SNP Links for Gene (Select 112399) - SNP

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Select item 14915697161.

rs1491569716 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 14:33950795 (GRCh38)
14:34420002 (GRCh37)
Canonical SPDI:: NC_000014.9:33950795::CC
Gene:: EGLN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.00529/71 (ALFA)
HGVS:: NC_000014.9:g.33950795_33950796insCC, NC_000014.8:g.34420001_34420002insCC, NM_022073.4:c.-44_-43insGG, NM_022073.3:c.-44_-43insGG, NM_001308103.2:c.-44_-43insGG, NM_001308103.1:c.-44_-43insGG, NM_033344.1:c.-44_-43insGG

Select item 14915653542.

rs1491565354 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACATA,CATA [Show Flanks]
Chromosome:: 14:33935620 (GRCh38)
14:34404827 (GRCh37)
Canonical SPDI:: NC_000014.9:33935620:A:ACACATA,NC_000014.9:33935620:A:ACATA
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACATA=0./0 (ALFA)
ACACAT=0.00004/3 (GnomAD)
HGVS:: NC_000014.9:g.33935621AC[2]ATA[1], NC_000014.9:g.33935621_33935622insCATA, NC_000014.8:g.34404827AC[2]ATA[1], NC_000014.8:g.34404827_34404828insCATA

Select item 14914770753.

rs1491477075 [Homo sapiens]

Variant type:: SNV:
Alleles:: TG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14914221334.

rs1491422133 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAA,AAAA,CAA [Show Flanks]
Chromosome:: 14:33924940 (GRCh38)
14:34394147 (GRCh37)
Canonical SPDI:: NC_000014.9:33924940::A,NC_000014.9:33924940::AAA,NC_000014.9:33924940::AAAA,NC_000014.9:33924940::CAA
Gene:: EGLN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AAA=0.00378/58 (TOMMO)
HGVS:: NC_000014.9:g.33924940_33924941insA, NC_000014.9:g.33924940_33924941insAAA, NC_000014.9:g.33924940_33924941insAAAA, NC_000014.9:g.33924940_33924941insCAA, NC_000014.8:g.34394146_34394147insA, NC_000014.8:g.34394146_34394147insAAA, NC_000014.8:g.34394146_34394147insAAAA, NC_000014.8:g.34394146_34394147insCAA, NM_022073.4:c.*950_*951insT, NM_022073.4:c.*950_*951insTTT, NM_022073.4:c.*950_*951insTTTT, NM_022073.4:c.*950_*951insTTG, NM_022073.3:c.*950_*951insT, NM_022073.3:c.*950_*951insTTT, NM_022073.3:c.*950_*951insTTTT, NM_022073.3:c.*950_*951insTTG, NM_001308103.2:c.*950_*951insT, NM_001308103.2:c.*950_*951insTTT, NM_001308103.2:c.*950_*951insTTTT, NM_001308103.2:c.*950_*951insTTG, NM_001308103.1:c.*950_*951insT, NM_001308103.1:c.*950_*951insTTT, NM_001308103.1:c.*950_*951insTTTT, NM_001308103.1:c.*950_*951insTTG

Select item 14914024805.

rs1491402480 has merged into rs35808198 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 14:33924549 (GRCh38)
14:34393755 (GRCh37)
Canonical SPDI:: NC_000014.9:33924537:TATATATATATATAT:TATATATATAT,NC_000014.9:33924537:TATATATATATATAT:TATATATATATAT,NC_000014.9:33924537:TATATATATATATAT:TATATATATATATATAT,NC_000014.9:33924537:TATATATATATATAT:TATATATATATATATATAT,NC_000014.9:33924537:TATATATATATATAT:TATATATATATATATATATAT
Gene:: EGLN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATAT=0./0 (ALFA)
TA=0.3263/1462 (Estonian)
TA=0.3353/1679 (1000Genomes)
TA=0.3383/203 (NorthernSweden)
HGVS:: NC_000014.9:g.33924539AT[5], NC_000014.9:g.33924539AT[6], NC_000014.9:g.33924539AT[8], NC_000014.9:g.33924539AT[9], NC_000014.9:g.33924539AT[10], NC_000014.8:g.34393745AT[5], NC_000014.8:g.34393745AT[6], NC_000014.8:g.34393745AT[8], NC_000014.8:g.34393745AT[9], NC_000014.8:g.34393745AT[10], NM_022073.4:c.*1340TA[5], NM_022073.4:c.*1340TA[6], NM_022073.4:c.*1340TA[8], NM_022073.4:c.*1340TA[9], NM_022073.4:c.*1340TA[10], NM_022073.3:c.*1340TA[5], NM_022073.3:c.*1340TA[6], NM_022073.3:c.*1340TA[8], NM_022073.3:c.*1340TA[9], NM_022073.3:c.*1340TA[10], NM_001308103.2:c.*1340TA[5], NM_001308103.2:c.*1340TA[6], NM_001308103.2:c.*1340TA[8], NM_001308103.2:c.*1340TA[9], NM_001308103.2:c.*1340TA[10], NM_001308103.1:c.*1340TA[5], NM_001308103.1:c.*1340TA[6], NM_001308103.1:c.*1340TA[8], NM_001308103.1:c.*1340TA[9], NM_001308103.1:c.*1340TA[10]

Select item 14912766646.

