SNP Links for Gene (Select 11163) - SNP

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Select item 14913769991.

rs1491376999 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GAGCGAGACTCTGTCTC
Chromosome:: no mapping
Canonical SPDI:

Select item 14913757442.

rs1491375744 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCCCCCTT,CCCCTT,CCCT,CCCTT,CCT,CCTT,CT,CTT [Show Flanks]
Chromosome:: 12:93392254 (GRCh38)
12:93786031 (GRCh37)
Canonical SPDI:: NC_000012.12:93392254::CCCCCCTT,NC_000012.12:93392254::CCCCTT,NC_000012.12:93392254::CCCT,NC_000012.12:93392254::CCCTT,NC_000012.12:93392254::CCT,NC_000012.12:93392254::CCTT,NC_000012.12:93392254::CT,NC_000012.12:93392254::CTT
Gene:: NUDT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTT=0.00018/3 (ALFA)
HGVS:: NC_000012.12:g.93392254_93392255insCCCCCCTT, NC_000012.12:g.93392254_93392255insCCCCTT, NC_000012.12:g.93392254_93392255insCCCT, NC_000012.12:g.93392254_93392255insCCCTT, NC_000012.12:g.93392254_93392255insCCT, NC_000012.12:g.93392254_93392255insCCTT, NC_000012.12:g.93392254_93392255insCT, NC_000012.12:g.93392254_93392255insCTT, NC_000012.11:g.93786030_93786031insCCCCCCTT, NC_000012.11:g.93786030_93786031insCCCCTT, NC_000012.11:g.93786030_93786031insCCCT, NC_000012.11:g.93786030_93786031insCCCTT, NC_000012.11:g.93786030_93786031insCCT, NC_000012.11:g.93786030_93786031insCCTT, NC_000012.11:g.93786030_93786031insCT, NC_000012.11:g.93786030_93786031insCTT, NG_029507.1:g.19330_19331insCCCCCCTT, NG_029507.1:g.19330_19331insCCCCTT, NG_029507.1:g.19330_19331insCCCT, NG_029507.1:g.19330_19331insCCCTT, NG_029507.1:g.19330_19331insCCT, NG_029507.1:g.19330_19331insCCTT, NG_029507.1:g.19330_19331insCT, NG_029507.1:g.19330_19331insCTT

Select item 14913740043.

rs1491374004 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->C
Chromosome:: no mapping
Canonical SPDI:

Select item 14913641074.

rs1491364107 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC,TCC,TCCC,TCCCC,TCCCCC,TCCCCCC [Show Flanks]
Chromosome:: 12:93392243 (GRCh38)
12:93786020 (GRCh37)
Canonical SPDI:: NC_000012.12:93392243::TC,NC_000012.12:93392243::TCC,NC_000012.12:93392243::TCCC,NC_000012.12:93392243::TCCCC,NC_000012.12:93392243::TCCCCC,NC_000012.12:93392243::TCCCCCC
Gene:: NUDT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCC=0./0 (ALFA)
HGVS:: NC_000012.12:g.93392243_93392244insTC, NC_000012.12:g.93392243_93392244insTCC, NC_000012.12:g.93392243_93392244insTCCC, NC_000012.12:g.93392243_93392244insTCCCC, NC_000012.12:g.93392243_93392244insTCCCCC, NC_000012.12:g.93392243_93392244insTCCCCCC, NC_000012.11:g.93786019_93786020insTC, NC_000012.11:g.93786019_93786020insTCC, NC_000012.11:g.93786019_93786020insTCCC, NC_000012.11:g.93786019_93786020insTCCCC, NC_000012.11:g.93786019_93786020insTCCCCC, NC_000012.11:g.93786019_93786020insTCCCCCC, NG_029507.1:g.19319_19320insTC, NG_029507.1:g.19319_19320insTCC, NG_029507.1:g.19319_19320insTCCC, NG_029507.1:g.19319_19320insTCCCC, NG_029507.1:g.19319_19320insTCCCCC, NG_029507.1:g.19319_19320insTCCCCCC

Select item 14913463905.

rs1491346390 has merged into rs113310131 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 12:93377374 (GRCh38)
12:93771150 (GRCh37)
Canonical SPDI:: NC_000012.12:93377362:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:93377362:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:93377362:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:93377362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:93377362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:93377362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: NUDT4 (Varview), LOC643339 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.10523/527 (1000Genomes)
HGVS:: NC_000012.12:g.93377374_93377375del, NC_000012.12:g.93377375del, NC_000012.12:g.93377375dup, NC_000012.12:g.93377374_93377375dup, NC_000012.12:g.93377373_93377375dup, NC_000012.12:g.93377372_93377375dup, NC_000012.11:g.93771150_93771151del, NC_000012.11:g.93771151del, NC_000012.11:g.93771151dup, NC_000012.11:g.93771150_93771151dup, NC_000012.11:g.93771149_93771151dup, NC_000012.11:g.93771148_93771151dup, NG_029507.1:g.4450_4451del, NG_029507.1:g.4451del, NG_029507.1:g.4451dup, NG_029507.1:g.4450_4451dup, NG_029507.1:g.4449_4451dup, NG_029507.1:g.4448_4451dup

Select item 14913299856.

rs1491329985 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:93392254 (GRCh38)
12:93786030 (GRCh37)
Canonical SPDI:: NC_000012.12:93392253:CT:
Gene:: NUDT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.93392254_93392255del, NC_000012.11:g.93786030_93786031del, NG_029507.1:g.19330_19331del

Select item 14912952117.

rs1491295211 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC,TC [Show Flanks]
Chromosome:: 12:93392244 (GRCh38)
12:93786021 (GRCh37)
Canonical SPDI:: NC_000012.12:93392244:C:CGC,NC_000012.12:93392244:C:CTC
Gene:: NUDT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
CT=0.000011/3 (TOPMED)
CG=0.002/3 (Korea1K)
HGVS:: NC_000012.12:g.93392245_93392246insGC, NC_000012.12:g.93392245_93392246insTC, NC_000012.11:g.93786021_93786022insGC, NC_000012.11:g.93786021_93786022insTC, NG_029507.1:g.19321_19322insGC, NG_029507.1:g.19321_19322insTC

Select item 14912583888.

rs1491258388 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->G
Chromosome:: no mapping
Canonical SPDI:

Select item 14912146549.

rs1491214654 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 12:93392684 (GRCh38)
12:93786460 (GRCh37)
Canonical SPDI:: NC_000012.12:93392683:TC:
Gene:: NUDT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000253/3 (ALFA)
-=0.000449/46 (GnomAD)
-=0.002094/30 (TOMMO)
HGVS:: NC_000012.12:g.93392684_93392685del, NC_000012.11:g.93786460_93786461del, NG_029507.1:g.19760_19761del

Select item 149111619910.

rs1491116199 has merged into rs112297022 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 12:93389910 (GRCh38)
12:93783686 (GRCh37)
Canonical SPDI:: NC_000012.12:93389899:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:93389899:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:93389899:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:93389899:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:93389899:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: NUDT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.08667/52 (NorthernSweden)
A=0.125/5 (GENOME_DK)
HGVS:: NC_000012.12:g.93389910_93389912del, NC_000012.12:g.93389911_93389912del, NC_000012.12:g.93389912del, NC_000012.12:g.93389912dup, NC_000012.12:g.93389911_93389912dup, NC_000012.11:g.93783686_93783688del, NC_000012.11:g.93783687_93783688del, NC_000012.11:g.93783688del, NC_000012.11:g.93783688dup, NC_000012.11:g.93783687_93783688dup, NG_029507.1:g.16986_16988del, NG_029507.1:g.16987_16988del, NG_029507.1:g.16988del, NG_029507.1:g.16988dup, NG_029507.1:g.16987_16988dup

Select item 149110328611.

