SNP Links for Protein (Select 767948302) - SNP

Links from Protein

Items: 1 to 20 of 318

<< First< Prev

Page of 16

Next >Last >>

Select item 14881260191.

rs1488126019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:134530778 (GRCh38)
7:134215530 (GRCh37)
Canonical SPDI:: NC_000007.14:134530777:G:A
Gene:: AKR1B10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.134530778G>A, NC_000007.13:g.134215530G>A, NM_020299.5:c.202G>A, NM_020299.4:c.202G>A, XM_011516417.3:c.202G>A, XM_011516417.2:c.202G>A, XM_011516417.1:c.202G>A, XM_011516416.2:c.202G>A, XM_011516416.1:c.202G>A, XM_047420634.1:c.202G>A, NM_004812.1:c.202G>A, NP_064695.3:p.Val68Met, XP_011514719.1:p.Val68Met, XP_011514718.1:p.Val68Met, XP_047276590.1:p.Val68Met

Select item 14851781672.

rs1485178167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:134537087 (GRCh38)
7:134221839 (GRCh37)
Canonical SPDI:: NC_000007.14:134537086:A:G
Gene:: AKR1B10 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.134537087A>G, NC_000007.13:g.134221839A>G, NM_020299.5:c.589A>G, NM_020299.4:c.589A>G, XM_011516416.2:c.472A>G, XM_011516416.1:c.472A>G, XM_047420634.1:c.589A>G, NM_004812.1:c.589A>G, NP_064695.3:p.Ile197Val, XP_011514718.1:p.Ile158Val, XP_047276590.1:p.Ile197Val

Select item 14850449223.

rs1485044922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:134538988 (GRCh38)
7:134223740 (GRCh37)
Canonical SPDI:: NC_000007.14:134538987:C:T
Gene:: AKR1B10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.134538988C>T, NC_000007.13:g.134223740C>T, NM_020299.5:c.879C>T, NM_020299.4:c.879C>T, XM_011516416.2:c.762C>T, XM_011516416.1:c.762C>T, XM_047420634.1:c.*64C>T, NM_004812.1:c.879C>T

Select item 14824927674.

rs1482492767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:134530771 (GRCh38)
7:134215523 (GRCh37)
Canonical SPDI:: NC_000007.14:134530770:G:T
Gene:: AKR1B10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.134530771G>T, NC_000007.13:g.134215523G>T, NM_020299.5:c.195G>T, NM_020299.4:c.195G>T, XM_011516417.3:c.195G>T, XM_011516417.2:c.195G>T, XM_011516417.1:c.195G>T, XM_011516416.2:c.195G>T, XM_011516416.1:c.195G>T, XM_047420634.1:c.195G>T, NM_004812.1:c.195G>T, NP_064695.3:p.Glu65Asp, XP_011514719.1:p.Glu65Asp, XP_011514718.1:p.Glu65Asp, XP_047276590.1:p.Glu65Asp

Select item 14813794595.

rs1481379459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:134537581 (GRCh38)
7:134222333 (GRCh37)
Canonical SPDI:: NC_000007.14:134537580:G:A
Gene:: AKR1B10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.134537581G>A, NC_000007.13:g.134222333G>A, NM_020299.5:c.661G>A, NM_020299.4:c.661G>A, XM_011516416.2:c.544G>A, XM_011516416.1:c.544G>A, XM_047420634.1:c.661G>A, NM_004812.1:c.661G>A, NP_064695.3:p.Ala221Thr, XP_011514718.1:p.Ala182Thr, XP_047276590.1:p.Ala221Thr

Select item 14790593276.

rs1479059327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:134537109 (GRCh38)
7:134221861 (GRCh37)
Canonical SPDI:: NC_000007.14:134537108:G:A,NC_000007.14:134537108:G:T
Gene:: AKR1B10 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.134537109G>A, NC_000007.14:g.134537109G>T, NC_000007.13:g.134221861G>A, NC_000007.13:g.134221861G>T, NM_020299.5:c.611G>A, NM_020299.5:c.611G>T, NM_020299.4:c.611G>A, NM_020299.4:c.611G>T, XM_011516416.2:c.494G>A, XM_011516416.2:c.494G>T, XM_011516416.1:c.494G>A, XM_011516416.1:c.494G>T, XM_047420634.1:c.611G>A, XM_047420634.1:c.611G>T, NM_004812.1:c.611G>A, NM_004812.1:c.611G>T, NP_064695.3:p.Gly204Asp, NP_064695.3:p.Gly204Val, XP_011514718.1:p.Gly165Asp, XP_011514718.1:p.Gly165Val, XP_047276590.1:p.Gly204Asp, XP_047276590.1:p.Gly204Val

Select item 14775235187.