rs1491276664 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 14:33950799 (GRCh38)
14:34420005 (GRCh37)
Canonical SPDI:: NC_000014.9:33950794:AGAGAG:AGAG
Gene:: EGLN3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.33950795AG[2], NC_000014.8:g.34420001AG[2], NM_022073.4:c.-48CT[2], NM_022073.3:c.-48CT[2], NM_001308103.2:c.-48CT[2], NM_001308103.1:c.-48CT[2], NM_033344.1:c.-48CT[2]

Select item 14911870087.

rs1491187008 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,TA [Show Flanks]
Chromosome:: 14:33933313 (GRCh38)
14:34402520 (GRCh37)
Canonical SPDI:: NC_000014.9:33933313::A,NC_000014.9:33933313::AA,NC_000014.9:33933313::AAA,NC_000014.9:33933313::TA
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000014.9:g.33933313_33933314insA, NC_000014.9:g.33933313_33933314insAA, NC_000014.9:g.33933313_33933314insAAA, NC_000014.9:g.33933313_33933314insTA, NC_000014.8:g.34402519_34402520insA, NC_000014.8:g.34402519_34402520insAA, NC_000014.8:g.34402519_34402520insAAA, NC_000014.8:g.34402519_34402520insTA

Select item 14910999378.

rs1491099937 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:33924940 (GRCh38)
14:34394146 (GRCh37)
Canonical SPDI:: NC_000014.9:33924939:CT:
Gene:: EGLN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000172/19 (GnomAD)
-=0.000602/10 (TOMMO)
HGVS:: NC_000014.9:g.33924940_33924941del, NC_000014.8:g.34394146_34394147del, NM_022073.4:c.*950_*951del, NM_022073.3:c.*950_*951del, NM_001308103.2:c.*950_*951del, NM_001308103.1:c.*950_*951del

Select item 14909687339.

rs1490968733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:33941585 (GRCh38)
14:34410791 (GRCh37)
Canonical SPDI:: NC_000014.9:33941584:A:C,NC_000014.9:33941584:A:G
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.33941585A>C, NC_000014.9:g.33941585A>G, NC_000014.8:g.34410791A>C, NC_000014.8:g.34410791A>G

Select item 149091496210.

rs1490914962 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 14:33929530 (GRCh38)
14:34398736 (GRCh37)
Canonical SPDI:: NC_000014.9:33929526:TTTTT:TTT
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.33929530_33929531del, NC_000014.8:g.34398736_34398737del

Select item 149087180311.

rs1490871803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:33944351 (GRCh38)
14:34413557 (GRCh37)
Canonical SPDI:: NC_000014.9:33944350:A:T
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.33944351A>T, NC_000014.8:g.34413557A>T

Select item 149085613012.

rs1490856130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:33945531 (GRCh38)
14:34414737 (GRCh37)
Canonical SPDI:: NC_000014.9:33945530:T:C
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.33945531T>C, NC_000014.8:g.34414737T>C

Select item 149042581213.

rs1490425812 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:33929909 (GRCh38)
14:34399115 (GRCh37)
Canonical SPDI:: NC_000014.9:33929908:A:C
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.33929909A>C, NC_000014.8:g.34399115A>C

Select item 149038296614.

rs1490382966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:33944816 (GRCh38)
14:34414022 (GRCh37)
Canonical SPDI:: NC_000014.9:33944815:T:G
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.33944816T>G, NC_000014.8:g.34414022T>G

Select item 149033071815.

rs1490330718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:33938331 (GRCh38)
14:34407537 (GRCh37)
Canonical SPDI:: NC_000014.9:33938330:C:T
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.33938331C>T, NC_000014.8:g.34407537C>T

Select item 149026884016.

rs1490268840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:33924910 (GRCh38)
14:34394116 (GRCh37)
Canonical SPDI:: NC_000014.9:33924909:G:A,NC_000014.9:33924909:G:T
Gene:: EGLN3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.00129/21 (ALFA)
HGVS:: NC_000014.9:g.33924910G>A, NC_000014.9:g.33924910G>T, NC_000014.8:g.34394116G>A, NC_000014.8:g.34394116G>T, NM_022073.4:c.*981C>T, NM_022073.4:c.*981C>A, NM_022073.3:c.*981C>T, NM_022073.3:c.*981C>A, NM_001308103.2:c.*981C>T, NM_001308103.2:c.*981C>A, NM_001308103.1:c.*981C>T, NM_001308103.1:c.*981C>A

Select item 148986987017.

rs1489869870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:33931650 (GRCh38)
14:34400856 (GRCh37)
Canonical SPDI:: NC_000014.9:33931649:G:T
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.33931650G>T, NC_000014.8:g.34400856G>T

Select item 148985364018.

rs1489853640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:33942808 (GRCh38)
14:34412014 (GRCh37)
Canonical SPDI:: NC_000014.9:33942807:G:A
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.33942808G>A, NC_000014.8:g.34412014G>A

Select item 148981543519.

rs1489815435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:33938718 (GRCh38)
14:34407924 (GRCh37)
Canonical SPDI:: NC_000014.9:33938717:C:T
Gene:: EGLN3 (Varview)
Functional Consequence:: 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_000014.9:g.33938718C>T, NC_000014.8:g.34407924C>T

Select item 148971543420.

rs1489715434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:33946606 (GRCh38)
14:34415812 (GRCh37)
Canonical SPDI:: NC_000014.9:33946605:T:C
Gene:: EGLN3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.33946606T>C, NC_000014.8:g.34415812T>C

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