SNP Links for Gene (Select 1618) - SNP

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Items: 1 to 20 of 5741

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Select item 14915492281.

rs1491549228 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:16599195 (GRCh38)
3:16640702 (GRCh37)
Canonical SPDI:: NC_000003.12:16599193:ACA:A
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000061/8 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.16599195_16599196del, NC_000003.11:g.16640702_16640703del, NG_023329.1:g.11305_11306del

Select item 14914274352.

rs1491427435 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:16596963 (GRCh38)
3:16638470 (GRCh37)
Canonical SPDI:: NC_000003.12:16596959:AAAAA:AAA
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000008/2 (GnomAD_exomes)
-=0.000017/2 (ExAC)
HGVS:: NC_000003.12:g.16596963_16596964del, NC_000003.11:g.16638470_16638471del, NG_023329.1:g.13539_13540del

Select item 14908478323.

rs1490847832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:16592243 (GRCh38)
3:16633750 (GRCh37)
Canonical SPDI:: NC_000003.12:16592242:A:T
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.16592243A>T, NC_000003.11:g.16633750A>T, NG_023329.1:g.18257T>A

Select item 14907499384.

rs1490749938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:16599054 (GRCh38)
3:16640561 (GRCh37)
Canonical SPDI:: NC_000003.12:16599053:A:G
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.16599054A>G, NC_000003.11:g.16640561A>G, NG_023329.1:g.11446T>C

Select item 14906774545.

rs1490677454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:16599797 (GRCh38)
3:16641304 (GRCh37)
Canonical SPDI:: NC_000003.12:16599796:G:A
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.16599797G>A, NC_000003.11:g.16641304G>A, NG_023329.1:g.10703C>T

Select item 14906494266.

rs1490649426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:16588682 (GRCh38)
3:16630189 (GRCh37)
Canonical SPDI:: NC_000003.12:16588681:C:T
Gene:: DAZL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000003.12:g.16588682C>T, NC_000003.11:g.16630189C>T, NG_023329.1:g.21818G>A, NM_001351.4:c.866G>A, NM_001351.3:c.866G>A, NM_001190811.2:c.926G>A, NM_001190811.1:c.926G>A, NP_001342.2:p.Arg289Gln, NP_001177740.1:p.Arg309Gln

Select item 14905895517.

rs1490589551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:16599390 (GRCh38)
3:16640897 (GRCh37)
Canonical SPDI:: NC_000003.12:16599389:C:A
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.16599390C>A, NC_000003.11:g.16640897C>A, NG_023329.1:g.11110G>T

Select item 14905796818.

rs1490579681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:16594609 (GRCh38)
3:16636116 (GRCh37)
Canonical SPDI:: NC_000003.12:16594608:A:G
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.16594609A>G, NC_000003.11:g.16636116A>G, NG_023329.1:g.15891T>C

Select item 14905233249.

rs1490523324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:16597665 (GRCh38)
3:16639172 (GRCh37)
Canonical SPDI:: NC_000003.12:16597664:T:C
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.16597665T>C, NC_000003.11:g.16639172T>C, NG_023329.1:g.12835A>G

Select item 149051502710.

rs1490515027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:16600160 (GRCh38)
3:16641667 (GRCh37)
Canonical SPDI:: NC_000003.12:16600159:G:A
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.16600160G>A, NC_000003.11:g.16641667G>A, NG_023329.1:g.10340C>T

Select item 149043150611.

rs1490431506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:16590089 (GRCh38)
3:16631596 (GRCh37)
Canonical SPDI:: NC_000003.12:16590088:A:C
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000003.12:g.16590089A>C, NC_000003.11:g.16631596A>C, NG_023329.1:g.20411T>G

Select item 149032414012.

rs1490324140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:16598989 (GRCh38)
3:16640496 (GRCh37)
Canonical SPDI:: NC_000003.12:16598988:G:A
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000003.12:g.16598989G>A, NC_000003.11:g.16640496G>A, NG_023329.1:g.11511C>T

Select item 149008804713.

rs1490088047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:16596833 (GRCh38)
3:16638340 (GRCh37)
Canonical SPDI:: NC_000003.12:16596832:A:T
Gene:: DAZL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.16596833A>T, NC_000003.11:g.16638340A>T, NG_023329.1:g.13667T>A, NM_001351.4:c.415T>A, NM_001351.3:c.415T>A, NM_001190811.2:c.475T>A, NM_001190811.1:c.475T>A, NP_001342.2:p.Phe139Ile, NP_001177740.1:p.Phe159Ile

Select item 149006761914.

rs1490067619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:16598218 (GRCh38)
3:16639725 (GRCh37)
Canonical SPDI:: NC_000003.12:16598217:A:G
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.16598218A>G, NC_000003.11:g.16639725A>G, NG_023329.1:g.12282T>C

Select item 149003319415.

rs1490033194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:16596502 (GRCh38)
3:16638009 (GRCh37)
Canonical SPDI:: NC_000003.12:16596501:G:A
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.16596502G>A, NC_000003.11:g.16638009G>A, NG_023329.1:g.13998C>T

Select item 148983774016.

rs1489837740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:16592657 (GRCh38)
3:16634164 (GRCh37)
Canonical SPDI:: NC_000003.12:16592656:T:C
Gene:: DAZL (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_000003.12:g.16592657T>C, NC_000003.11:g.16634164T>C, NG_023329.1:g.17843A>G

Select item 148959655117.

rs1489596551 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:16601953 (GRCh38)
3:16643460 (GRCh37)
Canonical SPDI:: NC_000003.12:16601952:TG:
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.16601953_16601954del, NC_000003.11:g.16643460_16643461del, NG_023329.1:g.8546_8547del

Select item 148957222318.

rs1489572223 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:16591414 (GRCh38)
3:16632921 (GRCh37)
Canonical SPDI:: NC_000003.12:16591413:T:C
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.16591414T>C, NC_000003.11:g.16632921T>C, NG_023329.1:g.19086A>G

Select item 148952889919.

rs1489528899 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:16603838 (GRCh38)
3:16645345 (GRCh37)
Canonical SPDI:: NC_000003.12:16603837:T:A,NC_000003.12:16603837:T:C
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.16603838T>A, NC_000003.12:g.16603838T>C, NC_000003.11:g.16645345T>A, NC_000003.11:g.16645345T>C, NG_023329.1:g.6662A>T, NG_023329.1:g.6662A>G

Select item 148946348820.

rs1489463488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:16602216 (GRCh38)
3:16643723 (GRCh37)
Canonical SPDI:: NC_000003.12:16602215:A:G
Gene:: DAZL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.16602216A>G, NC_000003.11:g.16643723A>G, NG_023329.1:g.8284T>C

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