SNP Links for Nucleotide (Select 197927396) - SNP

Links from Nucleotide

Items: 1 to 20 of 1000

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Select item 14915249981.

rs1491524998 has merged into rs35332486 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 6:143492202 (GRCh38)
6:143813339 (GRCh37)
Canonical SPDI:: NC_000006.12:143492185:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:143492185:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:143492185:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:143492185:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:143492185:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143492185:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143492185:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143492185:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.00068/10 (TOMMO)
AAAAAAA=0.00189/1 (NorthernSweden)
-=0.01586/28 (Korea1K)
HGVS:: NC_000006.12:g.143492202_143492203del, NC_000006.12:g.143492203del, NC_000006.12:g.143492203dup, NC_000006.12:g.143492202_143492203dup, NC_000006.12:g.143492200_143492203dup, NC_000006.12:g.143492199_143492203dup, NC_000006.12:g.143492198_143492203dup, NC_000006.12:g.143492197_143492203dup, NC_000006.11:g.143813339_143813340del, NC_000006.11:g.143813340del, NC_000006.11:g.143813340dup, NC_000006.11:g.143813339_143813340dup, NC_000006.11:g.143813337_143813340dup, NC_000006.11:g.143813336_143813340dup, NC_000006.11:g.143813335_143813340dup, NC_000006.11:g.143813334_143813340dup, NG_013291.3:g.1795_1796del, NG_013291.3:g.1796del, NG_013291.3:g.1796dup, NG_013291.3:g.1795_1796dup, NG_013291.3:g.1793_1796dup, NG_013291.3:g.1792_1796dup, NG_013291.3:g.1791_1796dup, NG_013291.3:g.1790_1796dup, NG_008459.1:g.46422_46423del, NG_008459.1:g.46423del, NG_008459.1:g.46423dup, NG_008459.1:g.46422_46423dup, NG_008459.1:g.46420_46423dup, NG_008459.1:g.46419_46423dup, NG_008459.1:g.46418_46423dup, NG_008459.1:g.46417_46423dup

Select item 14915199682.

rs1491519968 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:143489544 (GRCh38)
6:143810682 (GRCh37)
Canonical SPDI:: NC_000006.12:143489544::T
Gene:: PEX3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.017897/80 (ALFA)
T=0.000779/13 (TOMMO)
T=0.001667/1 (NorthernSweden)
T=0.006021/828 (GnomAD)
T=0.018527/83 (Estonian)
HGVS:: NC_000006.12:g.143489544_143489545insT, NC_000006.11:g.143810681_143810682insT, NG_008459.1:g.43764_43765insT, NM_003630.3:c.*318_*319insT, NM_003630.2:c.*318_*319insT

Select item 14915043723.

rs1491504372 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 6:143468815 (GRCh38)
6:143789952 (GRCh37)
Canonical SPDI:: NC_000006.12:143468813:CAC:C
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00067/3 (ALFA)
-=0.00054/8 (TOMMO)
HGVS:: NC_000006.12:g.143468815_143468816del, NC_000006.11:g.143789952_143789953del, NG_008459.1:g.23035_23036del

Select item 14913864744.

rs1491386474 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:143481961 (GRCh38)
6:143803099 (GRCh37)
Canonical SPDI:: NC_000006.12:143481961:T:TT
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000142/2 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000064/17 (TOPMED)
HGVS:: NC_000006.12:g.143481962dup, NC_000006.11:g.143803099dup, NG_008459.1:g.36182dup

Select item 14911805765.

rs1491180576 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:143468814 (GRCh38)
6:143789952 (GRCh37)
Canonical SPDI:: NC_000006.12:143468814:A:AA
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.018761/2261 (GnomAD)
HGVS:: NC_000006.12:g.143468815dup, NC_000006.11:g.143789952dup, NG_008459.1:g.23035dup

Select item 14910674096.

