SNP Links for Protein (Select 117553619) - SNP

Links from Protein

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Select item 14907978941.

rs1490797894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33201423 (GRCh38)
6:33169200 (GRCh37)
Canonical SPDI:: NC_000006.12:33201422:C:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.33201423C>T, NC_000006.11:g.33169200C>T, NG_023374.1:g.4233G>A, NT_113891.3:g.4612928C>T, NT_113891.2:g.4613034C>T, NT_167248.2:g.4395827C>T, NT_167248.1:g.4401423C>T, NT_167246.2:g.4620896C>T, NT_167246.1:g.4626516C>T, NT_167245.2:g.4444922C>T, NT_167245.1:g.4450507C>T, NT_167247.2:g.4637376C>T, NT_167247.1:g.4642961C>T, NM_006979.3:c.178C>T, NM_006979.2:c.178C>T, NM_001077516.2:c.178C>T, NM_001077516.1:c.178C>T, NP_008910.2:p.His60Tyr, NP_001070984.1:p.His60Tyr

Select item 14872137982.

rs1487213798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33201467 (GRCh38)
6:33169244 (GRCh37)
Canonical SPDI:: NC_000006.12:33201466:A:G
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33201467A>G, NC_000006.11:g.33169244A>G, NG_023374.1:g.4189T>C, NT_113891.3:g.4612972A>G, NT_113891.2:g.4613078A>G, NT_167248.2:g.4395871A>G, NT_167248.1:g.4401467A>G, NT_167246.2:g.4620940A>G, NT_167246.1:g.4626560A>G, NT_167245.2:g.4444966A>G, NT_167245.1:g.4450551A>G, NT_167247.2:g.4637420A>G, NT_167247.1:g.4643005A>G, NM_006979.3:c.222A>G, NM_006979.2:c.222A>G, NM_001077516.2:c.222A>G, NM_001077516.1:c.222A>G

Select item 14868728553.

rs1486872855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33201875 (GRCh38)
6:33169652 (GRCh37)
Canonical SPDI:: NC_000006.12:33201874:T:C
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33201875T>C, NC_000006.11:g.33169652T>C, NG_023374.1:g.3781A>G, NT_113891.3:g.4613380T>C, NT_113891.2:g.4613486T>C, NT_167248.2:g.4396279T>C, NT_167248.1:g.4401875T>C, NT_167246.2:g.4621348T>C, NT_167246.1:g.4626968T>C, NT_167245.2:g.4445374T>C, NT_167245.1:g.4450959T>C, NT_167247.2:g.4637828T>C, NT_167247.1:g.4643413T>C, NM_006979.3:c.542T>C, NM_006979.2:c.542T>C, NM_001077516.2:c.542T>C, NM_001077516.1:c.542T>C, NM_001288777.2:c.167T>C, NM_001288777.1:c.167T>C, NP_008910.2:p.Leu181Pro, NP_001070984.1:p.Leu181Pro, NP_001275706.1:p.Leu56Pro

Select item 14854518804.

rs1485451880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33203657 (GRCh38)
6:33171434 (GRCh37)
Canonical SPDI:: NC_000006.12:33203656:G:C
Gene:: SLC39A7 (Varview), HSD17B8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33203657G>C, NC_000006.11:g.33171434G>C, NG_023374.1:g.1999C>G, NT_113891.3:g.4615162G>C, NT_113891.2:g.4615268G>C, NT_167248.2:g.4398061G>C, NT_167248.1:g.4403657G>C, NT_167246.2:g.4623130G>C, NT_167246.1:g.4628750G>C, NT_167245.2:g.4447156G>C, NT_167245.1:g.4452741G>C, NT_167247.2:g.4639610G>C, NT_167247.1:g.4645195G>C, NM_006979.3:c.1254G>C, NM_006979.2:c.1254G>C, NM_001077516.2:c.1254G>C, NM_001077516.1:c.1254G>C, NM_001288777.2:c.879G>C, NM_001288777.1:c.879G>C, NP_008910.2:p.Trp418Cys, NP_001070984.1:p.Trp418Cys, NP_001275706.1:p.Trp293Cys

