SNP Links for Protein (Select 45504357) - SNP

Links from Protein

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Select item 14755283941.

rs1475528394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30931740 (GRCh38)
6:30899517 (GRCh37)
Canonical SPDI:: NC_000006.12:30931739:G:A
Gene:: SFTA2 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30931740G>A, NC_000006.11:g.30899517G>A, NT_113891.3:g.2411334G>A, NT_113891.2:g.2411440G>A, NT_167248.2:g.2186892G>A, NT_167248.1:g.2192488G>A, NT_167245.2:g.2188042G>A, NT_167245.1:g.2193627G>A, NT_167246.2:g.2241978G>A, NT_167246.1:g.2247598G>A, NT_167247.2:g.2275871G>A, NT_167247.1:g.2281456G>A, NM_205854.3:c.117C>T, NM_205854.2:c.117C>T

Select item 14632607342.

rs1463260734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30931773 (GRCh38)
6:30899550 (GRCh37)
Canonical SPDI:: NC_000006.12:30931772:C:T
Gene:: SFTA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30931773C>T, NC_000006.11:g.30899550C>T, NT_113891.3:g.2411367C>T, NT_113891.2:g.2411473C>T, NT_167248.2:g.2186925C>T, NT_167248.1:g.2192521C>T, NT_167245.2:g.2188075C>T, NT_167245.1:g.2193660C>T, NT_167246.2:g.2242011C>T, NT_167246.1:g.2247631C>T, NT_167247.2:g.2275904C>T, NT_167247.1:g.2281489C>T, NM_205854.3:c.84G>A, NM_205854.2:c.84G>A

Select item 14591837793.

rs1459183779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:30931504 (GRCh38)
6:30899281 (GRCh37)
Canonical SPDI:: NC_000006.12:30931503:A:G
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30931504A>G, NC_000006.11:g.30899281A>G, NT_113891.3:g.2411098A>G, NT_113891.2:g.2411204A>G, NT_167248.2:g.2186656A>G, NT_167248.1:g.2192252A>G, NT_167245.2:g.2187806A>G, NT_167245.1:g.2193391A>G, NT_167246.2:g.2241742A>G, NT_167246.1:g.2247362A>G, NT_167247.2:g.2275635A>G, NT_167247.1:g.2281220A>G, NM_205854.3:c.221T>C, NM_205854.2:c.221T>C, NP_995326.1:p.Val74Ala

Select item 14294541194.

rs1429454119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30931566 (GRCh38)
6:30899343 (GRCh37)
Canonical SPDI:: NC_000006.12:30931565:G:A
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30931566G>A, NC_000006.11:g.30899343G>A, NT_113891.3:g.2411160G>A, NT_113891.2:g.2411266G>A, NT_167248.2:g.2186718G>A, NT_167248.1:g.2192314G>A, NT_167245.2:g.2187868G>A, NT_167245.1:g.2193453G>A, NT_167246.2:g.2241804G>A, NT_167246.1:g.2247424G>A, NT_167247.2:g.2275697G>A, NT_167247.1:g.2281282G>A, NM_205854.3:c.159C>T, NM_205854.2:c.159C>T

Select item 14134907995.

rs1413490799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30931488 (GRCh38)
6:30899265 (GRCh37)
Canonical SPDI:: NC_000006.12:30931487:T:C
Gene:: SFTA2 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant
HGVS:: NC_000006.12:g.30931488T>C, NC_000006.11:g.30899265T>C, NT_113891.3:g.2411082T>C, NT_113891.2:g.2411188T>C, NT_167248.2:g.2186640T>C, NT_167248.1:g.2192236T>C, NT_167245.2:g.2187790T>C, NT_167245.1:g.2193375T>C, NT_167246.2:g.2241726T>C, NT_167246.1:g.2247346T>C, NT_167247.2:g.2275619T>C, NT_167247.1:g.2281204T>C, NM_205854.3:c.237A>G, NM_205854.2:c.237A>G, NP_995326.1:p.Ter79Trp

Select item 14054529596.

