SNP Links for Protein (Select 612149748) - SNP

Links from Protein

Items: 1 to 20 of 376

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Select item 14908093071.

rs1490809307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13371134 (GRCh38)
1:13697592 (GRCh37)
Canonical SPDI:: NC_000001.11:13371133:C:T
Gene:: PRAMEF19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.13371134C>T, NC_000001.10:g.13697592C>T, NM_001099790.5:c.381G>A, NM_001099790.4:c.381G>A, NM_001099790.3:c.381G>A, NM_001099790.2:c.381G>A, NM_001099790.1:c.381G>A, NM_001099850.1:c.381G>A, NM_001099850.2:c.381G>A, NM_001024659.1:c.174G>A

Select item 14868606042.

rs1486860604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:13369526 (GRCh38)
1:13695984 (GRCh37)
Canonical SPDI:: NC_000001.11:13369525:C:G
Gene:: PRAMEF19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.13369526C>G, NC_000001.10:g.13695984C>G, NM_001099790.5:c.981G>C, NM_001099790.4:c.981G>C, NM_001099790.3:c.981G>C, NM_001099790.2:c.981G>C, NM_001099790.1:c.981G>C, NM_001099850.1:c.981G>C, NM_001099850.2:c.981G>C, NM_001024659.1:c.774G>C

Select item 14852783743.

rs1485278374 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:13369573 (GRCh38)
1:13696031 (GRCh37)
Canonical SPDI:: NC_000001.11:13369572:A:G
Gene:: PRAMEF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.13369573A>G, NC_000001.10:g.13696031A>G, NM_001099790.5:c.934T>C, NM_001099790.4:c.934T>C, NM_001099790.3:c.934T>C, NM_001099790.2:c.934T>C, NM_001099790.1:c.934T>C, NM_001099850.1:c.934T>C, NM_001099850.2:c.934T>C, NM_001024659.1:c.727T>C, NP_001093260.3:p.Cys312Arg

Select item 14851779184.

rs1485177918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13369464 (GRCh38)
1:13695922 (GRCh37)
Canonical SPDI:: NC_000001.11:13369463:G:A
Gene:: PRAMEF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000001.11:g.13369464G>A, NC_000001.10:g.13695922G>A, NM_001099790.5:c.1043C>T, NM_001099790.4:c.1043C>T, NM_001099790.3:c.1043C>T, NM_001099790.2:c.1043C>T, NM_001099790.1:c.1043C>T, NM_001099850.1:c.1043C>T, NM_001099850.2:c.1043C>T, NM_001024659.1:c.836C>T, NP_001093260.3:p.Ala348Val

Select item 14848541325.

rs1484854132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:13369084 (GRCh38)
1:13695542 (GRCh37)
Canonical SPDI:: NC_000001.11:13369083:G:A,NC_000001.11:13369083:G:T
Gene:: PRAMEF19 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (SGDP_PRJ)
A=0.00011/0 (TOMMO)
A=0.00031/2 (1000Genomes)
G=0.12214/32 (KOREAN)
HGVS:: NC_000001.11:g.13369084G>A, NC_000001.11:g.13369084G>T, NC_000001.10:g.13695542G>A, NC_000001.10:g.13695542G>T, NM_001099790.5:c.1423C>T, NM_001099790.5:c.1423C>A, NM_001099790.4:c.1423C>T, NM_001099790.4:c.1423C>A, NM_001099790.3:c.1423C>T, NM_001099790.3:c.1423C>A, NM_001099790.2:c.1423C>T, NM_001099790.2:c.1423C>A, NM_001099790.1:c.1423C>T, NM_001099790.1:c.1423C>A, NM_001099850.1:c.1423C>T, NM_001099850.1:c.1423C>A, NM_001099850.2:c.1423T>C, NM_001099850.2:c.1423T>A, NM_001024659.1:c.1216C>T, NM_001024659.1:c.1216C>A, NP_001093260.3:p.Arg475Trp

Select item 14843267946.

