, NM_001313943.2:c.-147T>C, NM_001313943.1:c.-147T>C, NM_001313941.2:c.-242T>C, NM_001313941.1:c.-242T>C, NM_001313944.2:c.-147T>C, NM_001313944.1:c.-147T>C, NM_001313947.2:c.-147T>C, NM_001313947.1:c.-147T>C, NM_001313945.2:c.-267T>C, NM_001313945.1:c.-267T>C, NM_001313946.2:c.-147T>C, NM_001313946.1:c.-147T>C, NG_061460.1:g.69A>G

Select item 14875787837.

rs1487578783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49411835 (GRCh38)
3:49449268 (GRCh37)
Canonical SPDI:: NC_000003.12:49411834:C:T
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49411835C>T, NC_000003.11:g.49449268C>T, NG_051308.1:g.5263G>A, NM_001664.4:c.-18G>A, NM_001664.3:c.-18G>A, NM_001664.2:c.-18G>A, NM_001313943.2:c.-18G>A, NM_001313943.1:c.-18G>A, NM_001313941.2:c.-113G>A, NM_001313941.1:c.-113G>A, NM_001313944.2:c.-18G>A, NM_001313944.1:c.-18G>A, NM_001313947.2:c.-18G>A, NM_001313947.1:c.-18G>A, NM_001313946.2:c.-18G>A, NM_001313946.1:c.-18G>A

Select item 14875283978.

rs1487528397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:49413803 (GRCh38)
3:49451236 (GRCh37)
Canonical SPDI:: NC_000003.12:49413802:C:A,NC_000003.12:49413802:C:T
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49413803C>A, NC_000003.12:g.49413803C>T, NC_000003.11:g.49451236C>A, NC_000003.11:g.49451236C>T, NG_051308.1:g.3295G>T, NG_051308.1:g.3295G>A

Select item 14873959149.

rs1487395914 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:49412242 (GRCh38)
3:49449676 (GRCh37)
Canonical SPDI:: NC_000003.12:49412242:GGGG:GGGGG
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49412246dup, NC_000003.11:g.49449679dup, NG_051308.1:g.4855dup, NG_061460.1:g.351dup, NM_022171.2:c.-181dup

Select item 148732274010.

rs1487322740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49412012 (GRCh38)
3:49449445 (GRCh37)
Canonical SPDI:: NC_000003.12:49412011:T:C
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.49412012T>C, NC_000003.11:g.49449445T>C, NG_051308.1:g.5086A>G, NG_061460.1:g.117T>C, NM_001664.3:c.-195A>G, NM_001664.2:c.-195A>G, NM_001313943.1:c.-195A>G, NM_001313941.1:c.-290A>G, NM_001313944.1:c.-195A>G, NM_001313947.1:c.-195A>G, NM_001313945.1:c.-315A>G, NM_001313946.1:c.-195A>G

Select item 148673683811.

rs1486736838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:49412978 (GRCh38)
3:49450411 (GRCh37)
Canonical SPDI:: NC_000003.12:49412977:T:G
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.49412978T>G, NC_000003.11:g.49450411T>G, NG_051308.1:g.4120A>C

Select item 148672103512.

rs1486721035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49415819 (GRCh38)
3:49453252 (GRCh37)
Canonical SPDI:: NC_000003.12:49415818:T:C
Gene:: TCTA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.49415819T>C, NC_000003.11:g.49453252T>C, NG_051308.1:g.1279A>G, NG_015986.1:g.11860A>G, NM_022171.3:c.*957T>C, NM_022171.2:c.*957T>C

Select item 148581365713.

rs1485813657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49411404 (GRCh38)
3:49448837 (GRCh37)
Canonical SPDI:: NC_000003.12:49411403:A:G
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.49411404A>G, NC_000003.11:g.49448837A>G, NG_051308.1:g.5694T>C

Select item 148560195914.

rs1485601959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:49410566 (GRCh38)
3:49447999 (GRCh37)
Canonical SPDI:: NC_000003.12:49410565:C:A
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.00463/1 (Vietnamese)
HGVS:: NC_000003.12:g.49410566C>A, NC_000003.11:g.49447999C>A, NG_051308.1:g.6532G>T

Select item 148442992715.

rs1484429927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49412182 (GRCh38)
3:49449615 (GRCh37)
Canonical SPDI:: NC_000003.12:49412181:A:G
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.49412182A>G, NC_000003.11:g.49449615A>G, NG_051308.1:g.4916T>C, NG_061460.1:g.287A>G

Select item 148340697916.

rs1483406979 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:49413562 (GRCh38)
3:49450995 (GRCh37)
Canonical SPDI:: NC_000003.12:49413561:G:A,NC_000003.12:49413561:G:C
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49413562G>A, NC_000003.12:g.49413562G>C, NC_000003.11:g.49450995G>A, NC_000003.11:g.49450995G>C, NG_051308.1:g.3536C>T, NG_051308.1:g.3536C>G

Select item 148315643517.

rs1483156435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49413073 (GRCh38)
3:49450506 (GRCh37)
Canonical SPDI:: NC_000003.12:49413072:G:A
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49413073G>A, NC_000003.11:g.49450506G>A, NG_051308.1:g.4025C>T, NM_022171.3:c.232G>A, NM_022171.2:c.232G>A, NP_071503.1:p.Gly78Arg

Select item 148275712218.

rs1482757122 has merged into rs1235182305 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AAA,AAAAA [Show Flanks]
Chromosome:: 3:49414580 (GRCh38)
3:49452013 (GRCh37)
Canonical SPDI:: NC_000003.12:49414576:AAAAAAA:AAA,NC_000003.12:49414576:AAAAAAA:AAAAAA,NC_000003.12:49414576:AAAAAAA:AAAAAAAA
Gene:: TCTA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.49414580_49414583del, NC_000003.12:g.49414583del, NC_000003.12:g.49414583dup, NC_000003.11:g.49452013_49452016del, NC_000003.11:g.49452016del, NC_000003.11:g.49452016dup, NG_051308.1:g.2518_2521del, NG_051308.1:g.2521del, NG_051308.1:g.2521dup

Select item 148275502019.

rs1482755020 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGG [Show Flanks]
Chromosome:: 3:49411996 (GRCh38)
3:49449430 (GRCh37)
Canonical SPDI:: NC_000003.12:49411996:GGGCGGG:GGGCGGGCGGG
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGGCGGGCGGG=0./0 (ALFA)
HGVS:: NC_000003.12:g.49412000_49412003dup, NC_000003.11:g.49449433_49449436dup, NG_051308.1:g.5098_5101dup, NG_061460.1:g.105_108dup, NM_001664.3:c.-183_-180dup, NM_001664.2:c.-183_-180dup, NM_001313943.1:c.-183_-180dup, NM_001313941.1:c.-278_-275dup, NM_001313944.1:c.-183_-180dup, NM_001313947.1:c.-183_-180dup, NM_001313945.1:c.-303_-300dup, NM_001313946.1:c.-183_-180dup

Select item 148231779120.

rs1482317791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49411322 (GRCh38)
3:49448755 (GRCh37)
Canonical SPDI:: NC_000003.12:49411321:C:T
Gene:: RHOA (Varview), TCTA (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000003.12:g.49411322C>T, NC_000003.11:g.49448755C>T, NG_051308.1:g.5776G>A