SNP Links for Protein (Select 48675811) - SNP

Links from Protein

Items: 1 to 20 of 338

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Select item 14875011421.

rs1487501142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:13153223 (GRCh38)
19:13264037 (GRCh37)
Canonical SPDI:: NC_000019.10:13153222:C:A
Gene:: IER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.13153223C>A, NC_000019.9:g.13264037C>A, NM_004907.3:c.37C>A, NM_004907.2:c.37C>A, NP_004898.2:p.Leu13Met

Select item 14871888542.

rs1487188854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13153544 (GRCh38)
19:13264358 (GRCh37)
Canonical SPDI:: NC_000019.10:13153543:C:T
Gene:: IER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.13153544C>T, NC_000019.9:g.13264358C>T, NM_004907.3:c.358C>T, NM_004907.2:c.358C>T, NP_004898.2:p.Arg120Cys

Select item 14847493983.

rs1484749398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13153771 (GRCh38)
19:13264585 (GRCh37)
Canonical SPDI:: NC_000019.10:13153770:G:A
Gene:: IER2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.13153771G>A, NC_000019.9:g.13264585G>A, NM_004907.3:c.585G>A, NM_004907.2:c.585G>A

Select item 14840647804.

rs1484064780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13153570 (GRCh38)
19:13264384 (GRCh37)
Canonical SPDI:: NC_000019.10:13153569:C:T
Gene:: IER2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13153570C>T, NC_000019.9:g.13264384C>T, NM_004907.3:c.384C>T, NM_004907.2:c.384C>T

Select item 14837556455.

rs1483755645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:13153628 (GRCh38)
19:13264442 (GRCh37)
Canonical SPDI:: NC_000019.10:13153627:G:A,NC_000019.10:13153627:G:C
Gene:: IER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.13153628G>A, NC_000019.10:g.13153628G>C, NC_000019.9:g.13264442G>A, NC_000019.9:g.13264442G>C, NM_004907.3:c.442G>A, NM_004907.3:c.442G>C, NM_004907.2:c.442G>A, NM_004907.2:c.442G>C, NP_004898.2:p.Glu148Lys, NP_004898.2:p.Glu148Gln

Select item 14824948356.

rs1482494835 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:13153221 (GRCh38)
19:13264035 (GRCh37)
Canonical SPDI:: NC_000019.10:13153220:CCC:CC
Gene:: IER2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.13153223del, NC_000019.9:g.13264037del, NM_004907.3:c.37del, NM_004907.2:c.37del, NP_004898.2:p.Leu13fs

Select item 14824798017.

rs1482479801 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:13153465 (GRCh38)
19:13264279 (GRCh37)
Canonical SPDI:: NC_000019.10:13153464:GG:G
Gene:: IER2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.13153466del, NC_000019.9:g.13264280del, NM_004907.3:c.280del, NM_004907.2:c.280del, NP_004898.2:p.Glu94fs

Select item 14803004318.

rs1480300431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:13153627 (GRCh38)
19:13264441 (GRCh37)
Canonical SPDI:: NC_000019.10:13153626:A:G,NC_000019.10:13153626:A:T
Gene:: IER2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.13153627A>G, NC_000019.10:g.13153627A>T, NC_000019.9:g.13264441A>G, NC_000019.9:g.13264441A>T, NM_004907.3:c.441A>G, NM_004907.3:c.441A>T, NM_004907.2:c.441A>G, NM_004907.2:c.441A>T, NP_004898.2:p.Glu147Asp

Select item 14758046859.

rs1475804685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13153281 (GRCh38)
19:13264095 (GRCh37)
Canonical SPDI:: NC_000019.10:13153280:G:A
Gene:: IER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.13153281G>A, NC_000019.9:g.13264095G>A, NM_004907.3:c.95G>A, NM_004907.2:c.95G>A, NP_004898.2:p.Arg32Gln

Select item 147524244110.

