SNP Links for Gene (Select 653361) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74781563 (GRCh38)
7:74195909 (GRCh37)
Canonical SPDI:: NC_000007.14:74781562:C:T
Gene:: NCF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000051/7 (GnomAD)
HGVS:: NC_000007.14:g.74781563C>T, NW_003871064.1:g.2310799C>T, NG_009078.2:g.12600C>T, NG_042249.1:g.47727C>T, NC_000007.13:g.74195909C>T

Select item 14899974539.

rs1489997453 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 7:74781266 (GRCh38)
7:74195612 (GRCh37)
Canonical SPDI:: NC_000007.14:74781265:G:
Gene:: NCF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00017/4 (TOMMO)
-=0.00112/2 (Korea1K)
HGVS:: NC_000007.14:g.74781266del, NW_003871064.1:g.2310502del, NG_009078.2:g.12303del, NG_042249.1:g.47430del, NC_000007.13:g.74195612del

Select item 148975399310.

rs1489753993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:74772851 (GRCh38)
7:74187198 (GRCh37)
Canonical SPDI:: NC_000007.14:74772850:C:G,NC_000007.14:74772850:C:T
Gene:: NCF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.74772851C>G, NC_000007.14:g.74772851C>T, NW_003871064.1:g.2302087C>G, NW_003871064.1:g.2302087C>T, NG_009078.2:g.3888C>G, NG_009078.2:g.3888C>T, NG_042249.1:g.39015C>G, NG_042249.1:g.39015C>T, NC_000007.13:g.74187198C>G, NC_000007.13:g.74187198C>T

Select item 148957838111.

rs1489578381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74778761 (GRCh38)
7:74193107 (GRCh37)
Canonical SPDI:: NC_000007.14:74778760:G:A
Gene:: NCF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000184/3 (ALFA)
A=0.000061/7 (GnomAD)
HGVS:: NC_000007.14:g.74778761G>A, NW_003871064.1:g.2307997G>A, NG_009078.2:g.9798G>A, NG_042249.1:g.44925G>A, NC_000007.13:g.74193107G>A

Select item 148957501912.

rs1489575019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74788678 (GRCh38)
7:74203022 (GRCh37)
Canonical SPDI:: NC_000007.14:74788677:G:A
Gene:: NCF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000072/10 (GnomAD)
HGVS:: NC_000007.14:g.74788678G>A, NW_003871064.1:g.2317914G>A, NG_009078.2:g.19715G>A, NM_000265.7:c.1025G>A, NM_000265.6:c.1025G>A, NM_000265.5:c.1025G>A, NG_042249.1:g.54842G>A, NC_000007.13:g.74203022G>A, NP_000256.4:p.Gly342Glu

Select item 148944446613.

rs1489444466 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 7:74779921 (GRCh38)
7:74194267 (GRCh37)
Canonical SPDI:: NC_000007.14:74779920:TT:T
Gene:: NCF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000007.14:g.74779922del, NW_003871064.1:g.2309158del, NG_009078.2:g.10959del, NG_042249.1:g.46086del, NC_000007.13:g.74194268del

Select item 148921206514.

rs1489212065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:74789084 (GRCh38)
7:74203428 (GRCh37)
Canonical SPDI:: NC_000007.14:74789083:C:A
Gene:: NCF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.74789084C>A, NW_003871064.1:g.2318320C>A, NG_009078.2:g.20121C>A, NM_000265.7:c.1097C>A, NM_000265.6:c.1097C>A, NM_000265.5:c.1097C>A, NG_042249.1:g.55248C>A, NC_000007.13:g.74203428C>A, NP_000256.4:p.Pro366His

Select item 148920120815.

rs1489201208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74785283 (GRCh38)
7:74199629 (GRCh37)
Canonical SPDI:: NC_000007.14:74785282:G:A
Gene:: NCF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.74785283G>A, NW_003871064.1:g.2314519G>A, NG_009078.2:g.16320G>A, NM_000265.7:c.784G>A, NM_000265.6:c.784G>A, NM_000265.5:c.784G>A, NG_042249.1:g.51447G>A, NC_000007.13:g.74199629G>A, NP_000256.4:p.Gly262Ser

Select item 148917085716.

rs1489170857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:74783701 (GRCh38)
7:74198044 (GRCh37)
Canonical SPDI:: NC_000007.14:74783700:T:G
Gene:: NCF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.74783701T>G, NW_003871064.1:g.2312937T>G, NG_009078.2:g.14738T>G, NG_042249.1:g.49865T>G, NC_000007.13:g.74198044T>G

Select item 148901587817.

rs1489015878 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:74788150 (GRCh38)
7:74202494 (GRCh37)
Canonical SPDI:: NC_000007.14:74788149:C:
Gene:: NCF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74788150del, NW_003871064.1:g.2317386del, NG_009078.2:g.19187del, NG_042249.1:g.54314del, NC_000007.13:g.74202494del

Select item 148888631018.

rs1488886310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:74789711 (GRCh38)
7:74204055 (GRCh37)
Canonical SPDI:: NC_000007.14:74789710:A:T
Gene:: NCF1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.74789711A>T, NW_003871064.1:g.2318947A>T, NG_009078.2:g.20748A>T, NG_042249.1:g.55875A>T, NC_000007.13:g.74204055A>T

Select item 148823911919.

rs1488239119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:74788756 (GRCh38)
7:74203100 (GRCh37)
Canonical SPDI:: NC_000007.14:74788755:C:A,NC_000007.14:74788755:C:T
Gene:: NCF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74788756C>A, NC_000007.14:g.74788756C>T, NW_003871064.1:g.2317992C>A, NW_003871064.1:g.2317992C>T, NG_009078.2:g.19793C>A, NG_009078.2:g.19793C>T, NG_042249.1:g.54920C>A, NG_042249.1:g.54920C>T, NC_000007.13:g.74203100C>A, NC_000007.13:g.74203100C>T

Select item 148808781520.

rs1488087815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74787656 (GRCh38)
7:74202000 (GRCh37)
Canonical SPDI:: NC_000007.14:74787655:G:A
Gene:: NCF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000007.14:g.74787656G>A, NW_003871064.1:g.2316892G>A, NG_009078.2:g.18693G>A, NG_042249.1:g.53820G>A, NC_000007.13:g.74202000G>A

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