SNP Links for Nucleotide (Select 985801734) - SNP

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Links from Nucleotide

Items: 1 to 20 of 68

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Select item 14902406581.

rs1490240658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:156621921 (GRCh38)
1:156591713 (GRCh37)
Canonical SPDI:: NC_000001.11:156621920:G:C
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.156621921G>C, NC_000001.10:g.156591713G>C, NW_025791758.1:g.180480G>C, NR_135113.1:n.8C>G

Select item 14864419862.

rs1486441986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156614907 (GRCh38)
1:156584699 (GRCh37)
Canonical SPDI:: NC_000001.11:156614906:A:G
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.156614907A>G, NC_000001.10:g.156584699A>G, NW_025791758.1:g.173466A>G, NR_135113.1:n.220T>C

Select item 14602815873.

rs1460281587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156614762 (GRCh38)
1:156584554 (GRCh37)
Canonical SPDI:: NC_000001.11:156614761:A:G
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156614762A>G, NC_000001.10:g.156584554A>G, NW_025791758.1:g.173321A>G, NR_135113.1:n.365T>C

Select item 14543417384.

rs1454341738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:156614853 (GRCh38)
1:156584645 (GRCh37)
Canonical SPDI:: NC_000001.11:156614852:G:T
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_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_000001.11:g.156614853G>T, NC_000001.10:g.156584645G>T, NW_025791758.1:g.173412G>T, NR_135113.1:n.274C>A

Select item 14431066745.

rs1443106674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:156614933 (GRCh38)
1:156584725 (GRCh37)
Canonical SPDI:: NC_000001.11:156614932:T:C
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156614933T>C, NC_000001.10:g.156584725T>C, NW_025791758.1:g.173492T>C, NR_135113.1:n.194A>G

Select item 14391838836.

rs1439183883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156614897 (GRCh38)
1:156584689 (GRCh37)
Canonical SPDI:: NC_000001.11:156614896:A:G
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,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_000001.11:g.156614897A>G, NC_000001.10:g.156584689A>G, NW_025791758.1:g.173456A>G, NR_135113.1:n.230T>C

Select item 14190982867.

rs1419098286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:156615039 (GRCh38)
1:156584831 (GRCh37)
Canonical SPDI:: NC_000001.11:156615038:A:G
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.156615039A>G, NC_000001.10:g.156584831A>G, NW_025791758.1:g.173598A>G, NR_135113.1:n.88T>C

Select item 14172842948.

rs1417284294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156621904 (GRCh38)
1:156591696 (GRCh37)
Canonical SPDI:: NC_000001.11:156621903:C:T
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156621904C>T, NC_000001.10:g.156591696C>T, NW_025791758.1:g.180463C>T, NR_135113.1:n.25G>A

Select item 14036508459.

rs1403650845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:156614855 (GRCh38)
1:156584647 (GRCh37)
Canonical SPDI:: NC_000001.11:156614854:G:A,NC_000001.11:156614854:G:T
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_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_000001.11:g.156614855G>A, NC_000001.11:g.156614855G>T, NC_000001.10:g.156584647G>A, NC_000001.10:g.156584647G>T, NW_025791758.1:g.173414G>A, NW_025791758.1:g.173414G>T, NR_135113.1:n.272C>T, NR_135113.1:n.272C>A

Select item 140157027810.

rs1401570278 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:156614862 (GRCh38)
1:156584654 (GRCh37)
Canonical SPDI:: NC_000001.11:156614861:T:A
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156614862T>A, NC_000001.10:g.156584654T>A, NW_025791758.1:g.173421T>A, NR_135113.1:n.265A>T

Select item 139469014111.

rs1394690141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156615059 (GRCh38)
1:156584851 (GRCh37)
Canonical SPDI:: NC_000001.11:156615058:G:A
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156615059G>A, NC_000001.10:g.156584851G>A, NW_025791758.1:g.173618G>A, NR_135113.1:n.68C>T

Select item 138427727012.

rs1384277270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:156621887 (GRCh38)
1:156591679 (GRCh37)
Canonical SPDI:: NC_000001.11:156621886:T:G
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000001.11:g.156621887T>G, NC_000001.10:g.156591679T>G, NW_025791758.1:g.180446T>G, NR_135113.1:n.42A>C

Select item 138157946413.

rs1381579464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:156621885 (GRCh38)
1:156591677 (GRCh37)
Canonical SPDI:: NC_000001.11:156621884:G:A
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.156621885G>A, NC_000001.10:g.156591677G>A, NW_025791758.1:g.180444G>A, NR_135113.1:n.44C>T

Select item 137613713514.

rs1376137135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:156614842 (GRCh38)
1:156584634 (GRCh37)
Canonical SPDI:: NC_000001.11:156614841:C:G,NC_000001.11:156614841:C:T
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.156614842C>G, NC_000001.11:g.156614842C>T, NC_000001.10:g.156584634C>G, NC_000001.10:g.156584634C>T, NW_025791758.1:g.173401C>G, NW_025791758.1:g.173401C>T, NR_135113.1:n.285G>C, NR_135113.1:n.285G>A

Select item 137517392815.

rs1375173928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156615055 (GRCh38)
1:156584847 (GRCh37)
Canonical SPDI:: NC_000001.11:156615054:C:T
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.156615055C>T, NC_000001.10:g.156584847C>T, NW_025791758.1:g.173614C>T, NR_135113.1:n.72G>A

Select item 136431205016.

rs1364312050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:156614979 (GRCh38)
1:156584771 (GRCh37)
Canonical SPDI:: NC_000001.11:156614978:G:A,NC_000001.11:156614978:G:T
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156614979G>A, NC_000001.11:g.156614979G>T, NC_000001.10:g.156584771G>A, NC_000001.10:g.156584771G>T, NW_025791758.1:g.173538G>A, NW_025791758.1:g.173538G>T, NR_135113.1:n.148C>T, NR_135113.1:n.148C>A

Select item 135527146717.

rs1355271467 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:156614772 (GRCh38)
1:156584564 (GRCh37)
Canonical SPDI:: NC_000001.11:156614770:GAG:G
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.156614772_156614773del, NC_000001.10:g.156584564_156584565del, NW_025791758.1:g.173331_173332del, NR_135113.1:n.355_356del

Select item 135075327418.

rs1350753274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:156614802 (GRCh38)
1:156584594 (GRCh37)
Canonical SPDI:: NC_000001.11:156614801:C:T
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.156614802C>T, NC_000001.10:g.156584594C>T, NW_025791758.1:g.173361C>T, NR_135113.1:n.325G>A

Select item 133373663819.

rs1333736638 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:156614860 (GRCh38)
1:156584652 (GRCh37)
Canonical SPDI:: NC_000001.11:156614859:G:
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.156614860del, NC_000001.10:g.156584652del, NW_025791758.1:g.173419del, NR_135113.1:n.267del

Select item 132491926320.

rs1324919263 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:156614744 (GRCh38)
1:156584536 (GRCh37)
Canonical SPDI:: NC_000001.11:156614742:ACA:A
Gene:: HAPLN2 (Varview), LOC101928177 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.156614744_156614745del, NC_000001.10:g.156584536_156584537del, NW_025791758.1:g.173303_173304del, NR_135113.1:n.383_384del