Select item 14852362335.

rs1485236233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33202295 (GRCh38)
6:33170072 (GRCh37)
Canonical SPDI:: NC_000006.12:33202294:G:A
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33202295G>A, NC_000006.11:g.33170072G>A, NG_023374.1:g.3361C>T, NT_113891.3:g.4613800G>A, NT_113891.2:g.4613906G>A, NT_167248.2:g.4396699G>A, NT_167248.1:g.4402295G>A, NT_167246.2:g.4621768G>A, NT_167246.1:g.4627388G>A, NT_167245.2:g.4445794G>A, NT_167245.1:g.4451379G>A, NT_167247.2:g.4638248G>A, NT_167247.1:g.4643833G>A, NM_006979.3:c.667G>A, NM_006979.2:c.667G>A, NM_001077516.2:c.667G>A, NM_001077516.1:c.667G>A, NM_001288777.2:c.292G>A, NM_001288777.1:c.292G>A, NP_008910.2:p.Val223Ile, NP_001070984.1:p.Val223Ile, NP_001275706.1:p.Val98Ile

Select item 14847401376.

rs1484740137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:33201578 (GRCh38)
6:33169355 (GRCh37)
Canonical SPDI:: NC_000006.12:33201577:G:C
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33201578G>C, NC_000006.11:g.33169355G>C, NG_023374.1:g.4078C>G, NT_113891.3:g.4613083G>C, NT_113891.2:g.4613189G>C, NT_167248.2:g.4395982G>C, NT_167248.1:g.4401578G>C, NT_167246.2:g.4621051G>C, NT_167246.1:g.4626671G>C, NT_167245.2:g.4445077G>C, NT_167245.1:g.4450662G>C, NT_167247.2:g.4637531G>C, NT_167247.1:g.4643116G>C, NM_006979.3:c.333G>C, NM_006979.2:c.333G>C, NM_001077516.2:c.333G>C, NM_001077516.1:c.333G>C, NP_008910.2:p.Glu111Asp, NP_001070984.1:p.Glu111Asp

Select item 14837180527.

rs1483718052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:33202920 (GRCh38)
6:33170697 (GRCh37)
Canonical SPDI:: NC_000006.12:33202919:G:A
Gene:: SLC39A7 (Varview), HSD17B8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.33202920G>A, NC_000006.11:g.33170697G>A, NG_023374.1:g.2736C>T, NT_113891.3:g.4614425G>A, NT_113891.2:g.4614531G>A, NT_167248.2:g.4397324G>A, NT_167248.1:g.4402920G>A, NT_167246.2:g.4622393G>A, NT_167246.1:g.4628013G>A, NT_167245.2:g.4446419G>A, NT_167245.1:g.4452004G>A, NT_167247.2:g.4638873G>A, NT_167247.1:g.4644458G>A, NM_006979.3:c.951G>A, NM_006979.2:c.951G>A, NM_001077516.2:c.951G>A, NM_001077516.1:c.951G>A, NM_001288777.2:c.576G>A, NM_001288777.1:c.576G>A

Select item 14817219118.

rs1481721911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33201889 (GRCh38)
6:33169666 (GRCh37)
Canonical SPDI:: NC_000006.12:33201888:C:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33201889C>T, NC_000006.11:g.33169666C>T, NG_023374.1:g.3767G>A, NT_113891.3:g.4613394C>T, NT_113891.2:g.4613500C>T, NT_167248.2:g.4396293C>T, NT_167248.1:g.4401889C>T, NT_167246.2:g.4621362C>T, NT_167246.1:g.4626982C>T, NT_167245.2:g.4445388C>T, NT_167245.1:g.4450973C>T, NT_167247.2:g.4637842C>T, NT_167247.1:g.4643427C>T, NM_006979.3:c.556C>T, NM_006979.2:c.556C>T, NM_001077516.2:c.556C>T, NM_001077516.1:c.556C>T, NM_001288777.2:c.181C>T, NM_001288777.1:c.181C>T

