SNP Links for Nucleotide (Select 570700864) - SNP

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Links from Nucleotide

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Select item 14889824151.

rs1488982415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:129211021 (GRCh38)
12:129695566 (GRCh37)
Canonical SPDI:: NC_000012.12:129211020:G:C
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.129211021G>C, NC_000012.11:g.129695566G>C, NG_052808.1:g.697647C>G, NR_110058.1:n.841G>C

Select item 14886746962.

rs1488674696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:129212471 (GRCh38)
12:129697016 (GRCh37)
Canonical SPDI:: NC_000012.12:129212470:G:A
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.129212471G>A, NC_000012.11:g.129697016G>A, NG_052808.1:g.696197C>T, NR_110058.1:n.1377G>A

Select item 14877339343.

rs1487733934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:129212107 (GRCh38)
12:129696652 (GRCh37)
Canonical SPDI:: NC_000012.12:129212106:C:G
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: 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_000012.12:g.129212107C>G, NC_000012.11:g.129696652C>G, NG_052808.1:g.696561G>C, NR_110058.1:n.1013C>G

Select item 14866438334.

rs1486643833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:129209703 (GRCh38)
12:129694248 (GRCh37)
Canonical SPDI:: NC_000012.12:129209702:G:A
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.129209703G>A, NC_000012.11:g.129694248G>A, NG_052808.1:g.698965C>T, NR_110058.1:n.499G>A

Select item 14863879665.

rs1486387966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:129209718 (GRCh38)
12:129694263 (GRCh37)
Canonical SPDI:: NC_000012.12:129209717:C:A
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0004/2 (ALFA)
A=0.0004/2 (Estonian)
HGVS:: NC_000012.12:g.129209718C>A, NC_000012.11:g.129694263C>A, NG_052808.1:g.698950G>T, NR_110058.1:n.514C>A

Select item 14809882296.

rs1480988229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:129209579 (GRCh38)
12:129694124 (GRCh37)
Canonical SPDI:: NC_000012.12:129209578:T:C
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.129209579T>C, NC_000012.11:g.129694124T>C, NG_052808.1:g.699089A>G, NM_133448.3:c.1384A>G, NM_133448.2:c.1384A>G, NR_110058.1:n.375T>C, NP_597705.2:p.Thr462Ala

Select item 14792396167.

rs1479239616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:129211011 (GRCh38)
12:129695556 (GRCh37)
Canonical SPDI:: NC_000012.12:129211010:C:T
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_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_000012.12:g.129211011C>T, NC_000012.11:g.129695556C>T, NG_052808.1:g.697657G>A, NR_110058.1:n.831C>T

Select item 14780921298.

rs1478092129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:129212201 (GRCh38)
12:129696746 (GRCh37)
Canonical SPDI:: NC_000012.12:129212200:A:G
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.129212201A>G, NC_000012.11:g.129696746A>G, NG_052808.1:g.696467T>C, NR_110058.1:n.1107A>G

Select item 14748916119.

rs1474891611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:129208602 (GRCh38)
12:129693147 (GRCh37)
Canonical SPDI:: NC_000012.12:129208601:A:C,NC_000012.12:129208601:A:G
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0004/6 (ALFA)
C=0.00134/6 (Estonian)
HGVS:: NC_000012.12:g.129208602A>C, NC_000012.12:g.129208602A>G, NC_000012.11:g.129693147A>C, NC_000012.11:g.129693147A>G, NG_052808.1:g.700066T>G, NG_052808.1:g.700066T>C, NR_110058.1:n.2A>C, NR_110058.1:n.2A>G

Select item 147483186510.

rs1474831865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:129210255 (GRCh38)
12:129694800 (GRCh37)
Canonical SPDI:: NC_000012.12:129210254:C:A,NC_000012.12:129210254:C:T
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.129210255C>A, NC_000012.12:g.129210255C>T, NC_000012.11:g.129694800C>A, NC_000012.11:g.129694800C>T, NG_052808.1:g.698413G>T, NG_052808.1:g.698413G>A, NR_110058.1:n.738C>A, NR_110058.1:n.738C>T

Select item 147236848211.

rs1472368482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:129212336 (GRCh38)
12:129696881 (GRCh37)
Canonical SPDI:: NC_000012.12:129212335:G:A
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.129212336G>A, NC_000012.11:g.129696881G>A, NG_052808.1:g.696332C>T, NR_110058.1:n.1242G>A

Select item 147119007912.

rs1471190079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:129208934 (GRCh38)
12:129693479 (GRCh37)
Canonical SPDI:: NC_000012.12:129208933:C:A,NC_000012.12:129208933:C:T
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.129208934C>A, NC_000012.12:g.129208934C>T, NC_000012.11:g.129693479C>A, NC_000012.11:g.129693479C>T, NG_052808.1:g.699734G>T, NG_052808.1:g.699734G>A, NR_110058.1:n.334C>A, NR_110058.1:n.334C>T

Select item 147074390213.

rs1470743902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:129208758 (GRCh38)
12:129693303 (GRCh37)
Canonical SPDI:: NC_000012.12:129208757:G:A
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.129208758G>A, NC_000012.11:g.129693303G>A, NG_052808.1:g.699910C>T, NR_110058.1:n.158G>A

Select item 146745160814.

rs1467451608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:129210965 (GRCh38)
12:129695510 (GRCh37)
Canonical SPDI:: NC_000012.12:129210964:T:A
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.129210965T>A, NC_000012.11:g.129695510T>A, NG_052808.1:g.697703A>T, NR_110058.1:n.785T>A

Select item 146626557415.

rs1466265574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:129212046 (GRCh38)
12:129696591 (GRCh37)
Canonical SPDI:: NC_000012.12:129212045:C:T
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000142/2 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.129212046C>T, NC_000012.11:g.129696591C>T, NG_052808.1:g.696622G>A, NR_110058.1:n.952C>T

Select item 146312143516.

rs1463121435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:129212512 (GRCh38)
12:129697057 (GRCh37)
Canonical SPDI:: NC_000012.12:129212511:G:A
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_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_000012.12:g.129212512G>A, NC_000012.11:g.129697057G>A, NG_052808.1:g.696156C>T, NR_110058.1:n.1418G>A

Select item 146285140317.

rs1462851403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:129209587 (GRCh38)
12:129694132 (GRCh37)
Canonical SPDI:: NC_000012.12:129209586:T:C
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.129209587T>C, NC_000012.11:g.129694132T>C, NG_052808.1:g.699081A>G, NM_133448.3:c.1376A>G, NM_133448.2:c.1376A>G, NR_110058.1:n.383T>C, NP_597705.2:p.Asp459Gly

Select item 146258782018.

rs1462587820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:129210113 (GRCh38)
12:129694658 (GRCh37)
Canonical SPDI:: NC_000012.12:129210112:C:T
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000895/4 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000893/4 (Estonian)
HGVS:: NC_000012.12:g.129210113C>T, NC_000012.11:g.129694658C>T, NG_052808.1:g.698555G>A, NR_110058.1:n.596C>T

Select item 146035302519.

rs1460353025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:129210224 (GRCh38)
12:129694769 (GRCh37)
Canonical SPDI:: NC_000012.12:129210223:T:C
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.129210224T>C, NC_000012.11:g.129694769T>C, NG_052808.1:g.698444A>G, NR_110058.1:n.707T>C

Select item 145723508020.

rs1457235080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:129212224 (GRCh38)
12:129696769 (GRCh37)
Canonical SPDI:: NC_000012.12:129212223:T:A
Gene:: TMEM132D (Varview), TMEM132D-AS2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.129212224T>A, NC_000012.11:g.129696769T>A, NG_052808.1:g.696444A>T, NR_110058.1:n.1130T>A

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