SNP Links for Protein (Select 38045931) - SNP

Links from Protein

Items: 1 to 20 of 152

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Select item 14787923421.

rs1478792342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:33558740 (GRCh38)
8:33416258 (GRCh37)
Canonical SPDI:: NC_000008.11:33558739:G:A
Gene:: RNF122 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.33558740G>A, NC_000008.10:g.33416258G>A, NM_024787.3:c.57C>T, XM_017013846.2:c.-16C>T, XM_017013846.1:c.-16C>T

Select item 14711618932.

rs1471161893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:33558672 (GRCh38)
8:33416190 (GRCh37)
Canonical SPDI:: NC_000008.11:33558671:A:C
Gene:: RNF122 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.33558672A>C, NC_000008.10:g.33416190A>C, NM_024787.3:c.125T>G, XM_017013846.2:c.53T>G, XM_017013846.1:c.53T>G, NP_079063.2:p.Phe42Cys, XP_016869335.1:p.Phe18Cys

Select item 14693148603.

rs1469314860 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:33558750 (GRCh38)
8:33416268 (GRCh37)
Canonical SPDI:: NC_000008.11:33558749:A:T
Gene:: RNF122 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000008.11:g.33558750A>T, NC_000008.10:g.33416268A>T, NM_024787.3:c.47T>A, XM_017013846.2:c.-26T>A, XM_017013846.1:c.-26T>A, NP_079063.2:p.Leu16Gln

Select item 14606412454.

rs1460641245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:33558641 (GRCh38)
8:33416159 (GRCh37)
Canonical SPDI:: NC_000008.11:33558640:G:A
Gene:: RNF122 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.33558641G>A, NC_000008.10:g.33416159G>A, NM_024787.3:c.156C>T, XM_017013846.2:c.84C>T, XM_017013846.1:c.84C>T

Select item 14575795205.

rs1457579520 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAC>- [Show Flanks]
Chromosome:: 8:33549477 (GRCh38)
8:33406995 (GRCh37)
Canonical SPDI:: NC_000008.11:33549471:CAGACAGAC:CAGAC
Gene:: RNF122 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAGAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.33549473AGAC[1], NC_000008.10:g.33406991AGAC[1], NM_024787.3:c.288_291del, XM_017013846.2:c.216_219del, XM_017013846.1:c.216_219del, NP_079063.2:p.Cys96fs, XP_016869335.1:p.Cys72fs

Select item 14568773676.

rs1456877367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33566704 (GRCh38)
8:33424222 (GRCh37)
Canonical SPDI:: NC_000008.11:33566703:C:T
Gene:: RNF122 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33566704C>T, NC_000008.10:g.33424222C>T, NM_024787.3:c.20G>A, NP_079063.2:p.Cys7Tyr

Select item 14523966407.

rs1452396640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:33558684 (GRCh38)
8:33416202 (GRCh37)
Canonical SPDI:: NC_000008.11:33558683:T:C
Gene:: RNF122 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.33558684T>C, NC_000008.10:g.33416202T>C, NM_024787.3:c.113A>G, XM_017013846.2:c.41A>G, XM_017013846.1:c.41A>G, NP_079063.2:p.Tyr38Cys, XP_016869335.1:p.Tyr14Cys

Select item 14519456608.

rs1451945660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33548795 (GRCh38)
8:33406313 (GRCh37)
Canonical SPDI:: NC_000008.11:33548794:C:T
Gene:: RNF122 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33548795C>T, NC_000008.10:g.33406313C>T, NM_024787.3:c.426G>A, XM_017013846.2:c.354G>A, XM_017013846.1:c.354G>A

Select item 14511775559.

rs1451177555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:33551354 (GRCh38)
8:33408872 (GRCh37)
Canonical SPDI:: NC_000008.11:33551353:C:A
Gene:: RNF122 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33551354C>A, NC_000008.10:g.33408872C>A, NM_024787.3:c.218G>T, XM_017013846.2:c.146G>T, XM_017013846.1:c.146G>T, NP_079063.2:p.Gly73Val, XP_016869335.1:p.Gly49Val

Select item 142824664810.

rs1428246648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:33551079 (GRCh38)
8:33408597 (GRCh37)
Canonical SPDI:: NC_000008.11:33551078:G:A
Gene:: RNF122 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33551079G>A, NC_000008.10:g.33408597G>A, NM_024787.3:c.235C>T, XM_017013846.2:c.163C>T, XM_017013846.1:c.163C>T, NP_079063.2:p.Leu79Phe, XP_016869335.1:p.Leu55Phe