rs1405452959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30932061 (GRCh38)
6:30899838 (GRCh37)
Canonical SPDI:: NC_000006.12:30932060:G:A
Gene:: SFTA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30932061G>A, NC_000006.11:g.30899838G>A, NT_113891.3:g.2411655G>A, NT_113891.2:g.2411761G>A, NT_167248.2:g.2187213G>A, NT_167248.1:g.2192809G>A, NT_167245.2:g.2188363G>A, NT_167245.1:g.2193948G>A, NT_167246.2:g.2242299G>A, NT_167246.1:g.2247919G>A, NT_167247.2:g.2276192G>A, NT_167247.1:g.2281777G>A, NM_205854.3:c.36C>T, NM_205854.2:c.36C>T

Select item 14050640307.

rs1405064030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30932045 (GRCh38)
6:30899822 (GRCh37)
Canonical SPDI:: NC_000006.12:30932044:G:A
Gene:: SFTA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.30932045G>A, NC_000006.11:g.30899822G>A, NT_113891.3:g.2411639G>A, NT_113891.2:g.2411745G>A, NT_167248.2:g.2187197G>A, NT_167248.1:g.2192793G>A, NT_167245.2:g.2188347G>A, NT_167245.1:g.2193932G>A, NT_167246.2:g.2242283G>A, NT_167246.1:g.2247903G>A, NT_167247.2:g.2276176G>A, NT_167247.1:g.2281761G>A, NM_205854.3:c.52C>T, NM_205854.2:c.52C>T, NP_995326.1:p.His18Tyr

Select item 13989131658.

rs1398913165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30932072 (GRCh38)
6:30899849 (GRCh37)
Canonical SPDI:: NC_000006.12:30932071:G:A
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30932072G>A, NC_000006.11:g.30899849G>A, NT_113891.3:g.2411666G>A, NT_113891.2:g.2411772G>A, NT_167248.2:g.2187224G>A, NT_167248.1:g.2192820G>A, NT_167245.2:g.2188374G>A, NT_167245.1:g.2193959G>A, NT_167246.2:g.2242310G>A, NT_167246.1:g.2247930G>A, NT_167247.2:g.2276203G>A, NT_167247.1:g.2281788G>A, NM_205854.3:c.25C>T, NM_205854.2:c.25C>T, NP_995326.1:p.Leu9Phe

Select item 13977927739.

rs1397792773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:30932049 (GRCh38)
6:30899826 (GRCh37)
Canonical SPDI:: NC_000006.12:30932048:G:T
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30932049G>T, NC_000006.11:g.30899826G>T, NT_113891.3:g.2411643G>T, NT_113891.2:g.2411749G>T, NT_167248.2:g.2187201G>T, NT_167248.1:g.2192797G>T, NT_167245.2:g.2188351G>T, NT_167245.1:g.2193936G>T, NT_167246.2:g.2242287G>T, NT_167246.1:g.2247907G>T, NT_167247.2:g.2276180G>T, NT_167247.1:g.2281765G>T, NM_205854.3:c.48C>A, NM_205854.2:c.48C>A, NP_995326.1:p.Ser16Arg

Select item 137287996210.

rs1372879962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30931569 (GRCh38)
6:30899346 (GRCh37)
Canonical SPDI:: NC_000006.12:30931568:G:A
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.30931569G>A, NC_000006.11:g.30899346G>A, NT_113891.3:g.2411163G>A, NT_113891.2:g.2411269G>A, NT_167248.2:g.2186721G>A, NT_167248.1:g.2192317G>A, NT_167245.2:g.2187871G>A, NT_167245.1:g.2193456G>A, NT_167246.2:g.2241807G>A, NT_167246.1:g.2247427G>A, NT_167247.2:g.2275700G>A, NT_167247.1:g.2281285G>A, NM_205854.3:c.156C>T, NM_205854.2:c.156C>T

Select item 133929219411.

rs1339292194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30931550 (GRCh38)
6:30899327 (GRCh37)
Canonical SPDI:: NC_000006.12:30931549:A:C
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.30931550A>C, NC_000006.11:g.30899327A>C, NT_113891.3:g.2411144A>C, NT_113891.2:g.2411250A>C, NT_167248.2:g.2186702A>C, NT_167248.1:g.2192298A>C, NT_167245.2:g.2187852A>C, NT_167245.1:g.2193437A>C, NT_167246.2:g.2241788A>C, NT_167246.1:g.2247408A>C, NT_167247.2:g.2275681A>C, NT_167247.1:g.2281266A>C, NM_205854.3:c.175T>G, NM_205854.2:c.175T>G, NP_995326.1:p.Ser59Ala

