SNP Links for Gene (Select 8747) - SNP

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Select item 14910250701.

rs1491025070 has merged into rs10676561 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 14:70453048 (GRCh38)
14:70919765 (GRCh37)
Canonical SPDI:: NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:70453035:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
-=0.4501/2254 (1000Genomes)
HGVS:: NC_000014.9:g.70453036GT[6], NC_000014.9:g.70453036GT[7], NC_000014.9:g.70453036GT[8], NC_000014.9:g.70453036GT[9], NC_000014.9:g.70453036GT[10], NC_000014.9:g.70453036GT[12], NC_000014.9:g.70453036GT[13], NC_000014.9:g.70453036GT[14], NC_000014.9:g.70453036GT[15], NC_000014.9:g.70453036GT[16], NC_000014.9:g.70453036GT[17], NC_000014.8:g.70919753GT[6], NC_000014.8:g.70919753GT[7], NC_000014.8:g.70919753GT[8], NC_000014.8:g.70919753GT[9], NC_000014.8:g.70919753GT[10], NC_000014.8:g.70919753GT[12], NC_000014.8:g.70919753GT[13], NC_000014.8:g.70919753GT[14], NC_000014.8:g.70919753GT[15], NC_000014.8:g.70919753GT[16], NC_000014.8:g.70919753GT[17]

Select item 14909207832.

rs1490920783 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:70454655 (GRCh38)
14:70921372 (GRCh37)
Canonical SPDI:: NC_000014.9:70454654:C:A
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.70454655C>A, NC_000014.8:g.70921372C>A

Select item 14907530843.

rs1490753084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:70459248 (GRCh38)
14:70925965 (GRCh37)
Canonical SPDI:: NC_000014.9:70459247:T:C
Gene:: ADAM21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.00003/8 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000014.9:g.70459248T>C, NC_000014.8:g.70925965T>C, NM_003813.4:c.1749T>C, NM_003813.3:c.1749T>C

Select item 14899466284.

rs1489946628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:70454642 (GRCh38)
14:70921359 (GRCh37)
Canonical SPDI:: NC_000014.9:70454641:T:C
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.70454642T>C, NC_000014.8:g.70921359T>C

Select item 14899369785.

rs1489936978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:70455611 (GRCh38)
14:70922328 (GRCh37)
Canonical SPDI:: NC_000014.9:70455610:A:T
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000014.9:g.70455611A>T, NC_000014.8:g.70922328A>T

Select item 14899263366.

rs1489926336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:70459562 (GRCh38)
14:70926279 (GRCh37)
Canonical SPDI:: NC_000014.9:70459561:T:C
Gene:: ADAM21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.70459562T>C, NC_000014.8:g.70926279T>C, NM_003813.4:c.2063T>C, NM_003813.3:c.2063T>C, NP_003804.2:p.Val688Ala

Select item 14898721867.

rs1489872186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:70456619 (GRCh38)
14:70923336 (GRCh37)
Canonical SPDI:: NC_000014.9:70456618:C:T
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.70456619C>T, NC_000014.8:g.70923336C>T

Select item 14897801008.

rs1489780100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:70452691 (GRCh38)
14:70919408 (GRCh37)
Canonical SPDI:: NC_000014.9:70452690:G:T
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.70452691G>T, NC_000014.8:g.70919408G>T

Select item 14894930789.

rs1489493078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:70455708 (GRCh38)
14:70922425 (GRCh37)
Canonical SPDI:: NC_000014.9:70455707:C:G
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_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_000014.9:g.70455708C>G, NC_000014.8:g.70922425C>G

Select item 148918292810.

rs1489182928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:70457829 (GRCh38)
14:70924546 (GRCh37)
Canonical SPDI:: NC_000014.9:70457828:C:A
Gene:: ADAM21 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.70457829C>A, NC_000014.8:g.70924546C>A, NM_003813.4:c.330C>A, NM_003813.3:c.330C>A, NP_003804.2:p.Tyr110Ter

Select item 148910007911.

rs1489100079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:70456126 (GRCh38)
14:70922843 (GRCh37)
Canonical SPDI:: NC_000014.9:70456125:A:G
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_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_000014.9:g.70456126A>G, NC_000014.8:g.70922843A>G

Select item 148896744712.

rs1488967447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:70457059 (GRCh38)
14:70923776 (GRCh37)
Canonical SPDI:: NC_000014.9:70457058:C:A,NC_000014.9:70457058:C:T
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.70457059C>A, NC_000014.9:g.70457059C>T, NC_000014.8:g.70923776C>A, NC_000014.8:g.70923776C>T

Select item 148805496313.

rs1488054963 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:70456557 (GRCh38)
14:70923274 (GRCh37)
Canonical SPDI:: NC_000014.9:70456556:AAA:AA
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.70456559del, NC_000014.8:g.70923276del

Select item 148756077014.

rs1487560770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:70457672 (GRCh38)
14:70924389 (GRCh37)
Canonical SPDI:: NC_000014.9:70457671:C:T
Gene:: ADAM21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000014.9:g.70457672C>T, NC_000014.8:g.70924389C>T, NM_003813.4:c.173C>T, NM_003813.3:c.173C>T, NP_003804.2:p.Pro58Leu

Select item 148713122715.

rs1487131227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:70458627 (GRCh38)
14:70925344 (GRCh37)
Canonical SPDI:: NC_000014.9:70458626:C:G
Gene:: ADAM21 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.70458627C>G, NC_000014.8:g.70925344C>G, NM_003813.4:c.1128C>G, NM_003813.3:c.1128C>G

Select item 148707289516.

rs1487072895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:70456968 (GRCh38)
14:70923685 (GRCh37)
Canonical SPDI:: NC_000014.9:70456967:T:A
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.70456968T>A, NC_000014.8:g.70923685T>A

Select item 148672667417.

rs1486726674 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTTC [Show Flanks]
Chromosome:: 14:70455046 (GRCh38)
14:70921764 (GRCh37)
Canonical SPDI:: NC_000014.9:70455046:GGTTC:GGTTCGGTTC
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGTTCGGTTC=0./0 (ALFA)
GGTTC=0.000093/13 (GnomAD)
HGVS:: NC_000014.9:g.70455047_70455051dup, NC_000014.8:g.70921764_70921768dup

Select item 148653689218.

rs1486536892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:70450772 (GRCh38)
14:70917489 (GRCh37)
Canonical SPDI:: NC_000014.9:70450771:A:G
Gene:: ADAM21 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.70450772A>G, NC_000014.8:g.70917489A>G

Select item 148643442619.

rs1486434426 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:70452835 (GRCh38)
14:70919552 (GRCh37)
Canonical SPDI:: NC_000014.9:70452834:G:A,NC_000014.9:70452834:G:C
Gene:: ADAM21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.70452835G>A, NC_000014.9:g.70452835G>C, NC_000014.8:g.70919552G>A, NC_000014.8:g.70919552G>C

Select item 148633907120.

rs1486339071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:70458302 (GRCh38)
14:70925019 (GRCh37)
Canonical SPDI:: NC_000014.9:70458301:C:T
Gene:: ADAM21 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.70458302C>T, NC_000014.8:g.70925019C>T, NM_003813.4:c.803C>T, NM_003813.3:c.803C>T, NP_003804.2:p.Pro268Leu

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