SNP Links for Protein (Select 393537031) - SNP

Links from Protein

Items: 1 to 20 of 359

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Select item 14873933911.

rs1487393391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:42911008 (GRCh38)
17:41063025 (GRCh37)
Canonical SPDI:: NC_000017.11:42911007:T:G
Gene:: G6PC1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42911008T>G, NC_000017.10:g.41063025T>G, NG_011808.1:g.15211T>G, NM_000151.4:c.656T>G, NM_000151.3:c.656T>G, NM_001270397.2:c.*48T>G, NM_001270397.1:c.*48T>G, NP_000142.2:p.Phe219Cys

Select item 14850389372.

rs1485038937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:42909416 (GRCh38)
17:41061433 (GRCh37)
Canonical SPDI:: NC_000017.11:42909415:C:A,NC_000017.11:42909415:C:G
Gene:: G6PC1 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42909416C>A, NC_000017.11:g.42909416C>G, NC_000017.10:g.41061433C>A, NC_000017.10:g.41061433C>G, NG_011808.1:g.13619C>A, NG_011808.1:g.13619C>G, NM_000151.4:c.560C>A, NM_000151.4:c.560C>G, NM_000151.3:c.560C>A, NM_000151.3:c.560C>G, NM_001270397.2:c.483C>A, NM_001270397.2:c.483C>G, NM_001270397.1:c.483C>A, NM_001270397.1:c.483C>G, NP_000142.2:p.Ser187Ter, NP_000142.2:p.Ser187Ter

Select item 14822922873.

rs1482292287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:42909328 (GRCh38)
17:41061345 (GRCh37)
Canonical SPDI:: NC_000017.11:42909327:G:C
Gene:: G6PC1 (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_000017.11:g.42909328G>C, NC_000017.10:g.41061345G>C, NG_011808.1:g.13531G>C, NM_000151.4:c.472G>C, NM_000151.3:c.472G>C, NM_001270397.2:c.395G>C, NM_001270397.1:c.395G>C, NP_000142.2:p.Gly158Arg, NP_001257326.1:p.Gly132Ala

Select item 14811199794.

rs1481119979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:42911082 (GRCh38)
17:41063099 (GRCh37)
Canonical SPDI:: NC_000017.11:42911081:T:G
Gene:: G6PC1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42911082T>G, NC_000017.10:g.41063099T>G, NG_011808.1:g.15285T>G, NM_000151.4:c.730T>G, NM_000151.3:c.730T>G, NM_001270397.2:c.*122T>G, NM_001270397.1:c.*122T>G, NP_000142.2:p.Trp244Gly

Select item 14801933665.

rs1480193366 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:42903938 (GRCh38)
17:41055955 (GRCh37)
Canonical SPDI:: NC_000017.11:42903937:TTT:TT
Gene:: G6PC1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42903940del, NC_000017.10:g.41055957del, NG_011808.1:g.8143del, NM_000151.4:c.240del, NM_000151.3:c.240del, NM_001270397.2:c.240del, NM_001270397.1:c.240del, NP_000142.2:p.Phe80fs, NP_001257326.1:p.Phe80fs

Select item 14762165906.

rs1476216590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42903940 (GRCh38)
17:41055957 (GRCh37)
Canonical SPDI:: NC_000017.11:42903939:T:C
Gene:: G6PC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000283/5 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.42903940T>C, NC_000017.10:g.41055957T>C, NG_011808.1:g.8143T>C, NM_000151.4:c.240T>C, NM_000151.3:c.240T>C, NM_001270397.2:c.240T>C, NM_001270397.1:c.240T>C

Select item 14758973817.

rs1475897381 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:42901031 (GRCh38)
17:41053048 (GRCh37)
Canonical SPDI:: NC_000017.11:42901030:A:G
Gene:: G6PC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.42901031A>G, NC_000017.10:g.41053048A>G, NG_011808.1:g.5234A>G, NM_000151.4:c.155A>G, NM_000151.3:c.155A>G, NM_001270397.2:c.155A>G, NM_001270397.1:c.155A>G, NP_000142.2:p.His52Arg, NP_001257326.1:p.His52Arg

Select item 14709235578.

rs1470923557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42907613 (GRCh38)
17:41059630 (GRCh37)
Canonical SPDI:: NC_000017.11:42907612:C:T
Gene:: G6PC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000016/4 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000064/17 (TOPMED)
HGVS:: NC_000017.11:g.42907613C>T, NC_000017.10:g.41059630C>T, NG_011808.1:g.11816C>T, NM_000151.4:c.431C>T, NM_000151.3:c.431C>T, NM_001270397.2:c.354C>T, NM_001270397.1:c.354C>T, NP_000142.2:p.Pro144Leu

Select item 14708716529.

rs1470871652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42911353 (GRCh38)
17:41063370 (GRCh37)
Canonical SPDI:: NC_000017.11:42911352:C:T
Gene:: G6PC1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42911353C>T, NC_000017.10:g.41063370C>T, NG_011808.1:g.15556C>T, NM_000151.4:c.1001C>T, NM_000151.3:c.1001C>T, NM_001270397.2:c.*393C>T, NM_001270397.1:c.*393C>T, NP_000142.2:p.Pro334Leu

Select item 146916115510.

rs1469161155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42907590 (GRCh38)
17:41059607 (GRCh37)
Canonical SPDI:: NC_000017.11:42907589:C:T
Gene:: G6PC1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42907590C>T, NC_000017.10:g.41059607C>T, NG_011808.1:g.11793C>T, NM_000151.4:c.408C>T, NM_000151.3:c.408C>T

Select item 146691033611.