rs1484326794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13370795 (GRCh38)
1:13697253 (GRCh37)
Canonical SPDI:: NC_000001.11:13370794:G:A
Gene:: PRAMEF19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000214/3 (ALFA)
A=0.000106/28 (TOPMED)
A=0.000114/16 (GnomAD)
A=0.000156/1 (1000Genomes)
A=0.000177/5 (TOMMO)
HGVS:: NC_000001.11:g.13370795G>A, NC_000001.10:g.13697253G>A, NM_001099790.5:c.720C>T, NM_001099790.4:c.720C>T, NM_001099790.3:c.720C>T, NM_001099790.2:c.720C>T, NM_001099790.1:c.720C>T, NM_001099850.1:c.720C>T, NM_001099850.2:c.720T>C, NM_001024659.1:c.513C>T

Select item 14836777457.

rs1483677745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:13370811 (GRCh38)
1:13697269 (GRCh37)
Canonical SPDI:: NC_000001.11:13370810:C:A,NC_000001.11:13370810:C:T
Gene:: PRAMEF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00031/2 (1000Genomes)
HGVS:: NC_000001.11:g.13370811C>A, NC_000001.11:g.13370811C>T, NC_000001.10:g.13697269C>A, NC_000001.10:g.13697269C>T, NM_001099790.5:c.704G>T, NM_001099790.5:c.704G>A, NM_001099790.4:c.704G>T, NM_001099790.4:c.704G>A, NM_001099790.3:c.704G>T, NM_001099790.3:c.704G>A, NM_001099790.2:c.704G>T, NM_001099790.2:c.704G>A, NM_001099790.1:c.704G>T, NM_001099790.1:c.704G>A, NM_001099850.1:c.704G>T, NM_001099850.1:c.704G>A, NM_001099850.2:c.704G>T, NM_001099850.2:c.704G>A, NM_001024659.1:c.497G>T, NM_001024659.1:c.497G>A, NP_001093260.3:p.Arg235Leu, NP_001093260.3:p.Arg235Gln

Select item 14823392568.

rs1482339256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:13370684 (GRCh38)
1:13697142 (GRCh37)
Canonical SPDI:: NC_000001.11:13370683:G:C
Gene:: PRAMEF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.13370684G>C, NC_000001.10:g.13697142G>C, NM_001099790.5:c.831C>G, NM_001099790.4:c.831C>G, NM_001099790.3:c.831C>G, NM_001099790.2:c.831C>G, NM_001099790.1:c.831C>G, NM_001099850.1:c.831C>G, NM_001099850.2:c.831C>G, NM_001024659.1:c.624C>G, NP_001093260.3:p.Ile277Met

Select item 14819762589.

rs1481976258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:13369133 (GRCh38)
1:13695591 (GRCh37)
Canonical SPDI:: NC_000001.11:13369132:A:C,NC_000001.11:13369132:A:T
Gene:: PRAMEF19 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00005/7 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.13369133A>C, NC_000001.11:g.13369133A>T, NC_000001.10:g.13695591A>C, NC_000001.10:g.13695591A>T, NM_001099790.5:c.1374T>G, NM_001099790.5:c.1374T>A, NM_001099790.4:c.1374T>G, NM_001099790.4:c.1374T>A, NM_001099790.3:c.1374T>G, NM_001099790.3:c.1374T>A, NM_001099790.2:c.1374T>G, NM_001099790.2:c.1374T>A, NM_001099790.1:c.1374T>G, NM_001099790.1:c.1374T>A, NM_001099850.1:c.1374T>G, NM_001099850.1:c.1374T>A, NM_001099850.2:c.1374T>G, NM_001099850.2:c.1374T>A, NM_001024659.1:c.1167T>G, NM_001024659.1:c.1167T>A

Select item 148132549810.

