SNP Links for Gene (Select 140738) - SNP

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Select item 14905691691.

rs1490569169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119437655 (GRCh38)
2:120195231 (GRCh37)
Canonical SPDI:: NC_000002.12:119437654:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.119437655C>T, NC_000002.11:g.120195231C>T, XM_006712300.4:c.*215C>T, XM_006712300.3:c.*215C>T, XM_006712300.2:c.*215C>T, XM_006712300.1:c.*215C>T, XM_011510659.3:c.*215C>T, XM_011510659.2:c.*215C>T, XM_011510659.1:c.*215C>T, NM_183240.3:c.*215C>T, NM_183240.2:c.*215C>T, XM_047443445.1:c.*215C>T, XM_047443446.1:c.*215C>T

Select item 14904230162.

rs1490423016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:119429195 (GRCh38)
2:120186771 (GRCh37)
Canonical SPDI:: NC_000002.12:119429194:A:G
Gene:: TMEM37 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.119429195A>G, NC_000002.11:g.120186771A>G

Select item 14901125153.

rs1490112515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119438629 (GRCh38)
2:120196205 (GRCh37)
Canonical SPDI:: NC_000002.12:119438628:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000162/3 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000002.12:g.119438629C>T, NC_000002.11:g.120196205C>T, NG_029904.1:g.90824G>A

Select item 14900716314.

rs1490071631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:119428300 (GRCh38)
2:120185876 (GRCh37)
Canonical SPDI:: NC_000002.12:119428299:T:C
Gene:: TMEM37 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.119428300T>C, NC_000002.11:g.120185876T>C

Select item 14894420235.

rs1489442023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:119437649 (GRCh38)
2:120195225 (GRCh37)
Canonical SPDI:: NC_000002.12:119437648:G:A
Gene:: TMEM37 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.119437649G>A, NC_000002.11:g.120195225G>A, XM_006712300.4:c.*209G>A, XM_006712300.3:c.*209G>A, XM_006712300.2:c.*209G>A, XM_006712300.1:c.*209G>A, XM_011510659.3:c.*209G>A, XM_011510659.2:c.*209G>A, XM_011510659.1:c.*209G>A, NM_183240.3:c.*209G>A, NM_183240.2:c.*209G>A, XM_047443445.1:c.*209G>A, XM_047443446.1:c.*209G>A

Select item 14893866556.

rs1489386655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119430804 (GRCh38)
2:120188380 (GRCh37)
Canonical SPDI:: NC_000002.12:119430803:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_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_000002.12:g.119430804C>T, NC_000002.11:g.120188380C>T

Select item 14889244347.

rs1488924434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:119430853 (GRCh38)
2:120188429 (GRCh37)
Canonical SPDI:: NC_000002.12:119430852:C:G,NC_000002.12:119430852:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.119430853C>G, NC_000002.12:g.119430853C>T, NC_000002.11:g.120188429C>G, NC_000002.11:g.120188429C>T

Select item 14886077218.

rs1488607721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:119438120 (GRCh38)
2:120195696 (GRCh37)
Canonical SPDI:: NC_000002.12:119438119:C:G
Gene:: TMEM37 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.119438120C>G, NC_000002.11:g.120195696C>G, NG_029904.1:g.91333G>C, XM_006712300.4:c.*680C>G, XM_006712300.3:c.*680C>G, XM_006712300.2:c.*680C>G, XM_006712300.1:c.*680C>G, XM_011510659.3:c.*680C>G, XM_011510659.2:c.*680C>G, XM_011510659.1:c.*680C>G, NM_183240.3:c.*680C>G, NM_183240.2:c.*680C>G, XM_047443445.1:c.*680C>G, XM_047443446.1:c.*680C>G

Select item 14865341359.

rs1486534135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:119432128 (GRCh38)
2:120189704 (GRCh37)
Canonical SPDI:: NC_000002.12:119432127:C:G,NC_000002.12:119432127:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.119432128C>G, NC_000002.12:g.119432128C>T, NC_000002.11:g.120189704C>G, NC_000002.11:g.120189704C>T, XM_006712300.4:c.-363C>G, XM_006712300.4:c.-363C>T, XM_006712300.3:c.-363C>G, XM_006712300.3:c.-363C>T

