SNP Links for Nucleotide (Select 301171385) - SNP

Links from Nucleotide

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Select item 14914889581.

rs1491488958 has merged into rs758504791 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:196474134 (GRCh38)
3:196201005 (GRCh37)
Canonical SPDI:: NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:196474124:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.196474134_196474145del, NC_000003.12:g.196474136_196474145del, NC_000003.12:g.196474139_196474145del, NC_000003.12:g.196474140_196474145del, NC_000003.12:g.196474141_196474145del, NC_000003.12:g.196474142_196474145del, NC_000003.12:g.196474143_196474145del, NC_000003.12:g.196474144_196474145del, NC_000003.12:g.196474145del, NC_000003.12:g.196474145dup, NC_000003.12:g.196474144_196474145dup, NC_000003.12:g.196474143_196474145dup, NC_000003.12:g.196474142_196474145dup, NC_000003.12:g.196474141_196474145dup, NC_000003.12:g.196474137_196474145dup, NC_000003.11:g.196201005_196201016del, NC_000003.11:g.196201007_196201016del, NC_000003.11:g.196201010_196201016del, NC_000003.11:g.196201011_196201016del, NC_000003.11:g.196201012_196201016del, NC_000003.11:g.196201013_196201016del, NC_000003.11:g.196201014_196201016del, NC_000003.11:g.196201015_196201016del, NC_000003.11:g.196201016del, NC_000003.11:g.196201016dup, NC_000003.11:g.196201015_196201016dup, NC_000003.11:g.196201014_196201016dup, NC_000003.11:g.196201013_196201016dup, NC_000003.11:g.196201012_196201016dup, NC_000003.11:g.196201008_196201016dup, NG_023425.1:g.34633_34644del, NG_023425.1:g.34635_34644del, NG_023425.1:g.34638_34644del, NG_023425.1:g.34639_34644del, NG_023425.1:g.34640_34644del, NG_023425.1:g.34641_34644del, NG_023425.1:g.34642_34644del, NG_023425.1:g.34643_34644del, NG_023425.1:g.34644del, NG_023425.1:g.34644dup, NG_023425.1:g.34643_34644dup, NG_023425.1:g.34642_34644dup, NG_023425.1:g.34641_34644dup, NG_023425.1:g.34640_34644dup, NG_023425.1:g.34636_34644dup

Select item 14914833152.

rs1491483315 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:196474448 (GRCh38)
3:196201320 (GRCh37)
Canonical SPDI:: NC_000003.12:196474448::C
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196474448_196474449insC, NC_000003.11:g.196201319_196201320insC, NG_023425.1:g.34320_34321insG

Select item 14914761793.

rs1491476179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:196475238 (GRCh38)
3:196202110 (GRCh37)
Canonical SPDI:: NC_000003.12:196475238:C:CC
Gene:: RNF168 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196475239dup, NC_000003.11:g.196202110dup, NG_023425.1:g.33530dup, NM_152617.4:c.754dup, NM_152617.3:c.754dup, NP_689830.2:p.Val252fs

Select item 14914661994.

rs1491466199 has merged into rs78108021 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:196474457 (GRCh38)
3:196201328 (GRCh37)
Canonical SPDI:: NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:196474447:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.11242/563 (1000Genomes)
HGVS:: NC_000003.12:g.196474457_196474464del, NC_000003.12:g.196474458_196474464del, NC_000003.12:g.196474459_196474464del, NC_000003.12:g.196474461_196474464del, NC_000003.12:g.196474462_196474464del, NC_000003.12:g.196474463_196474464del, NC_000003.12:g.196474464del, NC_000003.12:g.196474464dup, NC_000003.12:g.196474463_196474464dup, NC_000003.12:g.196474462_196474464dup, NC_000003.12:g.196474461_196474464dup, NC_000003.11:g.196201328_196201335del, NC_000003.11:g.196201329_196201335del, NC_000003.11:g.196201330_196201335del, NC_000003.11:g.196201332_196201335del, NC_000003.11:g.196201333_196201335del, NC_000003.11:g.196201334_196201335del, NC_000003.11:g.196201335del, NC_000003.11:g.196201335dup, NC_000003.11:g.196201334_196201335dup, NC_000003.11:g.196201333_196201335dup, NC_000003.11:g.196201332_196201335dup, NG_023425.1:g.34314_34321del, NG_023425.1:g.34315_34321del, NG_023425.1:g.34316_34321del, NG_023425.1:g.34318_34321del, NG_023425.1:g.34319_34321del, NG_023425.1:g.34320_34321del, NG_023425.1:g.34321del, NG_023425.1:g.34321dup, NG_023425.1:g.34320_34321dup, NG_023425.1:g.34319_34321dup, NG_023425.1:g.34318_34321dup

Select item 14914201115.

rs1491420111 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 3:196475238 (GRCh38)
3:196202109 (GRCh37)
Canonical SPDI:: NC_000003.12:196475237:AC:
Gene:: RNF168 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196475238_196475239del, NC_000003.11:g.196202109_196202110del, NG_023425.1:g.33530_33531del, NM_152617.4:c.754_755del, NM_152617.3:c.754_755del, NP_689830.2:p.Val252fs

Select item 14912389106.

rs1491238910 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 3:196474125 (GRCh38)
3:196200997 (GRCh37)
Canonical SPDI:: NC_000003.12:196474125:T:TAT
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.196474126_196474127insAT, NC_000003.11:g.196200997_196200998insAT, NG_023425.1:g.34643_34644insTA

Select item 14910848337.

rs1491084833 has merged into rs34914417 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:196495189 (GRCh38)
3:196222060 (GRCh37)
Canonical SPDI:: NC_000003.12:196495176:GTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:196495176:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:196495176:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:196495176:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:196495176:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196495176:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:196495176:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.026/130 (1000Genomes)
GT=0.275/165 (NorthernSweden)
GT=0.3571/1595 (Estonian)
GT=0.3898/389 (GoNL)
GT=0.45/18 (GENOME_DK)
HGVS:: NC_000003.12:g.196495177GT[6], NC_000003.12:g.196495177GT[7], NC_000003.12:g.196495177GT[9], NC_000003.12:g.196495177GT[10], NC_000003.12:g.196495177GT[11], NC_000003.12:g.196495177GT[12], NC_000003.12:g.196495177GT[13], NC_000003.11:g.196222048GT[6], NC_000003.11:g.196222048GT[7], NC_000003.11:g.196222048GT[9], NC_000003.11:g.196222048GT[10], NC_000003.11:g.196222048GT[11], NC_000003.11:g.196222048GT[12], NC_000003.11:g.196222048GT[13], NG_023425.1:g.13577AC[6], NG_023425.1:g.13577AC[7], NG_023425.1:g.13577AC[9], NG_023425.1:g.13577AC[10], NG_023425.1:g.13577AC[11], NG_023425.1:g.13577AC[12], NG_023425.1:g.13577AC[13]

Select item 14910284488.

rs1491028448 has merged into rs63692263 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 3:196485500 (GRCh38)
3:196212371 (GRCh37)
Canonical SPDI:: NC_000003.12:196485489:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:196485489:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:196485489:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:196485489:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:196485489:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0.0007/4 (ALFA)
A=0.2391/143 (NorthernSweden)
A=0.2665/1027 (ALSPAC)
A=0.2778/1030 (TWINSUK)
A=0.353/1768 (1000Genomes)
HGVS:: NC_000003.12:g.196485500_196485502del, NC_000003.12:g.196485501_196485502del, NC_000003.12:g.196485502del, NC_000003.12:g.196485502dup, NC_000003.12:g.196485501_196485502dup, NC_000003.11:g.196212371_196212373del, NC_000003.11:g.196212372_196212373del, NC_000003.11:g.196212373del, NC_000003.11:g.196212373dup, NC_000003.11:g.196212372_196212373dup, NG_023425.1:g.23277_23279del, NG_023425.1:g.23278_23279del, NG_023425.1:g.23279del, NG_023425.1:g.23279dup, NG_023425.1:g.23278_23279dup

Select item 14908668059.

rs1490866805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:196493713 (GRCh38)
3:196220584 (GRCh37)
Canonical SPDI:: NC_000003.12:196493712:G:C
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.196493713G>C, NC_000003.11:g.196220584G>C, NG_023425.1:g.15056C>G

Select item 149086575410.

rs1490865754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196494156 (GRCh38)
3:196221027 (GRCh37)
Canonical SPDI:: NC_000003.12:196494155:A:G
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.196494156A>G, NC_000003.11:g.196221027A>G, NG_023425.1:g.14613T>C

Select item 149074142411.

rs1490741424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:196487816 (GRCh38)
3:196214687 (GRCh37)
Canonical SPDI:: NC_000003.12:196487815:G:A
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196487816G>A, NC_000003.11:g.196214687G>A, NG_023425.1:g.20953C>T

Select item 149073431312.

rs1490734313 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 3:196475860 (GRCh38)
3:196202732 (GRCh37)
Canonical SPDI:: NC_000003.12:196475860::C,NC_000003.12:196475860::G
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196475860_196475861insC, NC_000003.12:g.196475860_196475861insG, NC_000003.11:g.196202731_196202732insC, NC_000003.11:g.196202731_196202732insG, NG_023425.1:g.32908_32909insG, NG_023425.1:g.32908_32909insC

Select item 149069783613.

rs1490697836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:196475183 (GRCh38)
3:196202054 (GRCh37)
Canonical SPDI:: NC_000003.12:196475182:A:G
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196475183A>G, NC_000003.11:g.196202054A>G, NG_023425.1:g.33586T>C

Select item 149064037714.

rs1490640377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:196467574 (GRCh38)
3:196194445 (GRCh37)
Canonical SPDI:: NC_000003.12:196467573:A:T
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196467574A>T, NC_000003.11:g.196194445A>T, NG_023425.1:g.41195T>A

Select item 149060585015.

rs1490605850 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:196469590 (GRCh38)
3:196196462 (GRCh37)
Canonical SPDI:: NC_000003.12:196469590:TTTTTT:TTTTTTT
Gene:: RNF168 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000003.12:g.196469596dup, NC_000003.11:g.196196467dup, NG_023425.1:g.39178dup, NM_152617.4:c.*2228dup, NM_152617.3:c.*2228dup

Select item 149047384716.

rs1490473847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:196506465 (GRCh38)
3:196233336 (GRCh37)
Canonical SPDI:: NC_000003.12:196506464:C:A
Gene:: SMCO1 (Varview), LOC105374307 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000003.12:g.196506465C>A, NC_000003.11:g.196233336C>A, NG_023425.1:g.2304G>T, XR_007096241.1:n.999C>A

Select item 149047010817.

rs1490470108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:196472421 (GRCh38)
3:196199292 (GRCh37)
Canonical SPDI:: NC_000003.12:196472420:T:A
Gene:: RNF168 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.196472421T>A, NC_000003.11:g.196199292T>A, NG_023425.1:g.36348A>T, NM_152617.4:c.1114A>T, NM_152617.3:c.1114A>T, NP_689830.2:p.Thr372Ser

Select item 149041545018.

rs1490415450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:196507354 (GRCh38)
3:196234225 (GRCh37)
Canonical SPDI:: NC_000003.12:196507353:C:T
Gene:: SMCO1 (Varview), LOC105374307 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.196507354C>T, NC_000003.11:g.196234225C>T, NG_023425.1:g.1415G>A, NM_001077657.3:c.*533G>A, NM_001077657.2:c.*533G>A, NM_001077657.1:c.*533G>A, XM_024453435.2:c.*533G>A, XM_024453435.1:c.*533G>A, NM_001320473.2:c.*533G>A, NM_001320473.1:c.*533G>A

Select item 149040006119.

rs1490400061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:196506217 (GRCh38)
3:196233088 (GRCh37)
Canonical SPDI:: NC_000003.12:196506216:G:T
Gene:: LOC105374307 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000016/2 (GnomAD)
HGVS:: NC_000003.12:g.196506217G>T, NC_000003.11:g.196233088G>T, NG_023425.1:g.2552C>A

Select item 149039154820.

rs1490391548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:196495327 (GRCh38)
3:196222198 (GRCh37)
Canonical SPDI:: NC_000003.12:196495326:T:C
Gene:: RNF168 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.196495327T>C, NC_000003.11:g.196222198T>C, NG_023425.1:g.13442A>G

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