rs1491103286 has merged into rs35273143 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA [Show Flanks]
Chromosome:: 12:93391576 (GRCh38)
12:93785352 (GRCh37)
Canonical SPDI:: NC_000012.12:93391564:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:93391564:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:93391564:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:93391564:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: NUDT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3147/1576 (1000Genomes)
-=0.325/13 (GENOME_DK)
-=0.3435/202 (NorthernSweden)
HGVS:: NC_000012.12:g.93391576_93391578del, NC_000012.12:g.93391577_93391578del, NC_000012.12:g.93391578del, NC_000012.12:g.93391578dup, NC_000012.11:g.93785352_93785354del, NC_000012.11:g.93785353_93785354del, NC_000012.11:g.93785354del, NC_000012.11:g.93785354dup, NG_029507.1:g.18652_18654del, NG_029507.1:g.18653_18654del, NG_029507.1:g.18654del, NG_029507.1:g.18654dup

Select item 149107388512.

rs1491073885 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA [Show Flanks]
Chromosome:: 12:93403030 (GRCh38)
12:93796807 (GRCh37)
Canonical SPDI:: NC_000012.12:93403030::TA
Gene:: NUDT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TA=0./0 (ALFA)
HGVS:: NC_000012.12:g.93403030_93403031insTA, NC_000012.11:g.93796806_93796807insTA, NG_029507.1:g.30106_30107insTA, NM_019094.5:c.*3651_*3652insTA, NM_019094.6:c.*3651_*3652insTA, NM_019094.4:c.*3651_*3652insTA, NM_199040.3:c.*3651_*3652insTA, NM_199040.4:c.*3651_*3652insTA, NM_199040.2:c.*3651_*3652insTA, NM_001301022.1:c.*3651_*3652insTA, NM_001301022.2:c.*3651_*3652insTA, NM_001301023.1:c.*3651_*3652insTA, NM_001301023.2:c.*3651_*3652insTA, NM_001301024.1:c.*3651_*3652insTA, NM_001301024.2:c.*3651_*3652insTA, XM_047428136.1:c.*3651_*3652insTA, XM_047428137.1:c.*3651_*3652insTA, XM_047428135.1:c.*3651_*3652insTA, XM_047428138.1:c.*3651_*3652insTA

Select item 149104767513.

rs1491047675 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:93403030 (GRCh38)
12:93796806 (GRCh37)
Canonical SPDI:: NC_000012.12:93403029:TA:
Gene:: NUDT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.93403030_93403031del, NC_000012.11:g.93796806_93796807del, NG_029507.1:g.30106_30107del, NM_019094.5:c.*3651_*3652del, NM_019094.6:c.*3651_*3652del, NM_019094.4:c.*3651_*3652del, NM_199040.3:c.*3651_*3652del, NM_199040.4:c.*3651_*3652del, NM_199040.2:c.*3651_*3652del, NM_001301022.1:c.*3651_*3652del, NM_001301022.2:c.*3651_*3652del, NM_001301023.1:c.*3651_*3652del, NM_001301023.2:c.*3651_*3652del, NM_001301024.1:c.*3651_*3652del, NM_001301024.2:c.*3651_*3652del, XM_047428136.1:c.*3651_*3652del, XM_047428137.1:c.*3651_*3652del, XM_047428135.1:c.*3651_*3652del, XM_047428138.1:c.*3651_*3652del

Select item 149100932914.

rs1491009329 has merged into rs35606767 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 12:93403029 (GRCh38)
12:93796805 (GRCh37)
Canonical SPDI:: NC_000012.12:93403027:TTT:T,NC_000012.12:93403027:TTT:TT,NC_000012.12:93403027:TTT:TTTT
Gene:: NUDT4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00182/29 (ALFA)
T=0.00987/165 (TOMMO)
T=0.0151/9 (NorthernSweden)
T=0.1483/148 (GoNL)
HGVS:: NC_000012.12:g.93403029_93403030del, NC_000012.12:g.93403030del, NC_000012.12:g.93403030dup, NC_000012.11:g.93796805_93796806del, NC_000012.11:g.93796806del, NC_000012.11:g.93796806dup, NG_029507.1:g.30105_30106del, NG_029507.1:g.30106del, NG_029507.1:g.30106dup, NM_019094.5:c.*3650_*3651del, NM_019094.5:c.*3651del, NM_019094.5:c.*3651dup, NM_019094.6:c.*3650_*3651del, NM_019094.6:c.*3651del, NM_019094.6:c.*3651dup, NM_019094.4:c.*3650_*3651del, NM_019094.4:c.*3651del, NM_019094.4:c.*3651dup, NM_199040.3:c.*3650_*3651del, NM_199040.3:c.*3651del, NM_199040.3:c.*3651dup, NM_199040.4:c.*3650_*3651del, NM_199040.4:c.*3651del, NM_199040.4:c.*3651dup, NM_199040.2:c.*3650_*3651del, NM_199040.2:c.*3651del, NM_199040.2:c.*3651dup, NM_001301022.1:c.*3650_*3651del, NM_001301022.1:c.*3651del, NM_001301022.1:c.*3651dup, NM_001301022.2:c.*3650_*3651del, NM_001301022.2:c.*3651del, NM_001301022.2:c.*3651dup, NM_001301023.1:c.*3650_*3651del, NM_001301023.1:c.*3651del, NM_001301023.1:c.*3651dup, NM_001301023.2:c.*3650_*3651del, NM_001301023.2:c.*3651del, NM_001301023.2:c.*3651dup, NM_001301024.1:c.*3650_*3651del, NM_001301024.1:c.*3651del, NM_001301024.1:c.*3651dup, NM_001301024.2:c.*3650_*3651del, NM_001301024.2:c.*3651del, NM_001301024.2:c.*3651dup, XM_047428136.1:c.*3650_*3651del, XM_047428136.1:c.*3651del, XM_047428136.1:c.*3651dup, XM_047428137.1:c.*3650_*3651del, XM_047428137.1:c.*3651del, XM_047428137.1:c.*3651dup, XM_047428135.1:c.*3650_*3651del, XM_047428135.1:c.*3651del, XM_047428135.1:c.*3651dup, XM_047428138.1:c.*3650_*3651del, XM_047428138.1:c.*3651del, XM_047428138.1:c.*3651dup

Select item 149099933015.

rs1490999330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:93383564 (GRCh38)
12:93777340 (GRCh37)
Canonical SPDI:: NC_000012.12:93383563:G:A
Gene:: NUDT4 (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_000012.12:g.93383564G>A, NC_000012.11:g.93777340G>A, NG_029507.1:g.10640G>A

Select item 149091802616.

rs1490918026 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAC>- [Show Flanks]
Chromosome:: 12:93388731 (GRCh38)
12:93782507 (GRCh37)
Canonical SPDI:: NC_000012.12:93388726:TAACTAAC:TAAC
Gene:: NUDT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAACTAAC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.93388727TAAC[1], NC_000012.11:g.93782503TAAC[1], NG_029507.1:g.15803TAAC[1]

Select item 149082722717.

rs1490827227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:93377809 (GRCh38)
12:93771585 (GRCh37)
Canonical SPDI:: NC_000012.12:93377808:C:T
Gene:: NUDT4 (Varview), LOC643339 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.93377809C>T, NC_000012.11:g.93771585C>T, NG_029507.1:g.4885C>T

Select item 149079029218.

rs1490790292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:93376607 (GRCh38)
12:93770383 (GRCh37)
Canonical SPDI:: NC_000012.12:93376606:T:G
Gene:: NUDT4 (Varview), LOC643339 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.93376607T>G, NC_000012.11:g.93770383T>G, NG_029507.1:g.3683T>G

Select item 149075376619.

rs1490753766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:93399073 (GRCh38)
12:93792849 (GRCh37)
Canonical SPDI:: NC_000012.12:93399072:C:T
Gene:: NUDT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.93399073C>T, NC_000012.11:g.93792849C>T, NG_029507.1:g.26149C>T

Select item 149058447520.

rs1490584475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:93391491 (GRCh38)
12:93785267 (GRCh37)
Canonical SPDI:: NC_000012.12:93391490:G:A
Gene:: NUDT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.93391491G>A, NC_000012.11:g.93785267G>A, NG_029507.1:g.18567G>A

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