rs1475242441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13153296 (GRCh38)
19:13264110 (GRCh37)
Canonical SPDI:: NC_000019.10:13153295:C:T
Gene:: IER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000019.10:g.13153296C>T, NC_000019.9:g.13264110C>T, NM_004907.3:c.110C>T, NM_004907.2:c.110C>T, NP_004898.2:p.Ser37Leu

Select item 147423255811.

rs1474232558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:13153736 (GRCh38)
19:13264550 (GRCh37)
Canonical SPDI:: NC_000019.10:13153735:G:C
Gene:: IER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13153736G>C, NC_000019.9:g.13264550G>C, NM_004907.3:c.550G>C, NM_004907.2:c.550G>C, NP_004898.2:p.Gly184Arg

Select item 147191919512.

rs1471919195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13153348 (GRCh38)
19:13264162 (GRCh37)
Canonical SPDI:: NC_000019.10:13153347:C:T
Gene:: IER2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.13153348C>T, NC_000019.9:g.13264162C>T, NM_004907.3:c.162C>T, NM_004907.2:c.162C>T

Select item 146791242013.

rs1467912420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13153842 (GRCh38)
19:13264656 (GRCh37)
Canonical SPDI:: NC_000019.10:13153841:C:T
Gene:: IER2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.13153842C>T, NC_000019.9:g.13264656C>T, NM_004907.3:c.656C>T, NM_004907.2:c.656C>T, NP_004898.2:p.Ala219Val

Select item 146494772914.

rs1464947729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13153418 (GRCh38)
19:13264232 (GRCh37)
Canonical SPDI:: NC_000019.10:13153417:G:A
Gene:: IER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.13153418G>A, NC_000019.9:g.13264232G>A, NM_004907.3:c.232G>A, NM_004907.2:c.232G>A, NP_004898.2:p.Glu78Lys

Select item 146149095315.

rs1461490953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:13153647 (GRCh38)
19:13264461 (GRCh37)
Canonical SPDI:: NC_000019.10:13153646:C:G,NC_000019.10:13153646:C:T
Gene:: IER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.13153647C>G, NC_000019.10:g.13153647C>T, NC_000019.9:g.13264461C>G, NC_000019.9:g.13264461C>T, NM_004907.3:c.461C>G, NM_004907.3:c.461C>T, NM_004907.2:c.461C>G, NM_004907.2:c.461C>T, NP_004898.2:p.Ser154Cys, NP_004898.2:p.Ser154Phe

Select item 145925514516.

rs1459255145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13153309 (GRCh38)
19:13264123 (GRCh37)
Canonical SPDI:: NC_000019.10:13153308:C:T
Gene:: IER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13153309C>T, NC_000019.9:g.13264123C>T, NM_004907.3:c.123C>T, NM_004907.2:c.123C>T

Select item 145770189017.

rs1457701890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13153494 (GRCh38)
19:13264308 (GRCh37)
Canonical SPDI:: NC_000019.10:13153493:C:T
Gene:: IER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13153494C>T, NC_000019.9:g.13264308C>T, NM_004907.3:c.308C>T, NM_004907.2:c.308C>T, NP_004898.2:p.Thr103Ile

Select item 145275404818.

rs1452754048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:13153429 (GRCh38)
19:13264243 (GRCh37)
Canonical SPDI:: NC_000019.10:13153428:C:G
Gene:: IER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000019.10:g.13153429C>G, NC_000019.9:g.13264243C>G, NM_004907.3:c.243C>G, NM_004907.2:c.243C>G

Select item 145233482919.

rs1452334829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13153616 (GRCh38)
19:13264430 (GRCh37)
Canonical SPDI:: NC_000019.10:13153615:G:A
Gene:: IER2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.13153616G>A, NC_000019.9:g.13264430G>A, NM_004907.3:c.430G>A, NM_004907.2:c.430G>A, NP_004898.2:p.Glu144Lys

Select item 145069252720.

rs1450692527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13153351 (GRCh38)
19:13264165 (GRCh37)
Canonical SPDI:: NC_000019.10:13153350:C:T
Gene:: IER2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.13153351C>T, NC_000019.9:g.13264165C>T, NM_004907.3:c.165C>T, NM_004907.2:c.165C>T

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