rs1477523518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:134530716 (GRCh38)
7:134215468 (GRCh37)
Canonical SPDI:: NC_000007.14:134530715:A:G
Gene:: AKR1B10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.134530716A>G, NC_000007.13:g.134215468A>G, NM_020299.5:c.140A>G, NM_020299.4:c.140A>G, XM_011516417.3:c.140A>G, XM_011516417.2:c.140A>G, XM_011516417.1:c.140A>G, XM_011516416.2:c.140A>G, XM_011516416.1:c.140A>G, XM_047420634.1:c.140A>G, NM_004812.1:c.140A>G, NP_064695.3:p.Tyr47Cys, XP_011514719.1:p.Tyr47Cys, XP_011514718.1:p.Tyr47Cys, XP_047276590.1:p.Tyr47Cys

Select item 14714184888.

rs1471418488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:134541065 (GRCh38)
7:134225817 (GRCh37)
Canonical SPDI:: NC_000007.14:134541064:C:G
Gene:: AKR1B10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000057/2 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.134541065C>G, NC_000007.13:g.134225817C>G, NM_020299.5:c.927C>G, NM_020299.4:c.927C>G, XM_011516416.2:c.810C>G, XM_011516416.1:c.810C>G, NM_004812.1:c.927C>G, NP_064695.3:p.Asp309Glu, XP_011514718.1:p.Asp270Glu

Select item 14686184319.

rs1468618431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:134536671 (GRCh38)
7:134221423 (GRCh37)
Canonical SPDI:: NC_000007.14:134536670:G:A
Gene:: AKR1B10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.134536671G>A, NC_000007.13:g.134221423G>A, NM_020299.5:c.451G>A, NM_020299.4:c.451G>A, XM_011516416.2:c.334G>A, XM_011516416.1:c.334G>A, XM_047420634.1:c.451G>A, NM_004812.1:c.451G>A, NP_064695.3:p.Glu151Lys, XP_011514718.1:p.Glu112Lys, XP_047276590.1:p.Glu151Lys

Select item 146261607010.

rs1462616070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:134539015 (GRCh38)
7:134223767 (GRCh37)
Canonical SPDI:: NC_000007.14:134539014:G:A
Gene:: AKR1B10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_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_000007.14:g.134539015G>A, NC_000007.13:g.134223767G>A, NM_020299.5:c.906G>A, NM_020299.4:c.906G>A, XM_011516416.2:c.789G>A, XM_011516416.1:c.789G>A, XM_047420634.1:c.*91G>A, NM_004812.1:c.906G>A

Select item 145982573711.

rs1459825737 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:134538969 (GRCh38)
7:134223721 (GRCh37)
Canonical SPDI:: NC_000007.14:134538968:C:G
Gene:: AKR1B10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.134538969C>G, NC_000007.13:g.134223721C>G, NM_020299.5:c.860C>G, NM_020299.4:c.860C>G, XM_011516416.2:c.743C>G, XM_011516416.1:c.743C>G, XM_047420634.1:c.*45C>G, NM_004812.1:c.860C>G, NP_064695.3:p.Ala287Gly, XP_011514718.1:p.Ala248Gly

Select item 145969693912.

rs1459696939 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 7:134533077 (GRCh38)
7:134217829 (GRCh37)
Canonical SPDI:: NC_000007.14:134533076:GGG:GG
Gene:: AKR1B10 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.134533079del, NC_000007.13:g.134217831del, NM_020299.5:c.427del, NM_020299.4:c.427del, XM_011516417.3:c.427del, XM_011516417.2:c.427del, XM_011516417.1:c.427del, XM_011516416.2:c.310del, XM_011516416.1:c.310del, XM_047420634.1:c.427del, NM_004812.1:c.427del, NP_064695.3:p.Glu143fs, XP_011514719.1:p.Glu143fs, XP_011514718.1:p.Glu104fs, XP_047276590.1:p.Glu143fs

Select item 145927840213.

rs1459278402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:134536694 (GRCh38)
7:134221446 (GRCh37)
Canonical SPDI:: NC_000007.14:134536693:G:T
Gene:: AKR1B10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.134536694G>T, NC_000007.13:g.134221446G>T, NM_020299.5:c.474G>T, NM_020299.4:c.474G>T, XM_011516416.2:c.357G>T, XM_011516416.1:c.357G>T, XM_047420634.1:c.474G>T, NM_004812.1:c.474G>T

Select item 145877024314.

