SNP Links for Gene (Select 4729) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14914230331.

rs1491423033 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:9104681 (GRCh38)
18:9104680 (GRCh37)
Canonical SPDI:: NC_000018.10:9104681:C:CC
Gene:: NDUFV2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.9104682dup, NC_000018.9:g.9104680dup, NG_013355.1:g.7053dup

Select item 14913273592.

rs1491327359 has merged into rs1369955901 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TC,TCTCTC [Show Flanks]
Chromosome:: 18:9104687 (GRCh38)
18:9104685 (GRCh37)
Canonical SPDI:: NC_000018.10:9104680:TCTCTCTCTC:TCTCTC,NC_000018.10:9104680:TCTCTCTCTC:TCTCTCTC,NC_000018.10:9104680:TCTCTCTCTC:TCTCTCTCTCTC
Gene:: NDUFV2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTC=0./0 (ALFA)
-=0.00025/4 (TOMMO)
-=0.00328/6 (Korea1K)
HGVS:: NC_000018.10:g.9104681TC[3], NC_000018.10:g.9104681TC[4], NC_000018.10:g.9104681TC[6], NC_000018.9:g.9104679TC[3], NC_000018.9:g.9104679TC[4], NC_000018.9:g.9104679TC[6], NG_013355.1:g.7052TC[3], NG_013355.1:g.7052TC[4], NG_013355.1:g.7052TC[6]

Select item 14912582833.

rs1491258283 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 18:9134777 (GRCh38)
18:9134775 (GRCh37)
Canonical SPDI:: NC_000018.10:9134776:TG:
Gene:: NDUFV2 (Varview), NDUFV2-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000018.10:g.9134777_9134778del, NC_000018.9:g.9134775_9134776del, NG_047134.1:g.3025_3026del, NG_013355.1:g.37148_37149del

Select item 14911341974.

rs1491134197 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:9128527 (GRCh38)
18:9128525 (GRCh37)
Canonical SPDI:: NC_000018.10:9128526:CT:
Gene:: NDUFV2 (Varview), NDUFV2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000018.10:g.9128527_9128528del, NC_000018.9:g.9128525_9128526del, NG_013355.1:g.30898_30899del

Select item 14911334205.

rs1491133420 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:9108689 (GRCh38)
18:9108687 (GRCh37)
Canonical SPDI:: NC_000018.10:9108688:AT:
Gene:: NDUFV2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000018.10:g.9108689_9108690del, NC_000018.9:g.9108687_9108688del, NG_013355.1:g.11060_11061del

Select item 14909638986.

rs1490963898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:9123540 (GRCh38)
18:9123538 (GRCh37)
Canonical SPDI:: NC_000018.10:9123539:C:T
Gene:: NDUFV2 (Varview), NDUFV2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000018.10:g.9123540C>T, NC_000018.9:g.9123538C>T, NG_013355.1:g.25911C>T

Select item 14909158697.

rs1490915869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:9123467 (GRCh38)
18:9123465 (GRCh37)
Canonical SPDI:: NC_000018.10:9123466:A:C,NC_000018.10:9123466:A:G
Gene:: NDUFV2 (Varview), NDUFV2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.9123467A>C, NC_000018.10:g.9123467A>G, NC_000018.9:g.9123465A>C, NC_000018.9:g.9123465A>G, NG_013355.1:g.25838A>C, NG_013355.1:g.25838A>G

Select item 14907696598.

rs1490769659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:9109008 (GRCh38)
18:9109006 (GRCh37)
Canonical SPDI:: NC_000018.10:9109007:T:G
Gene:: NDUFV2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.9109008T>G, NC_000018.9:g.9109006T>G, NG_013355.1:g.11379T>G

Select item 14906093239.

rs1490609323 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:9132342 (GRCh38)
18:9132340 (GRCh37)
Canonical SPDI:: NC_000018.10:9132341:T:A
Gene:: NDUFV2 (Varview), NDUFV2-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000018.10:g.9132342T>A, NC_000018.9:g.9132340T>A, NG_047134.1:g.590T>A, NG_013355.1:g.34713T>A, NR_110771.1:n.534A>T