Select item 132513629112.

rs1325136291 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:30931719 (GRCh38)
6:30899496 (GRCh37)
Canonical SPDI:: NC_000006.12:30931718:T:C
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.30931719T>C, NC_000006.11:g.30899496T>C, NT_113891.3:g.2411313T>C, NT_113891.2:g.2411419T>C, NT_167248.2:g.2186871T>C, NT_167248.1:g.2192467T>C, NT_167245.2:g.2188021T>C, NT_167245.1:g.2193606T>C, NT_167246.2:g.2241957T>C, NT_167246.1:g.2247577T>C, NT_167247.2:g.2275850T>C, NT_167247.1:g.2281435T>C, NM_205854.3:c.138A>G, NM_205854.2:c.138A>G

Select item 131209709613.

rs1312097096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:30931523 (GRCh38)
6:30899300 (GRCh37)
Canonical SPDI:: NC_000006.12:30931522:C:G
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.30931523C>G, NC_000006.11:g.30899300C>G, NT_113891.3:g.2411117C>G, NT_113891.2:g.2411223C>G, NT_167248.2:g.2186675C>G, NT_167248.1:g.2192271C>G, NT_167245.2:g.2187825C>G, NT_167245.1:g.2193410C>G, NT_167246.2:g.2241761C>G, NT_167246.1:g.2247381C>G, NT_167247.2:g.2275654C>G, NT_167247.1:g.2281239C>G, NM_205854.3:c.202G>C, NM_205854.2:c.202G>C, NP_995326.1:p.Ala68Pro

Select item 130729731114.

rs1307297311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:30932063 (GRCh38)
6:30899840 (GRCh37)
Canonical SPDI:: NC_000006.12:30932062:T:A
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30932063T>A, NC_000006.11:g.30899840T>A, NT_113891.3:g.2411657T>A, NT_113891.2:g.2411763T>A, NT_167248.2:g.2187215T>A, NT_167248.1:g.2192811T>A, NT_167245.2:g.2188365T>A, NT_167245.1:g.2193950T>A, NT_167246.2:g.2242301T>A, NT_167246.1:g.2247921T>A, NT_167247.2:g.2276194T>A, NT_167247.1:g.2281779T>A, NM_205854.3:c.34A>T, NM_205854.2:c.34A>T, NP_995326.1:p.Thr12Ser

Select item 129903913215.

rs1299039132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30931736 (GRCh38)
6:30899513 (GRCh37)
Canonical SPDI:: NC_000006.12:30931735:C:T
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.30931736C>T, NC_000006.11:g.30899513C>T, NT_113891.3:g.2411330C>T, NT_113891.2:g.2411436C>T, NT_167248.2:g.2186888C>T, NT_167248.1:g.2192484C>T, NT_167245.2:g.2188038C>T, NT_167245.1:g.2193623C>T, NT_167246.2:g.2241974C>T, NT_167246.1:g.2247594C>T, NT_167247.2:g.2275867C>T, NT_167247.1:g.2281452C>T, NM_205854.3:c.121G>A, NM_205854.2:c.121G>A, NP_995326.1:p.Glu41Lys

Select item 129564152516.

rs1295641525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:30931505 (GRCh38)
6:30899282 (GRCh37)
Canonical SPDI:: NC_000006.12:30931504:C:T
Gene:: SFTA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.30931505C>T, NC_000006.11:g.30899282C>T, NT_113891.3:g.2411099C>T, NT_113891.2:g.2411205C>T, NT_167248.2:g.2186657C>T, NT_167248.1:g.2192253C>T, NT_167245.2:g.2187807C>T, NT_167245.1:g.2193392C>T, NT_167246.2:g.2241743C>T, NT_167246.1:g.2247363C>T, NT_167247.2:g.2275636C>T, NT_167247.1:g.2281221C>T, NM_205854.3:c.220G>A, NM_205854.2:c.220G>A, NP_995326.1:p.Val74Ile