rs1458770243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:134530727 (GRCh38)
7:134215479 (GRCh37)
Canonical SPDI:: NC_000007.14:134530726:A:T
Gene:: AKR1B10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.134530727A>T, NC_000007.13:g.134215479A>T, NM_020299.5:c.151A>T, NM_020299.4:c.151A>T, XM_011516417.3:c.151A>T, XM_011516417.2:c.151A>T, XM_011516417.1:c.151A>T, XM_011516416.2:c.151A>T, XM_011516416.1:c.151A>T, XM_047420634.1:c.151A>T, NM_004812.1:c.151A>T, NP_064695.3:p.Asn51Tyr, XP_011514719.1:p.Asn51Tyr, XP_011514718.1:p.Asn51Tyr, XP_047276590.1:p.Asn51Tyr

Select item 144936942815.

rs1449369428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:134538241 (GRCh38)
7:134222993 (GRCh37)
Canonical SPDI:: NC_000007.14:134538240:G:A,NC_000007.14:134538240:G:C
Gene:: AKR1B10 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.134538241G>A, NC_000007.14:g.134538241G>C, NC_000007.13:g.134222993G>A, NC_000007.13:g.134222993G>C, NM_020299.5:c.789G>A, NM_020299.5:c.789G>C, NM_020299.4:c.789G>A, NM_020299.4:c.789G>C, XM_011516416.2:c.672G>A, XM_011516416.2:c.672G>C, XM_011516416.1:c.672G>A, XM_011516416.1:c.672G>C, XM_047420634.1:c.838G>A, XM_047420634.1:c.838G>C, NM_004812.1:c.789G>A, NM_004812.1:c.789G>C, NP_064695.3:p.Lys263Asn, XP_011514718.1:p.Lys224Asn, XP_047276590.1:p.Val280Ile, XP_047276590.1:p.Val280Leu

Select item 143162812016.

rs1431628120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:134537129 (GRCh38)
7:134221881 (GRCh37)
Canonical SPDI:: NC_000007.14:134537128:A:T
Gene:: AKR1B10 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.134537129A>T, NC_000007.13:g.134221881A>T, NM_020299.5:c.631A>T, NM_020299.4:c.631A>T, XM_011516416.2:c.514A>T, XM_011516416.1:c.514A>T, XM_047420634.1:c.631A>T, NM_004812.1:c.631A>T, NP_064695.3:p.Ser211Cys, XP_011514718.1:p.Ser172Cys, XP_047276590.1:p.Ser211Cys

Select item 143004455617.

rs1430044556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:134530708 (GRCh38)
7:134215460 (GRCh37)
Canonical SPDI:: NC_000007.14:134530707:C:T
Gene:: AKR1B10 (Varview)
Functional Consequence:: synonymous_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_000007.14:g.134530708C>T, NC_000007.13:g.134215460C>T, NM_020299.5:c.132C>T, NM_020299.4:c.132C>T, XM_011516417.3:c.132C>T, XM_011516417.2:c.132C>T, XM_011516417.1:c.132C>T, XM_011516416.2:c.132C>T, XM_011516416.1:c.132C>T, XM_047420634.1:c.132C>T, NM_004812.1:c.132C>T

Select item 142931000618.

rs1429310006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:134538951 (GRCh38)
7:134223703 (GRCh37)
Canonical SPDI:: NC_000007.14:134538950:T:A
Gene:: AKR1B10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_gained,coding_sequence_variant,genic_downstream_transcript_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_000007.14:g.134538951T>A, NC_000007.13:g.134223703T>A, NM_020299.5:c.842T>A, NM_020299.4:c.842T>A, XM_011516416.2:c.725T>A, XM_011516416.1:c.725T>A, XM_047420634.1:c.*27T>A, NM_004812.1:c.842T>A, NP_064695.3:p.Leu281Ter, XP_011514718.1:p.Leu242Ter

Select item 142807711219.

rs1428077112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:134538946 (GRCh38)
7:134223698 (GRCh37)
Canonical SPDI:: NC_000007.14:134538945:T:G
Gene:: AKR1B10 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.134538946T>G, NC_000007.13:g.134223698T>G, NM_020299.5:c.837T>G, NM_020299.4:c.837T>G, XM_011516416.2:c.720T>G, XM_011516416.1:c.720T>G, XM_047420634.1:c.*22T>G, NM_004812.1:c.837T>G, NP_064695.3:p.Phe279Leu, XP_011514718.1:p.Phe240Leu

Select item 142780865320.

rs1427808653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:134536677 (GRCh38)
7:134221429 (GRCh37)
Canonical SPDI:: NC_000007.14:134536676:C:A
Gene:: AKR1B10 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.134536677C>A, NC_000007.13:g.134221429C>A, NM_020299.5:c.457C>A, NM_020299.4:c.457C>A, XM_011516416.2:c.340C>A, XM_011516416.1:c.340C>A, XM_047420634.1:c.457C>A, NM_004812.1:c.457C>A, NP_064695.3:p.Leu153Met, XP_011514718.1:p.Leu114Met, XP_047276590.1:p.Leu153Met

<< First< Prev

Page of 16

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 318

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity