SNP Links for Nucleotide (Select 33667039) - SNP

Links from Nucleotide

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Select item 14912858931.

rs1491285893 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTATAT,GTATATAT,GTATATATAT,GTATATATATAT,GTATATATATATATAT,GTATATATATATATATATAT [Show Flanks]
Chromosome:: 19:55988444 (GRCh38)
19:56499811 (GRCh37)
Canonical SPDI:: NC_000019.10:55988444:T:TGTAT,NC_000019.10:55988444:T:TGTATAT,NC_000019.10:55988444:T:TGTATATAT,NC_000019.10:55988444:T:TGTATATATAT,NC_000019.10:55988444:T:TGTATATATATAT,NC_000019.10:55988444:T:TGTATATATATATATAT,NC_000019.10:55988444:T:TGTATATATATATATATATAT
Gene:: NLRP8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTATATAT=0./0 (ALFA)
HGVS:: NC_000019.10:g.55988445_55988446insGTAT, NC_000019.10:g.55988445_55988446insGTATAT, NC_000019.10:g.55988445_55988446insGTATATAT, NC_000019.10:g.55988445_55988446insGTATATATAT, NC_000019.10:g.55988445_55988446insGTATATATATAT, NC_000019.10:g.55988445_55988446insGTATATATATATATAT, NC_000019.10:g.55988445_55988446insGTATATATATATATATATAT, NC_000019.9:g.56499811_56499812insGTAT, NC_000019.9:g.56499811_56499812insGTATAT, NC_000019.9:g.56499811_56499812insGTATATAT, NC_000019.9:g.56499811_56499812insGTATATATAT, NC_000019.9:g.56499811_56499812insGTATATATATAT, NC_000019.9:g.56499811_56499812insGTATATATATATATAT, NC_000019.9:g.56499811_56499812insGTATATATATATATATATAT, NG_046924.1:g.6663_6664insGTAT, NG_046924.1:g.6663_6664insGTATAT, NG_046924.1:g.6663_6664insGTATATAT, NG_046924.1:g.6663_6664insGTATATATAT, NG_046924.1:g.6663_6664insGTATATATATAT, NG_046924.1:g.6663_6664insGTATATATATATATAT, NG_046924.1:g.6663_6664insGTATATATATATATATATAT, NG_051553.1:g.45614_45615insGTAT, NG_051553.1:g.45614_45615insGTATAT, NG_051553.1:g.45614_45615insGTATATAT, NG_051553.1:g.45614_45615insGTATATATAT, NG_051553.1:g.45614_45615insGTATATATATAT, NG_051553.1:g.45614_45615insGTATATATATATATAT, NG_051553.1:g.45614_45615insGTATATATATATATATATAT, NM_176811.2:c.*532_*533insGTAT, NM_176811.2:c.*532_*533insGTATAT, NM_176811.2:c.*532_*533insGTATATAT, NM_176811.2:c.*532_*533insGTATATATAT, NM_176811.2:c.*532_*533insGTATATATATAT, NM_176811.2:c.*532_*533insGTATATATATATATAT, NM_176811.2:c.*532_*533insGTATATATATATATATATAT, NM_001317000.1:c.*532_*533insGTAT, NM_001317000.1:c.*532_*533insGTATAT, NM_001317000.1:c.*532_*533insGTATATAT, NM_001317000.1:c.*532_*533insGTATATATAT, NM_001317000.1:c.*532_*533insGTATATATATAT, NM_001317000.1:c.*532_*533insGTATATATATATATAT, NM_001317000.1:c.*532_*533insGTATATATATATATATATAT

Select item 14897453952.

rs1489745395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55955341 (GRCh38)
19:56466707 (GRCh37)
Canonical SPDI:: NC_000019.10:55955340:T:C
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55955341T>C, NC_000019.9:g.56466707T>C, NG_051553.1:g.12510T>C, NM_176811.2:c.1283T>C, NM_001317000.1:c.1283T>C, NP_789781.2:p.Val428Ala, NP_001303929.1:p.Val428Ala

Select item 14893833663.

rs1489383366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55955068 (GRCh38)
19:56466434 (GRCh37)
Canonical SPDI:: NC_000019.10:55955067:C:T
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55955068C>T, NC_000019.9:g.56466434C>T, NG_051553.1:g.12237C>T, NM_176811.2:c.1010C>T, NM_001317000.1:c.1010C>T, NP_789781.2:p.Thr337Ile, NP_001303929.1:p.Thr337Ile

Select item 14869252774.