rs1491067409 has merged into rs57329535 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAATGAAAACCTCTGTCAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:143460874 (GRCh38)
6:143782011 (GRCh37)
Canonical SPDI:: NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:143460864:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATGAAAACCTCTGTCAAAAAAAAAAAAAAAAAAAAA
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.06709/336 (1000Genomes)
HGVS:: NC_000006.12:g.143460874_143460884del, NC_000006.12:g.143460875_143460884del, NC_000006.12:g.143460877_143460884del, NC_000006.12:g.143460878_143460884del, NC_000006.12:g.143460879_143460884del, NC_000006.12:g.143460880_143460884del, NC_000006.12:g.143460881_143460884del, NC_000006.12:g.143460882_143460884del, NC_000006.12:g.143460883_143460884del, NC_000006.12:g.143460884del, NC_000006.12:g.143460884dup, NC_000006.12:g.143460883_143460884dup, NC_000006.12:g.143460882_143460884dup, NC_000006.12:g.143460881_143460884dup, NC_000006.12:g.143460880_143460884dup, NC_000006.12:g.143460878_143460884dup, NC_000006.12:g.143460877_143460884dup, NC_000006.12:g.143460871_143460884dup, NC_000006.12:g.143460865_143460884A[28]TGAAAACCTCTGTCAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.143782011_143782021del, NC_000006.11:g.143782012_143782021del, NC_000006.11:g.143782014_143782021del, NC_000006.11:g.143782015_143782021del, NC_000006.11:g.143782016_143782021del, NC_000006.11:g.143782017_143782021del, NC_000006.11:g.143782018_143782021del, NC_000006.11:g.143782019_143782021del, NC_000006.11:g.143782020_143782021del, NC_000006.11:g.143782021del, NC_000006.11:g.143782021dup, NC_000006.11:g.143782020_143782021dup, NC_000006.11:g.143782019_143782021dup, NC_000006.11:g.143782018_143782021dup, NC_000006.11:g.143782017_143782021dup, NC_000006.11:g.143782015_143782021dup, NC_000006.11:g.143782014_143782021dup, NC_000006.11:g.143782008_143782021dup, NC_000006.11:g.143782002_143782021A[28]TGAAAACCTCTGTCAAAAAAAAAAAAAAAAAAAAA[1], NG_008459.1:g.15094_15104del, NG_008459.1:g.15095_15104del, NG_008459.1:g.15097_15104del, NG_008459.1:g.15098_15104del, NG_008459.1:g.15099_15104del, NG_008459.1:g.15100_15104del, NG_008459.1:g.15101_15104del, NG_008459.1:g.15102_15104del, NG_008459.1:g.15103_15104del, NG_008459.1:g.15104del, NG_008459.1:g.15104dup, NG_008459.1:g.15103_15104dup, NG_008459.1:g.15102_15104dup, NG_008459.1:g.15101_15104dup, NG_008459.1:g.15100_15104dup, NG_008459.1:g.15098_15104dup, NG_008459.1:g.15097_15104dup, NG_008459.1:g.15091_15104dup, NG_008459.1:g.15085_15104A[28]TGAAAACCTCTGTCAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14909023457.

rs1490902345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:143470200 (GRCh38)
6:143791337 (GRCh37)
Canonical SPDI:: NC_000006.12:143470199:G:A
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.143470200G>A, NC_000006.11:g.143791337G>A, NG_008459.1:g.24420G>A

Select item 14908642908.

rs1490864290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:143453448 (GRCh38)
6:143774585 (GRCh37)
Canonical SPDI:: NC_000006.12:143453447:G:A
Gene:: PEX3 (Varview)
Functional Consequence:: intron_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.143453448G>A, NC_000006.11:g.143774585G>A, NG_008459.1:g.7668G>A

Select item 14907765079.

rs1490776507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:143460956 (GRCh38)
6:143782093 (GRCh37)
Canonical SPDI:: NC_000006.12:143460955:C:A
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.143460956C>A, NC_000006.11:g.143782093C>A, NG_008459.1:g.15176C>A

Select item 149073276110.

rs1490732761 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:143480259 (GRCh38)
6:143801396 (GRCh37)
Canonical SPDI:: NC_000006.12:143480258:T:C
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.143480259T>C, NC_000006.11:g.143801396T>C, NG_008459.1:g.34479T>C

Select item 149066259711.