rs1481325498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:13371828 (GRCh38)
1:13698286 (GRCh37)
Canonical SPDI:: NC_000001.11:13371827:T:C,NC_000001.11:13371827:T:G
Gene:: PRAMEF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.13371828T>C, NC_000001.11:g.13371828T>G, NC_000001.10:g.13698286T>C, NC_000001.10:g.13698286T>G, NM_001099790.5:c.73A>G, NM_001099790.5:c.73A>C, NM_001099790.4:c.73A>G, NM_001099790.4:c.73A>C, NM_001099790.3:c.73A>G, NM_001099790.3:c.73A>C, NM_001099790.2:c.73A>G, NM_001099790.2:c.73A>C, NM_001099790.1:c.73A>G, NM_001099790.1:c.73A>C, NM_001099850.1:c.73A>G, NM_001099850.1:c.73A>C, NM_001099850.2:c.73A>G, NM_001099850.2:c.73A>C, NM_001024659.1:c.-135A>G, NM_001024659.1:c.-135A>C, NP_001093260.3:p.Ile25Val, NP_001093260.3:p.Ile25Leu

Select item 147710672511.

rs1477106725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:13370942 (GRCh38)
1:13697400 (GRCh37)
Canonical SPDI:: NC_000001.11:13370941:G:A,NC_000001.11:13370941:G:C
Gene:: PRAMEF19 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00016/1 (1000Genomes)
C=0.00018/5 (TOMMO)
C=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.13370942G>A, NC_000001.11:g.13370942G>C, NC_000001.10:g.13697400G>A, NC_000001.10:g.13697400G>C, NM_001099790.5:c.573C>T, NM_001099790.5:c.573C>G, NM_001099790.4:c.573C>T, NM_001099790.4:c.573C>G, NM_001099790.3:c.573C>T, NM_001099790.3:c.573C>G, NM_001099790.2:c.573C>T, NM_001099790.2:c.573C>G, NM_001099790.1:c.573C>T, NM_001099790.1:c.573C>G, NM_001099850.1:c.573C>T, NM_001099850.1:c.573C>G, NM_001099850.2:c.573C>T, NM_001099850.2:c.573C>G, NM_001024659.1:c.366C>T, NM_001024659.1:c.366C>G, NP_001093260.3:p.Asn191Lys

Select item 147701382212.

rs1477013822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13371822 (GRCh38)
1:13698280 (GRCh37)
Canonical SPDI:: NC_000001.11:13371821:C:T
Gene:: PRAMEF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000152/21 (GnomAD)
T=0.000156/1 (1000Genomes)
T=0.000814/23 (TOMMO)
HGVS:: NC_000001.11:g.13371822C>T, NC_000001.10:g.13698280C>T, NM_001099790.5:c.79G>A, NM_001099790.4:c.79G>A, NM_001099790.3:c.79G>A, NM_001099790.2:c.79G>A, NM_001099790.1:c.79G>A, NM_001099850.1:c.79G>A, NM_001099850.2:c.79G>A, NM_001024659.1:c.-129G>A, NP_001093260.3:p.Val27Ile

Select item 147585403013.

rs1475854030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:13369135 (GRCh38)
1:13695593 (GRCh37)
Canonical SPDI:: NC_000001.11:13369134:G:T
Gene:: PRAMEF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000113/30 (TOPMED)
T=0.000114/16 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.13369135G>T, NC_000001.10:g.13695593G>T, NM_001099790.5:c.1372C>A, NM_001099790.4:c.1372C>A, NM_001099790.3:c.1372C>A, NM_001099790.2:c.1372C>A, NM_001099790.1:c.1372C>A, NM_001099850.1:c.1372C>A, NM_001099850.2:c.1372C>A, NM_001024659.1:c.1165C>A, NP_001093260.3:p.Pro458Thr

Select item 147573859914.

rs1475738599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:13369234 (GRCh38)
1:13695692 (GRCh37)
Canonical SPDI:: NC_000001.11:13369233:C:G
Gene:: PRAMEF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.13369234C>G, NC_000001.10:g.13695692C>G, NM_001099790.5:c.1273G>C, NM_001099790.4:c.1273G>C, NM_001099790.3:c.1273G>C, NM_001099790.2:c.1273G>C, NM_001099790.1:c.1273G>C, NM_001099850.1:c.1273G>C, NM_001099850.2:c.1273G>C, NM_001024659.1:c.1066G>C, NP_001093260.3:p.Val425Leu

Select item 147528068415.

