SNP Links for Gene (Select 8365) - SNP

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Select item 14914866671.

rs1491486667 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:26286213 (GRCh38)
6:26286442 (GRCh37)
Canonical SPDI:: NC_000006.12:26286213::G
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00006/2 (GnomAD)
G=0.00057/1 (TOMMO)
G=0.00987/3 (Korea1K)
HGVS:: NC_000006.12:g.26286213_26286214insG, NC_000006.11:g.26286441_26286442insG

Select item 14913931392.

rs1491393139 has merged into rs58812262 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 6:26286222 (GRCh38)
6:26286450 (GRCh37)
Canonical SPDI:: NC_000006.12:26286212:TTTTTTTTTTT:TTTTTTTTT,NC_000006.12:26286212:TTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:26286212:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:26286212:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:26286212:TTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.3822/227 (NorthernSweden)
T=0.3966/1986 (1000Genomes)
T=0.45/18 (GENOME_DK)
HGVS:: NC_000006.12:g.26286222_26286223del, NC_000006.12:g.26286223del, NC_000006.12:g.26286223dup, NC_000006.12:g.26286222_26286223dup, NC_000006.12:g.26286221_26286223dup, NC_000006.11:g.26286450_26286451del, NC_000006.11:g.26286451del, NC_000006.11:g.26286451dup, NC_000006.11:g.26286450_26286451dup, NC_000006.11:g.26286449_26286451dup

Select item 14913648473.

rs1491364847 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:26286602 (GRCh38)
6:26286830 (GRCh37)
Canonical SPDI:: NC_000006.12:26286601:CT:
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000006.12:g.26286602_26286603del, NC_000006.11:g.26286830_26286831del

Select item 14911309954.

rs1491130995 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:26286613 (GRCh38)
6:26286841 (GRCh37)
Canonical SPDI:: NC_000006.12:26286610:TCTC:TC
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0./0 (ALFA)
-=0.004769/479 (GnomAD)
-=0.008812/53 (TOMMO)
-=0.136731/507 (TWINSUK)
-=0.141412/545 (ALSPAC)
HGVS:: NC_000006.12:g.26286611TC[1], NC_000006.11:g.26286839TC[1]

Select item 14906360325.

rs1490636032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:26285054 (GRCh38)
6:26285282 (GRCh37)
Canonical SPDI:: NC_000006.12:26285053:A:C,NC_000006.12:26285053:A:G
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.26285054A>C, NC_000006.12:g.26285054A>G, NC_000006.11:g.26285282A>C, NC_000006.11:g.26285282A>G

Select item 14901672356.

rs1490167235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26284792 (GRCh38)
6:26285020 (GRCh37)
Canonical SPDI:: NC_000006.12:26284791:T:C
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000006.12:g.26284792T>C, NC_000006.11:g.26285020T>C

Select item 14900588947.

rs1490058894 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:26284873 (GRCh38)
6:26285101 (GRCh37)
Canonical SPDI:: NC_000006.12:26284871:TGT:T
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.26284873_26284874del, NC_000006.11:g.26285101_26285102del

Select item 14894122118.

rs1489412211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26285350 (GRCh38)
6:26285578 (GRCh37)
Canonical SPDI:: NC_000006.12:26285349:A:G
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26285350A>G, NC_000006.11:g.26285578A>G, NM_003543.4:c.150T>C, NM_003543.3:c.150T>C

Select item 14880880199.

rs1488088019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:26285882 (GRCh38)
6:26286110 (GRCh37)
Canonical SPDI:: NC_000006.12:26285881:C:G,NC_000006.12:26285881:C:T
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.26285882C>G, NC_000006.12:g.26285882C>T, NC_000006.11:g.26286110C>G, NC_000006.11:g.26286110C>T, XR_007059520.1:n.203C>G, XR_007059520.1:n.203C>T

Select item 148803576110.

rs1488035761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:26287434 (GRCh38)
6:26287662 (GRCh37)
Canonical SPDI:: NC_000006.12:26287433:C:G
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26287434C>G, NC_000006.11:g.26287662C>G

Select item 148669844111.

rs1486698441 [Homo sapiens]

Variant type:: DEL
Alleles:: ATCTAGTGTTAAAATGCCACAA>- [Show Flanks]
Chromosome:: 6:26284898 (GRCh38)
6:26285126 (GRCh37)
Canonical SPDI:: NC_000006.12:26284897:ATCTAGTGTTAAAATGCCACAA:
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_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.26284898_26284919del, NC_000006.11:g.26285126_26285147del

Select item 148652038612.

rs1486520386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:26286246 (GRCh38)
6:26286474 (GRCh37)
Canonical SPDI:: NC_000006.12:26286245:C:G,NC_000006.12:26286245:C:T
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26286246C>G, NC_000006.12:g.26286246C>T, NC_000006.11:g.26286474C>G, NC_000006.11:g.26286474C>T

Select item 148614353413.

rs1486143534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26286584 (GRCh38)
6:26286812 (GRCh37)
Canonical SPDI:: NC_000006.12:26286583:A:G
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
G=0.000026/7 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.26286584A>G, NC_000006.11:g.26286812A>G

Select item 148607531414.

rs1486075314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:26285308 (GRCh38)
6:26285536 (GRCh37)
Canonical SPDI:: NC_000006.12:26285307:C:T
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.26285308C>T, NC_000006.11:g.26285536C>T, NM_003543.4:c.192G>A, NM_003543.3:c.192G>A

Select item 148542364415.

rs1485423644 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:26287156 (GRCh38)
6:26287385 (GRCh37)
Canonical SPDI:: NC_000006.12:26287156:TTTTT:TTTTTT
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTT=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.26287161dup, NC_000006.11:g.26287389dup

Select item 148516900116.

rs1485169001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26286779 (GRCh38)
6:26287007 (GRCh37)
Canonical SPDI:: NC_000006.12:26286778:G:A
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26286779G>A, NC_000006.11:g.26287007G>A

Select item 148432966217.

rs1484329662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:26285012 (GRCh38)
6:26285240 (GRCh37)
Canonical SPDI:: NC_000006.12:26285011:A:T
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_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_000006.12:g.26285012A>T, NC_000006.11:g.26285240A>T

Select item 148400245318.

rs1484002453 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG [Show Flanks]
Chromosome:: 6:26285638 (GRCh38)
6:26285867 (GRCh37)
Canonical SPDI:: NC_000006.12:26285638::TG
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TG=0.0002/1 (ALFA)
TG=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.26285638_26285639insTG, NC_000006.11:g.26285866_26285867insTG

Select item 148322748119.

rs1483227481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:26285915 (GRCh38)
6:26286143 (GRCh37)
Canonical SPDI:: NC_000006.12:26285914:G:C
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26285915G>C, NC_000006.11:g.26286143G>C, XR_007059520.1:n.236G>C

Select item 148277051320.

rs1482770513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 6:26285356 (GRCh38)
6:26285584 (GRCh37)
Canonical SPDI:: NC_000006.12:26285355:A:C,NC_000006.12:26285355:A:G,NC_000006.12:26285355:A:T
Gene:: H4C8 (Varview), LOC124901287 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.26285356A>C, NC_000006.12:g.26285356A>G, NC_000006.12:g.26285356A>T, NC_000006.11:g.26285584A>C, NC_000006.11:g.26285584A>G, NC_000006.11:g.26285584A>T, NM_003543.4:c.144T>G, NM_003543.4:c.144T>C, NM_003543.4:c.144T>A, NM_003543.3:c.144T>G, NM_003543.3:c.144T>C, NM_003543.3:c.144T>A

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