SNP Links for Gene (Select 92345) - SNP

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Select item 14915607151.

rs1491560715 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 4:163161470 (GRCh38)
4:164082622 (GRCh37)
Canonical SPDI:: NC_000004.12:163161469:CCCCCC:CCCCC,NC_000004.12:163161469:CCCCCC:CCCCCCC
Gene:: NAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000015/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.163161475del, NC_000004.12:g.163161475dup, NC_000004.11:g.164082627del, NC_000004.11:g.164082627dup

Select item 14915442712.

rs1491544271 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:163136344 (GRCh38)
4:164057497 (GRCh37)
Canonical SPDI:: NC_000004.12:163136344::C
Gene:: NAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00236/28 (ALFA)
C=0.000354/6 (TOMMO)
C=0.00349/442 (GnomAD)
C=0.010929/20 (Korea1K)
HGVS:: NC_000004.12:g.163136344_163136345insC, NC_000004.11:g.164057496_164057497insC

Select item 14913683033.

rs1491368303 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:163113372 (GRCh38)
4:164034524 (GRCh37)
Canonical SPDI:: NC_000004.12:163113370:TGT:T
Gene:: NAF1 (Varview), LOC101928081 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00152/18 (ALFA)
HGVS:: NC_000004.12:g.163113372_163113373del, NC_000004.11:g.164034524_164034525del

Select item 14913195514.

rs1491319551 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:163113371 (GRCh38)
4:164034524 (GRCh37)
Canonical SPDI:: NC_000004.12:163113371:G:GG
Gene:: NAF1 (Varview), LOC101928081 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.163113372dup, NC_000004.11:g.164034524dup

Select item 14912800145.

rs1491280014 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 4:163117719 (GRCh38)
4:164038871 (GRCh37)
Canonical SPDI:: NC_000004.12:163117717:CGC:C,NC_000004.12:163117717:CGC:CGCGC
Gene:: NAF1 (Varview), LOC101928081 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGC=0./0 (ALFA)
HGVS:: NC_000004.12:g.163117719_163117720del, NC_000004.12:g.163117719_163117720dup, NC_000004.11:g.164038871_164038872del, NC_000004.11:g.164038871_164038872dup

Select item 14911767156.

rs1491176715 has merged into rs11353573 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 4:163109171 (GRCh38)
4:164030323 (GRCh37)
Canonical SPDI:: NC_000004.12:163109160:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:163109160:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:163109160:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:163109160:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:163109160:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:163109160:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:163109160:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:163109160:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: NAF1 (Varview), LOC101928081 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.3588/1797 (1000Genomes)
HGVS:: NC_000004.12:g.163109171_163109176del, NC_000004.12:g.163109172_163109176del, NC_000004.12:g.163109173_163109176del, NC_000004.12:g.163109174_163109176del, NC_000004.12:g.163109175_163109176del, NC_000004.12:g.163109176del, NC_000004.12:g.163109176dup, NC_000004.12:g.163109175_163109176dup, NC_000004.11:g.164030323_164030328del, NC_000004.11:g.164030324_164030328del, NC_000004.11:g.164030325_164030328del, NC_000004.11:g.164030326_164030328del, NC_000004.11:g.164030327_164030328del, NC_000004.11:g.164030328del, NC_000004.11:g.164030328dup, NC_000004.11:g.164030327_164030328dup, XR_938798.4:n.2929_2934del, XR_938798.4:n.2930_2934del, XR_938798.4:n.2931_2934del, XR_938798.4:n.2932_2934del, XR_938798.4:n.2933_2934del, XR_938798.4:n.2934del, XR_938798.4:n.2934dup, XR_938798.4:n.2933_2934dup, XR_938798.2:n.6427_6432del, XR_938798.2:n.6428_6432del, XR_938798.2:n.6429_6432del, XR_938798.2:n.6430_6432del, XR_938798.2:n.6431_6432del, XR_938798.2:n.6432del, XR_938798.2:n.6432dup, XR_938798.2:n.6431_6432dup, XR_938799.4:n.2872_2877del, XR_938799.4:n.2873_2877del, XR_938799.4:n.2874_2877del, XR_938799.4:n.2875_2877del, XR_938799.4:n.2876_2877del, XR_938799.4:n.2877del, XR_938799.4:n.2877dup, XR_938799.4:n.2876_2877dup, XR_938799.3:n.2892_2897del, XR_938799.3:n.2893_2897del, XR_938799.3:n.2894_2897del, XR_938799.3:n.2895_2897del, XR_938799.3:n.2896_2897del, XR_938799.3:n.2897del, XR_938799.3:n.2897dup, XR_938799.3:n.2896_2897dup, XR_938799.2:n.6370_6375del, XR_938799.2:n.6371_6375del, XR_938799.2:n.6372_6375del, XR_938799.2:n.6373_6375del, XR_938799.2:n.6374_6375del, XR_938799.2:n.6375del, XR_938799.2:n.6375dup, XR_938799.2:n.6374_6375dup, XR_938799.1:n.2872_2877del, XR_938799.1:n.2873_2877del, XR_938799.1:n.2874_2877del, XR_938799.1:n.2875_2877del, XR_938799.1:n.2876_2877del, XR_938799.1:n.2877del, XR_938799.1:n.2877dup, XR_938799.1:n.2876_2877dup, XR_001741349.3:n.4339_4344del, XR_001741349.3:n.4340_4344del, XR_001741349.3:n.4341_4344del, XR_001741349.3:n.4342_4344del, XR_001741349.3:n.4343_4344del, XR_001741349.3:n.4344del, XR_001741349.3:n.4344dup, XR_001741349.3:n.4343_4344dup, XR_001741349.1:n.7837_7842del, XR_001741349.1:n.7838_7842del, XR_001741349.1:n.7839_7842del, XR_001741349.1:n.7840_7842del, XR_001741349.1:n.7841_7842del, XR_001741349.1:n.7842del, XR_001741349.1:n.7842dup, XR_001741349.1:n.7841_7842dup, XR_001741350.3:n.4197_4202del, XR_001741350.3:n.4198_4202del, XR_001741350.3:n.4199_4202del, XR_001741350.3:n.4200_4202del, XR_001741350.3:n.4201_4202del, XR_001741350.3:n.4202del, XR_001741350.3:n.4202dup, XR_001741350.3:n.4201_4202dup, XR_001741350.1:n.7695_7700del, XR_001741350.1:n.7696_7700del, XR_001741350.1:n.7697_7700del, XR_001741350.1:n.7698_7700del, XR_001741350.1:n.7699_7700del, XR_001741350.1:n.7700del, XR_001741350.1:n.7700dup, XR_001741350.1:n.7699_7700dup

Select item 14911481007.

rs1491148100 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:163109160 (GRCh38)
4:164030312 (GRCh37)
Canonical SPDI:: NC_000004.12:163109159:CT:
Gene:: NAF1 (Varview), LOC101928081 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000004.12:g.163109160_163109161del, NC_000004.11:g.164030312_164030313del, XR_938798.4:n.2934_2935del, XR_938798.2:n.6432_6433del, XR_938799.4:n.2877_2878del, XR_938799.3:n.2897_2898del, XR_938799.2:n.6375_6376del, XR_938799.1:n.2877_2878del, XR_001741349.3:n.4344_4345del, XR_001741349.1:n.7842_7843del, XR_001741350.3:n.4202_4203del, XR_001741350.1:n.7700_7701del

Select item 14910874368.

rs1491087436 has merged into rs74353715 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 4:163113611 (GRCh38)
4:164034763 (GRCh37)
Canonical SPDI:: NC_000004.12:163113607:TGTGT:TGT,NC_000004.12:163113607:TGTGT:TGTGTGT
Gene:: NAF1 (Varview), LOC101928081 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0.32431/1654 (ALFA)
-=0.1545/2590 (TOMMO)
-=0.19432/356 (Korea1K)
-=0.2/8 (GENOME_DK)
-=0.20706/1037 (1000Genomes)
-=0.21343/213 (GoNL)
-=0.22411/831 (TWINSUK)
-=0.2308/1034 (Estonian)
-=0.23378/901 (ALSPAC)
-=0.245/147 (NorthernSweden)
HGVS:: NC_000004.12:g.163113609GT[1], NC_000004.12:g.163113609GT[3], NC_000004.11:g.164034761GT[1], NC_000004.11:g.164034761GT[3]

Select item 14909871639.

rs1490987163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:163164350 (GRCh38)
4:164085502 (GRCh37)
Canonical SPDI:: NC_000004.12:163164349:G:A
Gene:: NAF1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.163164350G>A, NC_000004.11:g.164085502G>A, XR_938798.4:n.570C>T, XR_938798.3:n.590C>T, XR_938798.2:n.4068C>T, XR_938798.1:n.570C>T, XR_938799.4:n.570C>T, XR_938799.3:n.590C>T, XR_938799.2:n.4068C>T, XR_938799.1:n.570C>T, XM_011532410.4:c.407C>T, XM_011532410.3:c.407C>T, XM_011532410.2:c.407C>T, XM_011532410.1:c.407C>T, XR_001741349.3:n.570C>T, XR_001741349.2:n.590C>T, XR_001741349.1:n.4068C>T, XR_001741350.3:n.570C>T, XR_001741350.2:n.590C>T, XR_001741350.1:n.4068C>T, NM_138386.3:c.407C>T, NM_138386.2:c.407C>T, NM_001128931.2:c.407C>T, NM_001128931.1:c.407C>T, XM_047416407.1:c.-200C>T, XP_011530712.1:p.Ser136Leu, NP_612395.2:p.Ser136Leu, NP_001122403.1:p.Ser136Leu

Select item 149096694210.

rs1490966942 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:163149062 (GRCh38)
4:164070214 (GRCh37)
Canonical SPDI:: NC_000004.12:163149061:T:C
Gene:: NAF1 (Varview)
Functional Consequence:: intron_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_000004.12:g.163149062T>C, NC_000004.11:g.164070214T>C

Select item 149092328711.

rs1490923287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:163163486 (GRCh38)
4:164084638 (GRCh37)
Canonical SPDI:: NC_000004.12:163163485:C:T
Gene:: NAF1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.163163486C>T, NC_000004.11:g.164084638C>T

Select item 149090227212.

rs1490902272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:163141610 (GRCh38)
4:164062762 (GRCh37)
Canonical SPDI:: NC_000004.12:163141609:A:C,NC_000004.12:163141609:A:G
Gene:: NAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.163141610A>C, NC_000004.12:g.163141610A>G, NC_000004.11:g.164062762A>C, NC_000004.11:g.164062762A>G

Select item 149086071313.

rs1490860713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:163123186 (GRCh38)
4:164044338 (GRCh37)
Canonical SPDI:: NC_000004.12:163123185:T:C
Gene:: NAF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.163123186T>C, NC_000004.11:g.164044338T>C

Select item 149081230814.

rs1490812308 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTT [Show Flanks]
Chromosome:: 4:163155367 (GRCh38)
4:164076520 (GRCh37)
Canonical SPDI:: NC_000004.12:163155367::TTTTT
Gene:: NAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTTT=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.163155367_163155368insTTTTT, NC_000004.11:g.164076519_164076520insTTTTT

Select item 149079673015.

rs1490796730 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 4:163157994 (GRCh38)
4:164079146 (GRCh37)
Canonical SPDI:: NC_000004.12:163157993:A:
Gene:: NAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.163157994del, NC_000004.11:g.164079146del

Select item 149076144916.

rs1490761449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:163141196 (GRCh38)
4:164062348 (GRCh37)
Canonical SPDI:: NC_000004.12:163141195:C:A
Gene:: NAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.163141196C>A, NC_000004.11:g.164062348C>A

Select item 149069210017.

rs1490692100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:163155300 (GRCh38)
4:164076452 (GRCh37)
Canonical SPDI:: NC_000004.12:163155299:C:A
Gene:: NAF1 (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_000004.12:g.163155300C>A, NC_000004.11:g.164076452C>A

Select item 149061727318.

rs1490617273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 4:163139531 (GRCh38)
4:164060683 (GRCh37)
Canonical SPDI:: NC_000004.12:163139530:T:A,NC_000004.12:163139530:T:G
Gene:: NAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.163139531T>A, NC_000004.12:g.163139531T>G, NC_000004.11:g.164060683T>A, NC_000004.11:g.164060683T>G

Select item 149061378719.

rs1490613787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:163140791 (GRCh38)
4:164061943 (GRCh37)
Canonical SPDI:: NC_000004.12:163140790:A:G
Gene:: NAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.163140791A>G, NC_000004.11:g.164061943A>G

Select item 149057891820.

rs1490578918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:163154102 (GRCh38)
4:164075254 (GRCh37)
Canonical SPDI:: NC_000004.12:163154101:C:T
Gene:: NAF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.163154102C>T, NC_000004.11:g.164075254C>T

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