Select item 14811992939.

rs1481199293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:33201548 (GRCh38)
6:33169325 (GRCh37)
Canonical SPDI:: NC_000006.12:33201547:C:G
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,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_000006.12:g.33201548C>G, NC_000006.11:g.33169325C>G, NG_023374.1:g.4108G>C, NT_113891.3:g.4613053C>G, NT_113891.2:g.4613159C>G, NT_167248.2:g.4395952C>G, NT_167248.1:g.4401548C>G, NT_167246.2:g.4621021C>G, NT_167246.1:g.4626641C>G, NT_167245.2:g.4445047C>G, NT_167245.1:g.4450632C>G, NT_167247.2:g.4637501C>G, NT_167247.1:g.4643086C>G, NM_006979.3:c.303C>G, NM_006979.2:c.303C>G, NM_001077516.2:c.303C>G, NM_001077516.1:c.303C>G

Select item 147841230510.

rs1478412305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33201595 (GRCh38)
6:33169372 (GRCh37)
Canonical SPDI:: NC_000006.12:33201594:A:G
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33201595A>G, NC_000006.11:g.33169372A>G, NG_023374.1:g.4061T>C, NT_113891.3:g.4613100A>G, NT_113891.2:g.4613206A>G, NT_167248.2:g.4395999A>G, NT_167248.1:g.4401595A>G, NT_167246.2:g.4621068A>G, NT_167246.1:g.4626688A>G, NT_167245.2:g.4445094A>G, NT_167245.1:g.4450679A>G, NT_167247.2:g.4637548A>G, NT_167247.1:g.4643133A>G, NM_006979.3:c.350A>G, NM_006979.2:c.350A>G, NM_001077516.2:c.350A>G, NM_001077516.1:c.350A>G, NP_008910.2:p.Tyr117Cys, NP_001070984.1:p.Tyr117Cys

Select item 147696161511.

rs1476961615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33201394 (GRCh38)
6:33169171 (GRCh37)
Canonical SPDI:: NC_000006.12:33201393:C:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33201394C>T, NC_000006.11:g.33169171C>T, NG_023374.1:g.4262G>A, NT_113891.3:g.4612899C>T, NT_113891.2:g.4613005C>T, NT_167248.2:g.4395798C>T, NT_167248.1:g.4401394C>T, NT_167246.2:g.4620867C>T, NT_167246.1:g.4626487C>T, NT_167245.2:g.4444893C>T, NT_167245.1:g.4450478C>T, NT_167247.2:g.4637347C>T, NT_167247.1:g.4642932C>T, NM_006979.3:c.149C>T, NM_006979.2:c.149C>T, NM_001077516.2:c.149C>T, NM_001077516.1:c.149C>T, NP_008910.2:p.Ser50Leu, NP_001070984.1:p.Ser50Leu

Select item 147640076012.

rs1476400760 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33201478 (GRCh38)
6:33169255 (GRCh37)
Canonical SPDI:: NC_000006.12:33201477:A:G
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33201478A>G, NC_000006.11:g.33169255A>G, NG_023374.1:g.4178T>C, NT_113891.3:g.4612983A>G, NT_113891.2:g.4613089A>G, NT_167248.2:g.4395882A>G, NT_167248.1:g.4401478A>G, NT_167246.2:g.4620951A>G, NT_167246.1:g.4626571A>G, NT_167245.2:g.4444977A>G, NT_167245.1:g.4450562A>G, NT_167247.2:g.4637431A>G, NT_167247.1:g.4643016A>G, NM_006979.3:c.233A>G, NM_006979.2:c.233A>G, NM_001077516.2:c.233A>G, NM_001077516.1:c.233A>G, NP_008910.2:p.Asp78Gly, NP_001070984.1:p.Asp78Gly

Select item 147591601313.

rs1475916013 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:33202292 (GRCh38)
6:33170069 (GRCh37)
Canonical SPDI:: NC_000006.12:33202289:TGTG:TG
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.33202290TG[1], NC_000006.11:g.33170067TG[1], NG_023374.1:g.3363CA[1], NT_113891.3:g.4613795TG[1], NT_113891.2:g.4613901TG[1], NT_167248.2:g.4396694TG[1], NT_167248.1:g.4402290TG[1], NT_167246.2:g.4621763TG[1], NT_167246.1:g.4627383TG[1], NT_167245.2:g.4445789TG[1], NT_167245.1:g.4451374TG[1], NT_167247.2:g.4638243TG[1], NT_167247.1:g.4643828TG[1], NM_006979.3:c.664_665del, NM_006979.2:c.664_665del, NM_001077516.2:c.664_665del, NM_001077516.1:c.664_665del, NM_001288777.2:c.289_290del, NM_001288777.1:c.289_290del, NP_008910.2:p.Trp222fs, NP_001070984.1:p.Trp222fs, NP_001275706.1:p.Trp97fs

Select item 147448660414.

rs1474486604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:33203668 (GRCh38)
6:33171445 (GRCh37)
Canonical SPDI:: NC_000006.12:33203667:T:C
Gene:: SLC39A7 (Varview), HSD17B8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33203668T>C, NC_000006.11:g.33171445T>C, NG_023374.1:g.1988A>G, NT_113891.3:g.4615173T>C, NT_113891.2:g.4615279T>C, NT_167248.2:g.4398072T>C, NT_167248.1:g.4403668T>C, NT_167246.2:g.4623141T>C, NT_167246.1:g.4628761T>C, NT_167245.2:g.4447167T>C, NT_167245.1:g.4452752T>C, NT_167247.2:g.4639621T>C, NT_167247.1:g.4645206T>C, NM_006979.3:c.1265T>C, NM_006979.2:c.1265T>C, NM_001077516.2:c.1265T>C, NM_001077516.1:c.1265T>C, NM_001288777.2:c.890T>C, NM_001288777.1:c.890T>C, NP_008910.2:p.Phe422Ser, NP_001070984.1:p.Phe422Ser, NP_001275706.1:p.Phe297Ser

Select item 147269560215.

rs1472695602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:33202633 (GRCh38)
6:33170410 (GRCh37)
Canonical SPDI:: NC_000006.12:33202632:A:G
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.33202633A>G, NC_000006.11:g.33170410A>G, NG_023374.1:g.3023T>C, NT_113891.3:g.4614138A>G, NT_113891.2:g.4614244A>G, NT_167248.2:g.4397037A>G, NT_167248.1:g.4402633A>G, NT_167246.2:g.4622106A>G, NT_167246.1:g.4627726A>G, NT_167245.2:g.4446132A>G, NT_167245.1:g.4451717A>G, NT_167247.2:g.4638586A>G, NT_167247.1:g.4644171A>G, NM_006979.3:c.873A>G, NM_006979.2:c.873A>G, NM_001077516.2:c.873A>G, NM_001077516.1:c.873A>G, NM_001288777.2:c.498A>G, NM_001288777.1:c.498A>G

Select item 146186798616.

rs1461867986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33201572 (GRCh38)
6:33169349 (GRCh37)
Canonical SPDI:: NC_000006.12:33201571:C:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.33201572C>T, NC_000006.11:g.33169349C>T, NG_023374.1:g.4084G>A, NT_113891.3:g.4613077C>T, NT_113891.2:g.4613183C>T, NT_167248.2:g.4395976C>T, NT_167248.1:g.4401572C>T, NT_167246.2:g.4621045C>T, NT_167246.1:g.4626665C>T, NT_167245.2:g.4445071C>T, NT_167245.1:g.4450656C>T, NT_167247.2:g.4637525C>T, NT_167247.1:g.4643110C>T, NM_006979.3:c.327C>T, NM_006979.2:c.327C>T, NM_001077516.2:c.327C>T, NM_001077516.1:c.327C>T

Select item 145740837117.

rs1457408371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:33201803 (GRCh38)
6:33169580 (GRCh37)
Canonical SPDI:: NC_000006.12:33201802:C:A
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.33201803C>A, NC_000006.11:g.33169580C>A, NG_023374.1:g.3853G>T, NT_113891.3:g.4613308C>A, NT_113891.2:g.4613414C>A, NT_167248.2:g.4396207C>A, NT_167248.1:g.4401803C>A, NT_167246.2:g.4621276C>A, NT_167246.1:g.4626896C>A, NT_167245.2:g.4445302C>A, NT_167245.1:g.4450887C>A, NT_167247.2:g.4637756C>A, NT_167247.1:g.4643341C>A, NM_006979.3:c.470C>A, NM_006979.2:c.470C>A, NM_001077516.2:c.470C>A, NM_001077516.1:c.470C>A, NM_001288777.2:c.95C>A, NM_001288777.1:c.95C>A, NP_008910.2:p.Pro157His, NP_001070984.1:p.Pro157His, NP_001275706.1:p.Pro32His

Select item 145512774818.

rs1455127748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33202386 (GRCh38)
6:33170163 (GRCh37)
Canonical SPDI:: NC_000006.12:33202385:C:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.33202386C>T, NC_000006.11:g.33170163C>T, NG_023374.1:g.3270G>A, NT_113891.3:g.4613891C>T, NT_113891.2:g.4613997C>T, NT_167248.2:g.4396790C>T, NT_167248.1:g.4402386C>T, NT_167246.2:g.4621859C>T, NT_167246.1:g.4627479C>T, NT_167245.2:g.4445885C>T, NT_167245.1:g.4451470C>T, NT_167247.2:g.4638339C>T, NT_167247.1:g.4643924C>T, NM_006979.3:c.758C>T, NM_006979.2:c.758C>T, NM_001077516.2:c.758C>T, NM_001077516.1:c.758C>T, NM_001288777.2:c.383C>T, NM_001288777.1:c.383C>T, NP_008910.2:p.Ala253Val, NP_001070984.1:p.Ala253Val, NP_001275706.1:p.Ala128Val

Select item 145456144519.

rs1454561445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33203050 (GRCh38)
6:33170827 (GRCh37)
Canonical SPDI:: NC_000006.12:33203049:C:T
Gene:: SLC39A7 (Varview), HSD17B8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.33203050C>T, NC_000006.11:g.33170827C>T, NG_023374.1:g.2606G>A, NT_113891.3:g.4614555C>T, NT_113891.2:g.4614661C>T, NT_167248.2:g.4397454C>T, NT_167248.1:g.4403050C>T, NT_167246.2:g.4622523C>T, NT_167246.1:g.4628143C>T, NT_167245.2:g.4446549C>T, NT_167245.1:g.4452134C>T, NT_167247.2:g.4639003C>T, NT_167247.1:g.4644588C>T, NM_006979.3:c.1081C>T, NM_006979.2:c.1081C>T, NM_001077516.2:c.1081C>T, NM_001077516.1:c.1081C>T, NM_001288777.2:c.706C>T, NM_001288777.1:c.706C>T, NP_008910.2:p.Pro361Ser, NP_001070984.1:p.Pro361Ser, NP_001275706.1:p.Pro236Ser

Select item 144895500220.

rs1448955002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:33201567 (GRCh38)
6:33169344 (GRCh37)
Canonical SPDI:: NC_000006.12:33201566:C:T
Gene:: RXRB (Varview), SLC39A7 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.33201567C>T, NC_000006.11:g.33169344C>T, NG_023374.1:g.4089G>A, NT_113891.3:g.4613072C>T, NT_113891.2:g.4613178C>T, NT_167248.2:g.4395971C>T, NT_167248.1:g.4401567C>T, NT_167246.2:g.4621040C>T, NT_167246.1:g.4626660C>T, NT_167245.2:g.4445066C>T, NT_167245.1:g.4450651C>T, NT_167247.2:g.4637520C>T, NT_167247.1:g.4643105C>T, NM_006979.3:c.322C>T, NM_006979.2:c.322C>T, NM_001077516.2:c.322C>T, NM_001077516.1:c.322C>T, NP_008910.2:p.His108Tyr, NP_001070984.1:p.His108Tyr

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