Select item 141524666911.

rs1415246669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33558754 (GRCh38)
8:33416272 (GRCh37)
Canonical SPDI:: NC_000008.11:33558753:C:T
Gene:: RNF122 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.33558754C>T, NC_000008.10:g.33416272C>T, NM_024787.3:c.43G>A, XM_017013846.2:c.-30G>A, XM_017013846.1:c.-30G>A, NP_079063.2:p.Gly15Arg

Select item 140453013612.

rs1404530136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33558753 (GRCh38)
8:33416271 (GRCh37)
Canonical SPDI:: NC_000008.11:33558752:C:T
Gene:: RNF122 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33558753C>T, NC_000008.10:g.33416271C>T, NM_024787.3:c.44G>A, XM_017013846.2:c.-29G>A, XM_017013846.1:c.-29G>A, NP_079063.2:p.Gly15Glu

Select item 140293660813.

rs1402936608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:33558749 (GRCh38)
8:33416267 (GRCh37)
Canonical SPDI:: NC_000008.11:33558748:C:A
Gene:: RNF122 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.33558749C>A, NC_000008.10:g.33416267C>A, NM_024787.3:c.48G>T, XM_017013846.2:c.-25G>T, XM_017013846.1:c.-25G>T

Select item 140243969214.

rs1402439692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:33558771 (GRCh38)
8:33416289 (GRCh37)
Canonical SPDI:: NC_000008.11:33558770:C:A
Gene:: RNF122 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000008.11:g.33558771C>A, NC_000008.10:g.33416289C>A, NM_024787.3:c.26G>T, XM_017013846.2:c.-47G>T, XM_017013846.1:c.-47G>T, NP_079063.2:p.Gly9Val

Select item 139200297615.

rs1392002976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:33549481 (GRCh38)
8:33406999 (GRCh37)
Canonical SPDI:: NC_000008.11:33549480:T:G
Gene:: RNF122 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33549481T>G, NC_000008.10:g.33406999T>G, NM_024787.3:c.282A>C, XM_017013846.2:c.210A>C, XM_017013846.1:c.210A>C

Select item 138946908016.

rs1389469080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33551083 (GRCh38)
8:33408601 (GRCh37)
Canonical SPDI:: NC_000008.11:33551082:C:T
Gene:: RNF122 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.33551083C>T, NC_000008.10:g.33408601C>T, NM_024787.3:c.231G>A, XM_017013846.2:c.159G>A, XM_017013846.1:c.159G>A

Select item 138665255917.

rs1386652559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:33548777 (GRCh38)
8:33406295 (GRCh37)
Canonical SPDI:: NC_000008.11:33548776:C:T
Gene:: RNF122 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33548777C>T, NC_000008.10:g.33406295C>T, NM_024787.3:c.444G>A, XM_017013846.2:c.372G>A, XM_017013846.1:c.372G>A

Select item 138517876618.

rs1385178766 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:33548809 (GRCh38)
8:33406328 (GRCh37)
Canonical SPDI:: NC_000008.11:33548809::T
Gene:: RNF122 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.33548809_33548810insT, NC_000008.10:g.33406327_33406328insT, NM_024787.3:c.411_412insA, XM_017013846.2:c.339_340insA, XM_017013846.1:c.339_340insA, NP_079063.2:p.Ala138fs, XP_016869335.1:p.Ala114fs

Select item 137873365719.

rs1378733657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:33566718 (GRCh38)
8:33424236 (GRCh37)
Canonical SPDI:: NC_000008.11:33566717:G:A,NC_000008.11:33566717:G:C
Gene:: RNF122 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.33566718G>A, NC_000008.11:g.33566718G>C, NC_000008.10:g.33424236G>A, NC_000008.10:g.33424236G>C, NM_024787.3:c.6C>T, NM_024787.3:c.6C>G, NP_079063.2:p.His2Gln

Select item 135578127520.

rs1355781275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:33558686 (GRCh38)
8:33416204 (GRCh37)
Canonical SPDI:: NC_000008.11:33558685:G:C
Gene:: RNF122 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.33558686G>C, NC_000008.10:g.33416204G>C, NM_024787.3:c.111C>G, XM_017013846.2:c.39C>G, XM_017013846.1:c.39C>G, NP_079063.2:p.Ile37Met, XP_016869335.1:p.Ile13Met

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