rs1466910336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42910921 (GRCh38)
17:41062938 (GRCh37)
Canonical SPDI:: NC_000017.11:42910920:C:T
Gene:: G6PC1 (Varview)
Functional Consequence:: synonymous_variant,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_000017.11:g.42910921C>T, NC_000017.10:g.41062938C>T, NG_011808.1:g.15124C>T, NM_000151.4:c.569C>T, NM_000151.3:c.569C>T, NM_001270397.2:c.492C>T, NM_001270397.1:c.492C>T, NP_000142.2:p.Ala190Val

Select item 146027595512.

rs1460275955 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:42903945 (GRCh38)
17:41055962 (GRCh37)
Canonical SPDI:: NC_000017.11:42903944:A:C
Gene:: G6PC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42903945A>C, NC_000017.10:g.41055962A>C, NG_011808.1:g.8148A>C, NM_000151.4:c.245A>C, NM_000151.3:c.245A>C, NM_001270397.2:c.245A>C, NM_001270397.1:c.245A>C, NP_000142.2:p.Gln82Pro, NP_001257326.1:p.Gln82Pro

Select item 145792540413.

rs1457925404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:42911059 (GRCh38)
17:41063076 (GRCh37)
Canonical SPDI:: NC_000017.11:42911058:G:A,NC_000017.11:42911058:G:C
Gene:: G6PC1 (Varview)
Functional Consequence:: stop_gained,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42911059G>A, NC_000017.11:g.42911059G>C, NC_000017.10:g.41063076G>A, NC_000017.10:g.41063076G>C, NG_011808.1:g.15262G>A, NG_011808.1:g.15262G>C, NM_000151.4:c.707G>A, NM_000151.4:c.707G>C, NM_000151.3:c.707G>A, NM_000151.3:c.707G>C, NM_001270397.2:c.*99G>A, NM_001270397.2:c.*99G>C, NM_001270397.1:c.*99G>A, NM_001270397.1:c.*99G>C, NP_000142.2:p.Trp236Ter, NP_000142.2:p.Trp236Ser

Select item 145439291614.

rs1454392916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42911282 (GRCh38)
17:41063299 (GRCh37)
Canonical SPDI:: NC_000017.11:42911281:C:T
Gene:: G6PC1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42911282C>T, NC_000017.10:g.41063299C>T, NG_011808.1:g.15485C>T, NM_000151.4:c.930C>T, NM_000151.3:c.930C>T, NM_001270397.2:c.*322C>T, NM_001270397.1:c.*322C>T

Select item 144526962815.

rs1445269628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42911355 (GRCh38)
17:41063372 (GRCh37)
Canonical SPDI:: NC_000017.11:42911354:C:T
Gene:: G6PC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_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_000017.11:g.42911355C>T, NC_000017.10:g.41063372C>T, NG_011808.1:g.15558C>T, NM_000151.4:c.1003C>T, NM_000151.3:c.1003C>T, NM_001270397.2:c.*395C>T, NM_001270397.1:c.*395C>T

Select item 144445807716.

rs1444458077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42911388 (GRCh38)
17:41063405 (GRCh37)
Canonical SPDI:: NC_000017.11:42911387:G:A
Gene:: G6PC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.42911388G>A, NC_000017.10:g.41063405G>A, NG_011808.1:g.15591G>A, NM_000151.4:c.1036G>A, NM_000151.3:c.1036G>A, NM_001270397.2:c.*428G>A, NM_001270397.1:c.*428G>A, NP_000142.2:p.Ala346Thr

Select item 144353894517.

rs1443538945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42907583 (GRCh38)
17:41059600 (GRCh37)
Canonical SPDI:: NC_000017.11:42907582:C:T
Gene:: G6PC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42907583C>T, NC_000017.10:g.41059600C>T, NG_011808.1:g.11786C>T, NM_000151.4:c.401C>T, NM_000151.3:c.401C>T, NP_000142.2:p.Thr134Ile

Select item 143931104318.

rs1439311043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42907580 (GRCh38)
17:41059597 (GRCh37)
Canonical SPDI:: NC_000017.11:42907579:C:T
Gene:: G6PC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000017.11:g.42907580C>T, NC_000017.10:g.41059597C>T, NG_011808.1:g.11783C>T, NM_000151.4:c.398C>T, NM_000151.3:c.398C>T, NP_000142.2:p.Ser133Phe

Select item 142800359919.

rs1428003599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42909373 (GRCh38)
17:41061390 (GRCh37)
Canonical SPDI:: NC_000017.11:42909372:C:G
Gene:: G6PC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42909373C>G, NC_000017.10:g.41061390C>G, NG_011808.1:g.13576C>G, NM_000151.4:c.517C>G, NM_000151.3:c.517C>G, NM_001270397.2:c.440C>G, NM_001270397.1:c.440C>G, NP_000142.2:p.Leu173Val, NP_001257326.1:p.Pro147Arg

Select item 142242498620.

rs1422424986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:42911105 (GRCh38)
17:41063122 (GRCh37)
Canonical SPDI:: NC_000017.11:42911104:C:A,NC_000017.11:42911104:C:T
Gene:: G6PC1 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42911105C>A, NC_000017.11:g.42911105C>T, NC_000017.10:g.41063122C>A, NC_000017.10:g.41063122C>T, NG_011808.1:g.15308C>A, NG_011808.1:g.15308C>T, NM_000151.4:c.753C>A, NM_000151.4:c.753C>T, NM_000151.3:c.753C>A, NM_000151.3:c.753C>T, NM_001270397.2:c.*145C>A, NM_001270397.2:c.*145C>T, NM_001270397.1:c.*145C>A, NM_001270397.1:c.*145C>T

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