rs1490662597 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:143487564 (GRCh38)
6:143808701 (GRCh37)
Canonical SPDI:: NC_000006.12:143487563:CT:
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.143487564_143487565del, NC_000006.11:g.143808701_143808702del, NG_008459.1:g.41784_41785del

Select item 149060927512.

rs1490609275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:143488747 (GRCh38)
6:143809884 (GRCh37)
Canonical SPDI:: NC_000006.12:143488746:T:C
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.143488747T>C, NC_000006.11:g.143809884T>C, NG_008459.1:g.42967T>C

Select item 149053607313.

rs1490536073 [Homo sapiens]

Variant type:: DEL
Alleles:: ACT>- [Show Flanks]
Chromosome:: 6:143462627 (GRCh38)
6:143783764 (GRCh37)
Canonical SPDI:: NC_000006.12:143462626:ACT:
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000006.12:g.143462627_143462629del, NC_000006.11:g.143783764_143783766del, NG_008459.1:g.16847_16849del

Select item 149046627614.

rs1490466276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:143468093 (GRCh38)
6:143789230 (GRCh37)
Canonical SPDI:: NC_000006.12:143468092:T:C
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.143468093T>C, NC_000006.11:g.143789230T>C, NG_008459.1:g.22313T>C

Select item 149037398615.

rs1490373986 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:143452978 (GRCh38)
6:143774115 (GRCh37)
Canonical SPDI:: NC_000006.12:143452977:T:
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.143452978del, NC_000006.11:g.143774115del, NG_008459.1:g.7198del

Select item 149004742616.

rs1490047426 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:143461572 (GRCh38)
6:143782709 (GRCh37)
Canonical SPDI:: NC_000006.12:143461571:G:
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000055/7 (GnomAD)
HGVS:: NC_000006.12:g.143461572del, NC_000006.11:g.143782709del, NG_008459.1:g.15792del

Select item 148997089317.

rs1489970893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:143479653 (GRCh38)
6:143800790 (GRCh37)
Canonical SPDI:: NC_000006.12:143479652:A:G
Gene:: PEX3 (Varview)
Functional Consequence:: intron_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_000006.12:g.143479653A>G, NC_000006.11:g.143800790A>G, NG_008459.1:g.33873A>G

Select item 148978775518.

rs1489787755 has merged into rs903485626 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 6:143489439 (GRCh38)
6:143810576 (GRCh37)
Canonical SPDI:: NC_000006.12:143489431:ATATATATATA:ATATATA,NC_000006.12:143489431:ATATATATATA:ATATATATA,NC_000006.12:143489431:ATATATATATA:ATATATATATATA
Gene:: PEX3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
AT=0.000204/54 (TOPMED)
HGVS:: NC_000006.12:g.143489433TA[3], NC_000006.12:g.143489433TA[4], NC_000006.12:g.143489433TA[6], NC_000006.11:g.143810570TA[3], NC_000006.11:g.143810570TA[4], NC_000006.11:g.143810570TA[6], NG_008459.1:g.43653TA[3], NG_008459.1:g.43653TA[4], NG_008459.1:g.43653TA[6], NM_003630.3:c.*207TA[3], NM_003630.3:c.*207TA[4], NM_003630.3:c.*207TA[6], NM_003630.2:c.*207TA[3], NM_003630.2:c.*207TA[4], NM_003630.2:c.*207TA[6]

Select item 148933079319.

rs1489330793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:143464884 (GRCh38)
6:143786021 (GRCh37)
Canonical SPDI:: NC_000006.12:143464883:T:A
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.143464884T>A, NC_000006.11:g.143786021T>A, NG_008459.1:g.19104T>A

Select item 148918574120.

rs1489185741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:143472684 (GRCh38)
6:143793821 (GRCh37)
Canonical SPDI:: NC_000006.12:143472683:A:G,NC_000006.12:143472683:A:T
Gene:: PEX3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.143472684A>G, NC_000006.12:g.143472684A>T, NC_000006.11:g.143793821A>G, NC_000006.11:g.143793821A>T, NG_008459.1:g.26904A>G, NG_008459.1:g.26904A>T

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