Select item 148650409510.

rs1486504095 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>G
Chromosome:: no mapping
Canonical SPDI:

Select item 148637532411.

rs1486375324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119432711 (GRCh38)
2:120190287 (GRCh37)
Canonical SPDI:: NC_000002.12:119432710:C:T
Gene:: TMEM37 (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_000002.12:g.119432711C>T, NC_000002.11:g.120190287C>T

Select item 148624982212.

rs1486249822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119436135 (GRCh38)
2:120193711 (GRCh37)
Canonical SPDI:: NC_000002.12:119436134:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.119436135C>T, NC_000002.11:g.120193711C>T

Select item 148596127513.

rs1485961275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:119433115 (GRCh38)
2:120190691 (GRCh37)
Canonical SPDI:: NC_000002.12:119433114:G:C
Gene:: TMEM37 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (Korea1K)
C=0.000008/2 (TOPMED)
C=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.119433115G>C, NC_000002.11:g.120190691G>C

Select item 148593746014.

rs1485937460 has merged into rs111285790 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 2:119431160 (GRCh38)
2:120188736 (GRCh37)
Canonical SPDI:: NC_000002.12:119431150:AAAAAAAAAAA:AAAAAAAAA,NC_000002.12:119431150:AAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:119431150:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:119431150:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: TMEM37 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.00333/2 (NorthernSweden)
HGVS:: NC_000002.12:g.119431160_119431161del, NC_000002.12:g.119431161del, NC_000002.12:g.119431161dup, NC_000002.12:g.119431160_119431161dup, NC_000002.11:g.120188736_120188737del, NC_000002.11:g.120188737del, NC_000002.11:g.120188737dup, NC_000002.11:g.120188736_120188737dup

Select item 148569439815.

rs1485694398 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:119430588 (GRCh38)
2:120188164 (GRCh37)
Canonical SPDI:: NC_000002.12:119430587:CCCC:CCC
Gene:: TMEM37 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.119430591del, NC_000002.11:g.120188167del

Select item 148561234616.

rs1485612346 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:119434955 (GRCh38)
2:120192531 (GRCh37)
Canonical SPDI:: NC_000002.12:119434954:T:A
Gene:: TMEM37 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_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_000002.12:g.119434955T>A, NC_000002.11:g.120192531T>A

Select item 148556558717.

rs1485565587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119431385 (GRCh38)
2:120188961 (GRCh37)
Canonical SPDI:: NC_000002.12:119431384:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.119431385C>T, NC_000002.11:g.120188961C>T, XM_047443445.1:c.-441C>T

Select item 148542620218.

rs1485426202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:119432172 (GRCh38)
2:120189748 (GRCh37)
Canonical SPDI:: NC_000002.12:119432171:C:A
Gene:: TMEM37 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.119432172C>A, NC_000002.11:g.120189748C>A, XM_006712300.4:c.-319C>A, XM_006712300.3:c.-319C>A, XM_006712300.2:c.-319C>A

Select item 148535206619.

rs1485352066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119437053 (GRCh38)
2:120194629 (GRCh37)
Canonical SPDI:: NC_000002.12:119437052:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.119437053C>T, NC_000002.11:g.120194629C>T, XM_006712300.4:c.-76C>T, XM_006712300.3:c.-76C>T, XM_006712300.2:c.-76C>T, XM_006712300.1:c.-76C>T, XM_011510659.3:c.222C>T, XM_011510659.2:c.222C>T, XM_011510659.1:c.222C>T, NM_183240.3:c.186C>T, NM_183240.2:c.186C>T, XM_047443445.1:c.-76C>T, XM_047443446.1:c.-76C>T

Select item 148509652620.

rs1485096526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:119428633 (GRCh38)
2:120186209 (GRCh37)
Canonical SPDI:: NC_000002.12:119428632:A:T
Gene:: TMEM37 (Varview)
Functional Consequence:: 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_000002.12:g.119428633A>T, NC_000002.11:g.120186209A>T

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