rs1475280684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13369223 (GRCh38)
1:13695681 (GRCh37)
Canonical SPDI:: NC_000001.11:13369222:C:T
Gene:: PRAMEF19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000001.11:g.13369223C>T, NC_000001.10:g.13695681C>T, NM_001099790.5:c.1284G>A, NM_001099790.4:c.1284G>A, NM_001099790.3:c.1284G>A, NM_001099790.2:c.1284G>A, NM_001099790.1:c.1284G>A, NM_001099850.1:c.1284G>A, NM_001099850.2:c.1284G>A, NM_001024659.1:c.1077G>A

Select item 147487546716.

rs1474875467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:13369491 (GRCh38)
1:13695949 (GRCh37)
Canonical SPDI:: NC_000001.11:13369490:G:T
Gene:: PRAMEF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000641/9 (ALFA)
T=0.000234/62 (TOPMED)
T=0.000335/47 (GnomAD)
HGVS:: NC_000001.11:g.13369491G>T, NC_000001.10:g.13695949G>T, NM_001099790.5:c.1016C>A, NM_001099790.4:c.1016C>A, NM_001099790.3:c.1016C>A, NM_001099790.2:c.1016C>A, NM_001099790.1:c.1016C>A, NM_001099850.1:c.1016C>A, NM_001099850.2:c.1016C>A, NM_001024659.1:c.809C>A, NP_001093260.3:p.Pro339His

Select item 147376959217.

rs1473769592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:13370697 (GRCh38)
1:13697155 (GRCh37)
Canonical SPDI:: NC_000001.11:13370696:T:C
Gene:: PRAMEF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.13370697T>C, NC_000001.10:g.13697155T>C, NM_001099790.5:c.818A>G, NM_001099790.4:c.818A>G, NM_001099790.3:c.818A>G, NM_001099790.2:c.818A>G, NM_001099790.1:c.818A>G, NM_001099850.1:c.818A>G, NM_001099850.2:c.818A>G, NM_001024659.1:c.611A>G, NP_001093260.3:p.Tyr273Cys

Select item 147312914418.

rs1473129144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13369395 (GRCh38)
1:13695853 (GRCh37)
Canonical SPDI:: NC_000001.11:13369394:G:A
Gene:: PRAMEF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.13369395G>A, NC_000001.10:g.13695853G>A, NM_001099790.5:c.1112C>T, NM_001099790.4:c.1112C>T, NM_001099790.3:c.1112C>T, NM_001099790.2:c.1112C>T, NM_001099790.1:c.1112C>T, NM_001099850.1:c.1112C>T, NM_001099850.2:c.1112C>T, NM_001024659.1:c.905C>T, NP_001093260.3:p.Pro371Leu

Select item 147278759119.

rs1472787591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:13371149 (GRCh38)
1:13697607 (GRCh37)
Canonical SPDI:: NC_000001.11:13371148:C:A,NC_000001.11:13371148:C:G
Gene:: PRAMEF19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.13371149C>A, NC_000001.11:g.13371149C>G, NC_000001.10:g.13697607C>A, NC_000001.10:g.13697607C>G, NM_001099790.5:c.366G>T, NM_001099790.5:c.366G>C, NM_001099790.4:c.366G>T, NM_001099790.4:c.366G>C, NM_001099790.3:c.366G>T, NM_001099790.3:c.366G>C, NM_001099790.2:c.366G>T, NM_001099790.2:c.366G>C, NM_001099790.1:c.366G>T, NM_001099790.1:c.366G>C, NM_001099850.1:c.366G>T, NM_001099850.1:c.366G>C, NM_001099850.2:c.366G>T, NM_001099850.2:c.366G>C, NM_001024659.1:c.159G>T, NM_001024659.1:c.159G>C

Select item 147226679220.

rs1472266792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:13371161 (GRCh38)
1:13697619 (GRCh37)
Canonical SPDI:: NC_000001.11:13371160:T:C
Gene:: PRAMEF19 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.13371161T>C, NC_000001.10:g.13697619T>C, NM_001099790.5:c.354A>G, NM_001099790.4:c.354A>G, NM_001099790.3:c.354A>G, NM_001099790.2:c.354A>G, NM_001099790.1:c.354A>G, NM_001099850.1:c.354A>G, NM_001099850.2:c.354A>G, NM_001024659.1:c.147A>G

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