Select item 126701751017.

rs1267017510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:30931765 (GRCh38)
6:30899542 (GRCh37)
Canonical SPDI:: NC_000006.12:30931764:T:C,NC_000006.12:30931764:T:G
Gene:: SFTA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.30931765T>C, NC_000006.12:g.30931765T>G, NC_000006.11:g.30899542T>C, NC_000006.11:g.30899542T>G, NT_113891.3:g.2411359T>C, NT_113891.3:g.2411359T>G, NT_113891.2:g.2411465T>C, NT_113891.2:g.2411465T>G, NT_167248.2:g.2186917T>C, NT_167248.2:g.2186917T>G, NT_167248.1:g.2192513T>C, NT_167248.1:g.2192513T>G, NT_167245.2:g.2188067T>C, NT_167245.2:g.2188067T>G, NT_167245.1:g.2193652T>C, NT_167245.1:g.2193652T>G, NT_167246.2:g.2242003T>C, NT_167246.2:g.2242003T>G, NT_167246.1:g.2247623T>C, NT_167246.1:g.2247623T>G, NT_167247.2:g.2275896T>C, NT_167247.2:g.2275896T>G, NT_167247.1:g.2281481T>C, NT_167247.1:g.2281481T>G, NM_205854.3:c.92A>G, NM_205854.3:c.92A>C, NM_205854.2:c.92A>G, NM_205854.2:c.92A>C, NP_995326.1:p.Lys31Arg, NP_995326.1:p.Lys31Thr

Select item 124416493618.

rs1244164936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:30931778 (GRCh38)
6:30899555 (GRCh37)
Canonical SPDI:: NC_000006.12:30931777:G:A
Gene:: SFTA2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000036/5 (GnomAD)
A=0.000057/15 (TOPMED)
HGVS:: NC_000006.12:g.30931778G>A, NC_000006.11:g.30899555G>A, NT_113891.3:g.2411372G>A, NT_113891.2:g.2411478G>A, NT_167248.2:g.2186930G>A, NT_167248.1:g.2192526G>A, NT_167245.2:g.2188080G>A, NT_167245.1:g.2193665G>A, NT_167246.2:g.2242016G>A, NT_167246.1:g.2247636G>A, NT_167247.2:g.2275909G>A, NT_167247.1:g.2281494G>A, NM_205854.3:c.79C>T, NM_205854.2:c.79C>T, NP_995326.1:p.Gln27Ter

Select item 122434983719.

rs1224349837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30931517 (GRCh38)
6:30899294 (GRCh37)
Canonical SPDI:: NC_000006.12:30931516:A:C
Gene:: SFTA2 (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_000006.12:g.30931517A>C, NC_000006.11:g.30899294A>C, NT_113891.3:g.2411111A>C, NT_113891.2:g.2411217A>C, NT_167248.2:g.2186669A>C, NT_167248.1:g.2192265A>C, NT_167245.2:g.2187819A>C, NT_167245.1:g.2193404A>C, NT_167246.2:g.2241755A>C, NT_167246.1:g.2247375A>C, NT_167247.2:g.2275648A>C, NT_167247.1:g.2281233A>C, NM_205854.3:c.208T>G, NM_205854.2:c.208T>G, NP_995326.1:p.Ser70Ala

Select item 121869789320.

rs1218697893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:30931760 (GRCh38)
6:30899537 (GRCh37)
Canonical SPDI:: NC_000006.12:30931759:A:C
Gene:: SFTA2 (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_000006.12:g.30931760A>C, NC_000006.11:g.30899537A>C, NT_113891.3:g.2411354A>C, NT_113891.2:g.2411460A>C, NT_167248.2:g.2186912A>C, NT_167248.1:g.2192508A>C, NT_167245.2:g.2188062A>C, NT_167245.1:g.2193647A>C, NT_167246.2:g.2241998A>C, NT_167246.1:g.2247618A>C, NT_167247.2:g.2275891A>C, NT_167247.1:g.2281476A>C, NM_205854.3:c.97T>G, NM_205854.2:c.97T>G, NP_995326.1:p.Ser33Ala

dbSNP

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