Select item 149042685110.

rs1490426851 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACT>- [Show Flanks]
Chromosome:: 18:9100695 (GRCh38)
18:9100693 (GRCh37)
Canonical SPDI:: NC_000018.10:9100692:CTACT:CT
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.9100695_9100697del, NC_000018.9:g.9100693_9100695del, NG_013355.1:g.3066_3068del

Select item 149039496111.

rs1490394961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:9131338 (GRCh38)
18:9131336 (GRCh37)
Canonical SPDI:: NC_000018.10:9131337:G:C
Gene:: NDUFV2 (Varview), NDUFV2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.9131338G>C, NC_000018.9:g.9131336G>C, NG_013355.1:g.33709G>C

Select item 149037510312.

rs1490375103 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:9101548 (GRCh38)
18:9101546 (GRCh37)
Canonical SPDI:: NC_000018.10:9101547:C:T
Gene:: NDUFV2 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000018.10:g.9101548C>T, NC_000018.9:g.9101546C>T, NG_013355.1:g.3919C>T

Select item 149021185513.

rs1490211855 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:9102100 (GRCh38)
18:9102098 (GRCh37)
Canonical SPDI:: NC_000018.10:9102099:T:C
Gene:: NDUFV2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.9102100T>C, NC_000018.9:g.9102098T>C, NG_013355.1:g.4471T>C

Select item 149009794414.

rs1490097944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:9123895 (GRCh38)
18:9123893 (GRCh37)
Canonical SPDI:: NC_000018.10:9123894:G:A
Gene:: NDUFV2 (Varview), NDUFV2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.9123895G>A, NC_000018.9:g.9123893G>A, NG_013355.1:g.26266G>A

Select item 149007259115.

rs1490072591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:9123833 (GRCh38)
18:9123831 (GRCh37)
Canonical SPDI:: NC_000018.10:9123832:C:T
Gene:: NDUFV2 (Varview), NDUFV2-AS1 (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_000018.10:g.9123833C>T, NC_000018.9:g.9123831C>T, NG_013355.1:g.26204C>T

Select item 149004757316.

rs1490047573 has merged into rs1240577530 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 18:9124639 (GRCh38)
18:9124637 (GRCh37)
Canonical SPDI:: NC_000018.10:9124638:GGGG:GGG,NC_000018.10:9124638:GGGG:GGGGG
Gene:: NDUFV2 (Varview), NDUFV2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000018.10:g.9124642del, NC_000018.10:g.9124642dup, NC_000018.9:g.9124640del, NC_000018.9:g.9124640dup, NG_013355.1:g.27013del, NG_013355.1:g.27013dup

Select item 148993142517.

rs1489931425 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGT>- [Show Flanks]
Chromosome:: 18:9109124 (GRCh38)
18:9109122 (GRCh37)
Canonical SPDI:: NC_000018.10:9109120:TGTTGT:TGT
Gene:: NDUFV2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTGT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000018.10:g.9109121TGT[1], NC_000018.9:g.9109119TGT[1], NG_013355.1:g.11492TGT[1]

Select item 148985975118.

rs1489859751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:9111358 (GRCh38)
18:9111356 (GRCh37)
Canonical SPDI:: NC_000018.10:9111357:A:G
Gene:: NDUFV2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.9111358A>G, NC_000018.9:g.9111356A>G, NG_013355.1:g.13729A>G

Select item 148982617219.

rs1489826172 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 18:9108909 (GRCh38)
18:9108907 (GRCh37)
Canonical SPDI:: NC_000018.10:9108906:TCTC:TC
Gene:: NDUFV2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.9108907TC[1], NC_000018.9:g.9108905TC[1], NG_013355.1:g.11278TC[1]

Select item 148980275820.

rs1489802758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 18:9126693 (GRCh38)
18:9126691 (GRCh37)
Canonical SPDI:: NC_000018.10:9126692:G:C
Gene:: NDUFV2 (Varview), NDUFV2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000018.10:g.9126693G>C, NC_000018.9:g.9126691G>C, NG_013355.1:g.29064G>C

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity