SNP Links for Gene (Select 100129515) - SNP

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Select item 14887166861.

rs1488716686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135119970 (GRCh38)
X:134253898 (GRCh37)
Canonical SPDI:: NC_000023.11:135119969:C:T
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00152/18 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.00104/5 (1000Genomes)
T=0.0013/91 (GnomAD)
HGVS:: NC_000023.11:g.135119970C>T, NW_004070887.1:g.51114C>T, NC_000023.10:g.134253898C>T, NM_001355519.1:c.-286G>A, NR_033941.1:n.40G>A

Select item 14860708832.

rs1486070883 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: X:135119380 (GRCh38)
X:134253309 (GRCh37)
Canonical SPDI:: NC_000023.11:135119380:A:AGA
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.135119381_135119382insGA, NW_004070887.1:g.50525_50526insGA, NC_000023.10:g.134253309_134253310insGA

Select item 14858741763.

rs1485874176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135118864 (GRCh38)
X:134252790 (GRCh37)
Canonical SPDI:: NC_000023.11:135118863:A:G
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000136/36 (TOPMED)
G=0.000181/18 (GnomAD)
HGVS:: NC_000023.11:g.135118864A>G, NW_004070887.1:g.50008A>G, NC_000023.10:g.134252790A>G

Select item 14844335344.

rs1484433534 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: X:135120184 (GRCh38)
X:134254112 (GRCh37)
Canonical SPDI:: NC_000023.11:135120180:TGTGT:TGT
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.135120182GT[1], NW_004070887.1:g.51326GT[1], NC_000023.10:g.134254110GT[1]

Select item 14842073795.

rs1484207379 has merged into rs781948350 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC [Show Flanks]
Chromosome:: X:135119397 (GRCh38)
X:134253323 (GRCh37)
Canonical SPDI:: NC_000023.11:135119377:CACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000023.11:135119377:CACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000023.11:135119377:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000023.11:135119377:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000023.11:135119377:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000023.11:135119377:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000023.11:135119377:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000023.11:135119377:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000023.11:135119377:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000023.11:135119377:CACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000023.11:g.135119379AC[9], NC_000023.11:g.135119379AC[10], NC_000023.11:g.135119379AC[11], NC_000023.11:g.135119379AC[12], NC_000023.11:g.135119379AC[13], NC_000023.11:g.135119379AC[14], NC_000023.11:g.135119379AC[16], NC_000023.11:g.135119379AC[17], NC_000023.11:g.135119379AC[18], NC_000023.11:g.135119379AC[19], NW_004070887.1:g.50523AC[9], NW_004070887.1:g.50523AC[10], NW_004070887.1:g.50523AC[11], NW_004070887.1:g.50523AC[12], NW_004070887.1:g.50523AC[13], NW_004070887.1:g.50523AC[14], NW_004070887.1:g.50523AC[16], NW_004070887.1:g.50523AC[17], NW_004070887.1:g.50523AC[18], NW_004070887.1:g.50523AC[19], NC_000023.10:g.134253305AC[10], NC_000023.10:g.134253305AC[11], NC_000023.10:g.134253305AC[12], NC_000023.10:g.134253305AC[13], NC_000023.10:g.134253305AC[14], NC_000023.10:g.134253305AC[15], NC_000023.10:g.134253305AC[17], NC_000023.10:g.134253305AC[18], NC_000023.10:g.134253305AC[19], NC_000023.10:g.134253305AC[20]

Select item 14841044346.

rs1484104434 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:135121767 (GRCh38)
X:134255695 (GRCh37)
Canonical SPDI:: NC_000023.11:135121766:A:T
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.135121767A>T, NW_004070887.1:g.52911A>T, NC_000023.10:g.134255695A>T

Select item 14839079297.

rs1483907929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:135120342 (GRCh38)
X:134254270 (GRCh37)
Canonical SPDI:: NC_000023.11:135120341:C:A
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.135120342C>A, NW_004070887.1:g.51486C>A, NC_000023.10:g.134254270C>A

Select item 14824692498.

rs1482469249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:135122389 (GRCh38)
X:134256317 (GRCh37)
Canonical SPDI:: NC_000023.11:135122388:A:C
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.135122389A>C, NW_004070887.1:g.53533A>C, NC_000023.10:g.134256317A>C

Select item 14801925379.

