SNP Links for Nucleotide (Select 237858777) - SNP

Links from Nucleotide

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Select item 14915747101.

rs1491574710 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TGTG,TGTGTG [Show Flanks]
Chromosome:: 2:218381925 (GRCh38)
2:219246649 (GRCh37)
Canonical SPDI:: NC_000002.12:218381925::TG,NC_000002.12:218381925::TGTG,NC_000002.12:218381925::TGTGTG
Gene:: SLC11A1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
HGVS:: NC_000002.12:g.218381925_218381926insTG, NC_000002.12:g.218381925_218381926insTGTG, NC_000002.12:g.218381925_218381926insTGTGTG, NC_000002.11:g.219246648_219246649insTG, NC_000002.11:g.219246648_219246649insTGTG, NC_000002.11:g.219246648_219246649insTGTGTG, NG_012128.1:g.4897_4898insTG, NG_012128.1:g.4897_4898insTGTG, NG_012128.1:g.4897_4898insTGTGTG

Select item 14915198972.

rs1491519897 has merged into rs34589602 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:218393484 (GRCh38)
2:219258207 (GRCh37)
Canonical SPDI:: NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:218393474:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC11A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TT=0.2546/1275 (1000Genomes)
HGVS:: NC_000002.12:g.218393484_218393493del, NC_000002.12:g.218393486_218393493del, NC_000002.12:g.218393487_218393493del, NC_000002.12:g.218393488_218393493del, NC_000002.12:g.218393489_218393493del, NC_000002.12:g.218393490_218393493del, NC_000002.12:g.218393491_218393493del, NC_000002.12:g.218393492_218393493del, NC_000002.12:g.218393493del, NC_000002.12:g.218393493dup, NC_000002.12:g.218393492_218393493dup, NC_000002.12:g.218393486_218393493dup, NC_000002.11:g.219258207_219258216del, NC_000002.11:g.219258209_219258216del, NC_000002.11:g.219258210_219258216del, NC_000002.11:g.219258211_219258216del, NC_000002.11:g.219258212_219258216del, NC_000002.11:g.219258213_219258216del, NC_000002.11:g.219258214_219258216del, NC_000002.11:g.219258215_219258216del, NC_000002.11:g.219258216del, NC_000002.11:g.219258216dup, NC_000002.11:g.219258215_219258216dup, NC_000002.11:g.219258209_219258216dup, NG_012128.1:g.16456_16465del, NG_012128.1:g.16458_16465del, NG_012128.1:g.16459_16465del, NG_012128.1:g.16460_16465del, NG_012128.1:g.16461_16465del, NG_012128.1:g.16462_16465del, NG_012128.1:g.16463_16465del, NG_012128.1:g.16464_16465del, NG_012128.1:g.16465del, NG_012128.1:g.16465dup, NG_012128.1:g.16464_16465dup, NG_012128.1:g.16458_16465dup, NG_030418.1:g.147_156del, NG_030418.1:g.149_156del, NG_030418.1:g.150_156del, NG_030418.1:g.151_156del, NG_030418.1:g.152_156del, NG_030418.1:g.153_156del, NG_030418.1:g.154_156del, NG_030418.1:g.155_156del, NG_030418.1:g.156del, NG_030418.1:g.156dup, NG_030418.1:g.155_156dup, NG_030418.1:g.149_156dup

Select item 14913415693.

rs1491341569 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:218393475 (GRCh38)
2:219258199 (GRCh37)
Canonical SPDI:: NC_000002.12:218393475::G
Gene:: SLC11A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00158/11 (GnomAD)
HGVS:: NC_000002.12:g.218393475_218393476insG, NC_000002.11:g.219258198_219258199insG, NG_012128.1:g.16447_16448insG, NG_030418.1:g.138_139insG

Select item 14913079324.

rs1491307932 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:218398285 (GRCh38)
2:219263008 (GRCh37)
Canonical SPDI:: NC_000002.12:218398284:CA:
Gene:: CTDSP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.218398285_218398286del, NC_000002.11:g.219263008_219263009del, NG_012128.1:g.21257_21258del, NG_030418.1:g.4948_4949del, NM_001206878.2:c.-128_-127del, NM_001400272.1:c.-128_-127del, NR_174459.1:n.53_54del, NR_174460.1:n.53_54del

Select item 14912139545.

rs1491213954 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 2:218398285 (GRCh38)
2:219263009 (GRCh37)
Canonical SPDI:: NC_000002.12:218398285:A:AA,NC_000002.12:218398285:A:AAA
Gene:: CTDSP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.00081/15 (ALFA)
A=0.00031/2 (1000Genomes)
A=0.00336/15 (Estonian)
HGVS:: NC_000002.12:g.218398286dup, NC_000002.12:g.218398286_218398287insAA, NC_000002.11:g.219263009dup, NC_000002.11:g.219263009_219263010insAA, NG_012128.1:g.21258dup, NG_012128.1:g.21258_21259insAA, NG_030418.1:g.4949dup, NG_030418.1:g.4949_4950insAA, NM_001206878.2:c.-127dup, NM_001206878.2:c.-127_-126insAA, NM_001400272.1:c.-127dup, NM_001400272.1:c.-127_-126insAA, NR_174459.1:n.54dup, NR_174459.1:n.54_55insAA, NR_174460.1:n.54dup, NR_174460.1:n.54_55insAA

Select item 14911702596.

rs1491170259 has merged into rs869117014 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:218379735 (GRCh38)
2:219244458 (GRCh37)
Canonical SPDI:: NC_000002.12:218379733:TGT:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00011/10 (GnomAD)
HGVS:: NC_000002.12:g.218379735_218379736del, NC_000002.11:g.219244458_219244459del, NG_012128.1:g.2707_2708del

Select item 14908802827.

rs1490880282 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:218390758 (GRCh38)
2:219255481 (GRCh37)
Canonical SPDI:: NC_000002.12:218390757:T:G
Gene:: SLC11A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218390758T>G, NC_000002.11:g.219255481T>G, NG_012128.1:g.13730T>G

Select item 14908549808.

rs1490854980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218392552 (GRCh38)
2:219257275 (GRCh37)
Canonical SPDI:: NC_000002.12:218392551:T:C
Gene:: SLC11A1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000007/1 (GnomAD)
C=0.000042/11 (TOPMED)
C=0.000354/6 (TOMMO)
C=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.218392552T>C, NC_000002.11:g.219257275T>C, NG_012128.1:g.15524T>C

Select item 14907363809.

rs1490736380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218398810 (GRCh38)
2:219263533 (GRCh37)
Canonical SPDI:: NC_000002.12:218398809:T:C
Gene:: CTDSP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_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_000002.12:g.218398810T>C, NC_000002.11:g.219263533T>C, NG_012128.1:g.21782T>C, NG_030418.1:g.5473T>C, NM_001400268.1:c.-501T>C, NR_174464.1:n.69T>C, NR_174465.1:n.69T>C, NR_174461.1:n.69T>C, NR_174462.1:n.69T>C, NR_174463.1:n.69T>C

Select item 149061072210.

rs1490610722 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCTCG [Show Flanks]
Chromosome:: 2:218380422 (GRCh38)
2:219245146 (GRCh37)
Canonical SPDI:: NC_000002.12:218380422:CGATCTCG:CGATCTCGATCTCG
Gene:: SLC11A1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGATCTCGATCTCG=0./0 (ALFA)
CGATCT=0.000004/1 (TOPMED)
CGATCT=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218380425_218380430dup, NC_000002.11:g.219245148_219245153dup, NG_012128.1:g.3397_3402dup

Select item 149058939911.

rs1490589399 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:218378053 (GRCh38)
2:219242776 (GRCh37)
Canonical SPDI:: NC_000002.12:218378052:A:G,NC_000002.12:218378052:A:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
G=0.000011/3 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.218378053A>G, NC_000002.12:g.218378053A>T, NC_000002.11:g.219242776A>G, NC_000002.11:g.219242776A>T, NG_012128.1:g.1025A>G, NG_012128.1:g.1025A>T

Select item 149033544512.

rs1490335445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:218393188 (GRCh38)
2:219257911 (GRCh37)
Canonical SPDI:: NC_000002.12:218393187:C:A
Gene:: SLC11A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.218393188C>A, NC_000002.11:g.219257911C>A, NG_012128.1:g.16160C>A

Select item 149021556313.

rs1490215563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218380642 (GRCh38)
2:219245365 (GRCh37)
Canonical SPDI:: NC_000002.12:218380641:C:T
Gene:: SLC11A1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000002.12:g.218380642C>T, NC_000002.11:g.219245365C>T, NG_012128.1:g.3614C>T

Select item 149003805314.

rs1490038053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:218391711 (GRCh38)
2:219256434 (GRCh37)
Canonical SPDI:: NC_000002.12:218391710:C:A,NC_000002.12:218391710:C:G,NC_000002.12:218391710:C:T
Gene:: SLC11A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.218391711C>A, NC_000002.12:g.218391711C>G, NC_000002.12:g.218391711C>T, NC_000002.11:g.219256434C>A, NC_000002.11:g.219256434C>G, NC_000002.11:g.219256434C>T, NG_012128.1:g.14683C>A, NG_012128.1:g.14683C>G, NG_012128.1:g.14683C>T

Select item 148993473815.

