SNP Links for Protein (Select 15431301) - SNP

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Links from Protein

Items: 1 to 20 of 211

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Select item 14881219291.

rs1488121929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:73291815 (GRCh38)
8:74204050 (GRCh37)
Canonical SPDI:: NC_000008.11:73291814:G:A
Gene:: RPL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000049/2 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.73291815G>A, NC_000008.10:g.74204050G>A, NM_000971.4:c.386C>T, NM_000971.3:c.386C>T, NM_001363737.2:c.266C>T, NM_001363737.1:c.266C>T, NP_000962.2:p.Ser129Leu, NP_001350666.1:p.Ser89Leu

Select item 14823400342.

rs1482340034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:73291864 (GRCh38)
8:74204099 (GRCh37)
Canonical SPDI:: NC_000008.11:73291863:G:A
Gene:: RPL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000008.11:g.73291864G>A, NC_000008.10:g.74204099G>A, NM_000971.4:c.337C>T, NM_000971.3:c.337C>T, NM_001363737.2:c.217C>T, NM_001363737.1:c.217C>T, NP_000962.2:p.Arg113Cys, NP_001350666.1:p.Arg73Cys

Select item 14758640913.

rs1475864091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:73292340 (GRCh38)
8:74204575 (GRCh37)
Canonical SPDI:: NC_000008.11:73292339:C:A
Gene:: RPL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.73292340C>A, NC_000008.10:g.74204575C>A, NM_000971.4:c.189G>T, NM_000971.3:c.189G>T, NM_001363737.2:c.69G>T, NM_001363737.1:c.69G>T, NP_000962.2:p.Gln63His, NP_001350666.1:p.Gln23His

Select item 14735578724.

rs1473557872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:73291145 (GRCh38)
8:74203380 (GRCh37)
Canonical SPDI:: NC_000008.11:73291144:G:A
Gene:: RPL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.73291145G>A, NC_000008.10:g.74203380G>A, NM_000971.4:c.646C>T, NM_000971.3:c.646C>T, NM_001363737.2:c.526C>T, NM_001363737.1:c.526C>T, NP_000962.2:p.Pro216Ser, NP_001350666.1:p.Pro176Ser

Select item 14726945955.

rs1472694595 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:73292324 (GRCh38)
8:74204559 (GRCh37)
Canonical SPDI:: NC_000008.11:73292323:T:C
Gene:: RPL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.73292324T>C, NC_000008.10:g.74204559T>C, NM_000971.4:c.205A>G, NM_000971.3:c.205A>G, NM_001363737.2:c.85A>G, NM_001363737.1:c.85A>G, NP_000962.2:p.Ile69Val, NP_001350666.1:p.Ile29Val

Select item 14684914376.

rs1468491437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:73291068 (GRCh38)
8:74203303 (GRCh37)
Canonical SPDI:: NC_000008.11:73291067:G:A
Gene:: RPL7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.73291068G>A, NC_000008.10:g.74203303G>A, NM_000971.4:c.723C>T, NM_000971.3:c.723C>T, NM_001363737.2:c.603C>T, NM_001363737.1:c.603C>T

Select item 14657197437.

rs1465719743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:73291045 (GRCh38)
8:74203280 (GRCh37)
Canonical SPDI:: NC_000008.11:73291044:T:C
Gene:: RPL7 (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.73291045T>C, NC_000008.10:g.74203280T>C, NM_000971.4:c.746A>G, NM_000971.3:c.746A>G, NM_001363737.2:c.626A>G, NM_001363737.1:c.626A>G

Select item 14653460978.

rs1465346097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:73291617 (GRCh38)
8:74203852 (GRCh37)
Canonical SPDI:: NC_000008.11:73291616:C:G
Gene:: RPL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.73291617C>G, NC_000008.10:g.74203852C>G, NM_000971.4:c.473G>C, NM_000971.3:c.473G>C, NM_001363737.2:c.353G>C, NM_001363737.1:c.353G>C, NP_000962.2:p.Gly158Ala, NP_001350666.1:p.Gly118Ala

Select item 14625856669.

rs1462585666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:73292260 (GRCh38)
8:74204495 (GRCh37)
Canonical SPDI:: NC_000008.11:73292259:G:A
Gene:: RPL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.73292260G>A, NC_000008.10:g.74204495G>A, NM_000971.4:c.269C>T, NM_000971.3:c.269C>T, NM_001363737.2:c.149C>T, NM_001363737.1:c.149C>T, NP_000962.2:p.Ala90Val, NP_001350666.1:p.Ala50Val