rs1480192537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:135118496 (GRCh38)
X:134252422 (GRCh37)
Canonical SPDI:: NC_000023.11:135118495:G:A,NC_000023.11:135118495:G:T
Gene:: ETDB (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.135118496G>A, NC_000023.11:g.135118496G>T, NW_004070887.1:g.49640G>A, NW_004070887.1:g.49640G>T, NC_000023.10:g.134252422G>A, NC_000023.10:g.134252422G>T

Select item 148015159310.

rs1480151593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:135120167 (GRCh38)
X:134254095 (GRCh37)
Canonical SPDI:: NC_000023.11:135120166:G:A,NC_000023.11:135120166:G:T
Gene:: ETDB (Varview), SMIM10L2B-AS1 (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)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135120167G>A, NC_000023.11:g.135120167G>T, NW_004070887.1:g.51311G>A, NW_004070887.1:g.51311G>T, NC_000023.10:g.134254095G>A, NC_000023.10:g.134254095G>T

Select item 147995741311.

rs1479957413 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: X:135121561 (GRCh38)
X:134255489 (GRCh37)
Canonical SPDI:: NC_000023.11:135121560:CCCCC:CCCC
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
HGVS:: NC_000023.11:g.135121565del, NW_004070887.1:g.52709del, NC_000023.10:g.134255493del

Select item 147819298912.

rs1478192989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135122364 (GRCh38)
X:134256292 (GRCh37)
Canonical SPDI:: NC_000023.11:135122363:A:G
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00034/4 (ALFA)
G=0.00034/12 (GnomAD)
G=0.00042/2 (1000Genomes)
HGVS:: NC_000023.11:g.135122364A>G, NW_004070887.1:g.53508A>G, NC_000023.10:g.134256292A>G

Select item 147751195113.

rs1477511951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135121704 (GRCh38)
X:134255632 (GRCh37)
Canonical SPDI:: NC_000023.11:135121703:C:T
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.135121704C>T, NW_004070887.1:g.52848C>T, NC_000023.10:g.134255632C>T

Select item 147584035814.

rs1475840358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135119560 (GRCh38)
X:134253488 (GRCh37)
Canonical SPDI:: NC_000023.11:135119559:C:T
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00009/7 (GnomAD)
HGVS:: NC_000023.11:g.135119560C>T, NW_004070887.1:g.50704C>T, NC_000023.10:g.134253488C>T

Select item 147516081915.

rs1475160819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135119705 (GRCh38)
X:134253633 (GRCh37)
Canonical SPDI:: NC_000023.11:135119704:C:T
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.135119705C>T, NW_004070887.1:g.50849C>T, NC_000023.10:g.134253633C>T

Select item 147420448416.

rs1474204484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135120309 (GRCh38)
X:134254237 (GRCh37)
Canonical SPDI:: NC_000023.11:135120308:T:C
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000214/3 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.135120309T>C, NW_004070887.1:g.51453T>C, NC_000023.10:g.134254237T>C

Select item 147414171917.

rs1474141719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:135118829 (GRCh38)
X:134252755 (GRCh37)
Canonical SPDI:: NC_000023.11:135118828:C:G,NC_000023.11:135118828:C:T
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.135118829C>G, NC_000023.11:g.135118829C>T, NW_004070887.1:g.49973C>G, NW_004070887.1:g.49973C>T, NC_000023.10:g.134252755C>G, NC_000023.10:g.134252755C>T

Select item 147387561718.

rs1473875617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135121958 (GRCh38)
X:134255886 (GRCh37)
Canonical SPDI:: NC_000023.11:135121957:C:T
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135121958C>T, NW_004070887.1:g.53102C>T, NC_000023.10:g.134255886C>T

Select item 147381354719.

rs1473813547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135119543 (GRCh38)
X:134253471 (GRCh37)
Canonical SPDI:: NC_000023.11:135119542:G:A
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
A=0.00011/8 (GnomAD)
HGVS:: NC_000023.11:g.135119543G>A, NW_004070887.1:g.50687G>A, NC_000023.10:g.134253471G>A

Select item 147319666820.

rs1473196668 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:135122085 (GRCh38)
X:134256014 (GRCh37)
Canonical SPDI:: NC_000023.11:135122085:AAAA:AAAAA
Gene:: ETDB (Varview), SMIM10L2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135122089dup, NW_004070887.1:g.53233dup, NC_000023.10:g.134256017dup

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