rs1489934738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:218398125 (GRCh38)
2:219262848 (GRCh37)
Canonical SPDI:: NC_000002.12:218398124:C:A,NC_000002.12:218398124:C:T
Gene:: CTDSP1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218398125C>A, NC_000002.12:g.218398125C>T, NC_000002.11:g.219262848C>A, NC_000002.11:g.219262848C>T, NG_012128.1:g.21097C>A, NG_012128.1:g.21097C>T, NG_030418.1:g.4788C>A, NG_030418.1:g.4788C>T

Select item 148991917616.

rs1489919176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:218398588 (GRCh38)
2:219263311 (GRCh37)
Canonical SPDI:: NC_000002.12:218398587:C:G,NC_000002.12:218398587:C:T
Gene:: CTDSP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.218398588C>G, NC_000002.12:g.218398588C>T, NC_000002.11:g.219263311C>G, NC_000002.11:g.219263311C>T, NG_012128.1:g.21560C>G, NG_012128.1:g.21560C>T, NG_030418.1:g.5251C>G, NG_030418.1:g.5251C>T

Select item 148975459317.

rs1489754593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218385512 (GRCh38)
2:219250235 (GRCh37)
Canonical SPDI:: NC_000002.12:218385511:T:C
Gene:: SLC11A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218385512T>C, NC_000002.11:g.219250235T>C, NG_012128.1:g.8484T>C

Select item 148972377018.

rs1489723770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:218387830 (GRCh38)
2:219252553 (GRCh37)
Canonical SPDI:: NC_000002.12:218387829:C:A
Gene:: SLC11A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.218387830C>A, NC_000002.11:g.219252553C>A, NG_012128.1:g.10802C>A, NM_000578.4:c.670C>A, NM_000578.3:c.670C>A, XM_005246793.5:c.469C>A, XM_005246793.4:c.469C>A, XM_005246793.3:c.469C>A, XM_005246793.2:c.469C>A, XM_005246793.1:c.469C>A, XM_006712711.5:c.223C>A, XM_006712711.4:c.223C>A, XM_006712711.3:c.223C>A, XM_006712711.2:c.223C>A, XM_006712711.1:c.223C>A, XM_017004766.3:c.469C>A, XM_017004766.2:c.469C>A, XM_017004766.1:c.469C>A, XM_047445573.1:c.316C>A, XM_047445574.1:c.670C>A, XM_047445575.1:c.670C>A, NM_001032220.1:c.316C>A, NP_000569.3:p.Leu224Ile, XP_005246850.1:p.Leu157Ile, XP_006712774.1:p.Leu75Ile, XP_016860255.1:p.Leu157Ile, XP_047301529.1:p.Leu106Ile, XP_047301530.1:p.Leu224Ile, XP_047301531.1:p.Leu224Ile

Select item 148967041219.

rs1489670412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:218396276 (GRCh38)
2:219260999 (GRCh37)
Canonical SPDI:: NC_000002.12:218396275:T:A
Gene:: SLC11A1 (Varview), CTDSP1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218396276T>A, NC_000002.11:g.219260999T>A, NG_012128.1:g.19248T>A, NM_000578.4:c.*1241T>A, NM_000578.3:c.*1241T>A, NG_030418.1:g.2939T>A, XM_005246793.5:c.*1241T>A, XM_005246793.4:c.*1241T>A, XM_005246793.2:c.*1241T>A, XM_005246793.1:c.*1241T>A, XM_006712711.5:c.*1241T>A, XM_006712711.4:c.*1241T>A, XM_006712711.2:c.*1241T>A, XM_006712711.1:c.*1241T>A, XM_017004766.3:c.*1241T>A, XM_017004766.2:c.*1241T>A, XM_047445573.1:c.*1241T>A

Select item 148956520520.

rs1489565205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:218396098 (GRCh38)
2:219260821 (GRCh37)
Canonical SPDI:: NC_000002.12:218396097:G:C
Gene:: SLC11A1 (Varview), CTDSP1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.218396098G>C, NC_000002.11:g.219260821G>C, NG_012128.1:g.19070G>C, NM_000578.4:c.*1063G>C, NM_000578.3:c.*1063G>C, NG_030418.1:g.2761G>C, XM_005246793.5:c.*1063G>C, XM_005246793.4:c.*1063G>C, XM_005246793.2:c.*1063G>C, XM_005246793.1:c.*1063G>C, XM_006712711.5:c.*1063G>C, XM_006712711.4:c.*1063G>C, XM_006712711.2:c.*1063G>C, XM_006712711.1:c.*1063G>C, XM_017004766.3:c.*1063G>C, XM_017004766.2:c.*1063G>C, XM_047445573.1:c.*1063G>C

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