Select item 145596810510.

rs1455968105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:73291626 (GRCh38)
8:74203861 (GRCh37)
Canonical SPDI:: NC_000008.11:73291625:T:C
Gene:: RPL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.73291626T>C, NC_000008.10:g.74203861T>C, NM_000971.4:c.464A>G, NM_000971.3:c.464A>G, NM_001363737.2:c.344A>G, NM_001363737.1:c.344A>G, NP_000962.2:p.Tyr155Cys, NP_001350666.1:p.Tyr115Cys

Select item 145469580511.

rs1454695805 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:73291607 (GRCh38)
8:74203842 (GRCh37)
Canonical SPDI:: NC_000008.11:73291606:T:C
Gene:: RPL7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000008.11:g.73291607T>C, NC_000008.10:g.74203842T>C, NM_000971.4:c.483A>G, NM_000971.3:c.483A>G, NM_001363737.2:c.363A>G, NM_001363737.1:c.363A>G

Select item 145242255412.

rs1452422554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:73293600 (GRCh38)
8:74205835 (GRCh37)
Canonical SPDI:: NC_000008.11:73293599:C:G
Gene:: RPL7 (Varview), RDH10 (Varview)
Functional Consequence:: intron_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.73293600C>G, NC_000008.10:g.74205835C>G, NM_000971.4:c.13G>C, NM_000971.3:c.13G>C, NP_000962.2:p.Glu5Gln

Select item 143689963713.

rs1436899637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:73291852 (GRCh38)
8:74204087 (GRCh37)
Canonical SPDI:: NC_000008.11:73291851:T:C
Gene:: RPL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.73291852T>C, NC_000008.10:g.74204087T>C, NM_000971.4:c.349A>G, NM_000971.3:c.349A>G, NM_001363737.2:c.229A>G, NM_001363737.1:c.229A>G, NP_000962.2:p.Ile117Val, NP_001350666.1:p.Ile77Val

Select item 143154680414.

rs1431546804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:73291834 (GRCh38)
8:74204069 (GRCh37)
Canonical SPDI:: NC_000008.11:73291833:C:T
Gene:: RPL7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.73291834C>T, NC_000008.10:g.74204069C>T, NM_000971.4:c.367G>A, NM_000971.3:c.367G>A, NM_001363737.2:c.247G>A, NM_001363737.1:c.247G>A, NP_000962.2:p.Val123Met, NP_001350666.1:p.Val83Met

Select item 142728422915.

rs1427284229 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:73293608 (GRCh38)
8:74205843 (GRCh37)
Canonical SPDI:: NC_000008.11:73293607:T:G
Gene:: RPL7 (Varview), RDH10 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.73293608T>G, NC_000008.10:g.74205843T>G, NM_000971.4:c.5A>C, NM_000971.3:c.5A>C, NP_000962.2:p.Glu2Ala

Select item 142250050616.

rs1422500506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:73291161 (GRCh38)
8:74203396 (GRCh37)
Canonical SPDI:: NC_000008.11:73291160:G:A
Gene:: RPL7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.73291161G>A, NC_000008.10:g.74203396G>A, NM_000971.4:c.630C>T, NM_000971.3:c.630C>T, NM_001363737.2:c.510C>T, NM_001363737.1:c.510C>T

Select item 142165800217.

rs1421658002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:73291891 (GRCh38)
8:74204126 (GRCh37)
Canonical SPDI:: NC_000008.11:73291890:T:C
Gene:: RPL7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.73291891T>C, NC_000008.10:g.74204126T>C, NM_000971.4:c.310A>G, NM_000971.3:c.310A>G, NM_001363737.2:c.190A>G, NM_001363737.1:c.190A>G, NP_000962.2:p.Lys104Glu, NP_001350666.1:p.Lys64Glu

Select item 142059592318.

rs1420595923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:73291655 (GRCh38)
8:74203890 (GRCh37)
Canonical SPDI:: NC_000008.11:73291654:G:A
Gene:: RPL7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.73291655G>A, NC_000008.10:g.74203890G>A, NM_000971.4:c.435C>T, NM_000971.3:c.435C>T, NM_001363737.2:c.315C>T, NM_001363737.1:c.315C>T