rs1486925277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:55947977 (GRCh38)
19:56459343 (GRCh37)
Canonical SPDI:: NC_000019.10:55947976:G:A,NC_000019.10:55947976:G:T
Gene:: NLRP8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.55947977G>A, NC_000019.10:g.55947977G>T, NC_000019.9:g.56459343G>A, NC_000019.9:g.56459343G>T, NG_051553.1:g.5146G>A, NG_051553.1:g.5146G>T, NM_176811.2:c.75G>A, NM_176811.2:c.75G>T, NM_001317000.1:c.75G>A, NM_001317000.1:c.75G>T

Select item 14860648845.

rs1486064884 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55988317 (GRCh38)
19:56499683 (GRCh37)
Canonical SPDI:: NC_000019.10:55988316:T:C
Gene:: NLRP8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.55988317T>C, NC_000019.9:g.56499683T>C, NG_046924.1:g.6535T>C, NG_051553.1:g.45486T>C, NM_176811.2:c.*404T>C, NM_001317000.1:c.*404T>C

Select item 14858139586.

rs1485813958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:55948180 (GRCh38)
19:56459546 (GRCh37)
Canonical SPDI:: NC_000019.10:55948179:C:A,NC_000019.10:55948179:C:T
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55948180C>A, NC_000019.10:g.55948180C>T, NC_000019.9:g.56459546C>A, NC_000019.9:g.56459546C>T, NG_051553.1:g.5349C>A, NG_051553.1:g.5349C>T, NM_176811.2:c.278C>A, NM_176811.2:c.278C>T, NM_001317000.1:c.278C>A, NM_001317000.1:c.278C>T, NP_789781.2:p.Pro93His, NP_789781.2:p.Pro93Leu, NP_001303929.1:p.Pro93His, NP_001303929.1:p.Pro93Leu

Select item 14845128397.

rs1484512839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55988382 (GRCh38)
19:56499748 (GRCh37)
Canonical SPDI:: NC_000019.10:55988381:A:G
Gene:: NLRP8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000019.10:g.55988382A>G, NC_000019.9:g.56499748A>G, NG_046924.1:g.6600A>G, NG_051553.1:g.45551A>G, NM_176811.2:c.*469A>G, NM_001317000.1:c.*469A>G

Select item 14824649128.

rs1482464912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55973681 (GRCh38)
19:56485047 (GRCh37)
Canonical SPDI:: NC_000019.10:55973680:C:T
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_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_000019.10:g.55973681C>T, NC_000019.9:g.56485047C>T, NG_051553.1:g.30850C>T, NM_176811.2:c.2564C>T, NP_789781.2:p.Thr855Ile

Select item 14822363459.

rs1482236345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55947956 (GRCh38)
19:56459322 (GRCh37)
Canonical SPDI:: NC_000019.10:55947955:C:T
Gene:: NLRP8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.55947956C>T, NC_000019.9:g.56459322C>T, NG_051553.1:g.5125C>T, NM_176811.2:c.54C>T, NM_001317000.1:c.54C>T

Select item 148034749310.

rs1480347493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:55948083 (GRCh38)
19:56459449 (GRCh37)
Canonical SPDI:: NC_000019.10:55948082:C:G
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.55948083C>G, NC_000019.9:g.56459449C>G, NG_051553.1:g.5252C>G, NM_176811.2:c.181C>G, NM_001317000.1:c.181C>G, NP_789781.2:p.Leu61Val, NP_001303929.1:p.Leu61Val

Select item 147721186511.

rs1477211865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:55966219 (GRCh38)
19:56477585 (GRCh37)
Canonical SPDI:: NC_000019.10:55966218:G:C,NC_000019.10:55966218:G:T
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55966219G>C, NC_000019.10:g.55966219G>T, NC_000019.9:g.56477585G>C, NC_000019.9:g.56477585G>T, NG_051553.1:g.23388G>C, NG_051553.1:g.23388G>T, NM_176811.2:c.2220G>C, NM_176811.2:c.2220G>T, NM_001317000.1:c.2220G>C, NM_001317000.1:c.2220G>T, NP_789781.2:p.Arg740Ser, NP_789781.2:p.Arg740Ser, NP_001303929.1:p.Arg740Ser, NP_001303929.1:p.Arg740Ser

Select item 147703335312.

rs1477033353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:55966313 (GRCh38)
19:56477679 (GRCh37)
Canonical SPDI:: NC_000019.10:55966312:G:C
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55966313G>C, NC_000019.9:g.56477679G>C, NG_051553.1:g.23482G>C, NM_176811.2:c.2314G>C, NM_001317000.1:c.2314G>C, NP_789781.2:p.Glu772Gln, NP_001303929.1:p.Glu772Gln

Select item 147685396713.

rs1476853967 has merged into rs35488951 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 19:55988436 (GRCh38)
19:56499802 (GRCh37)
Canonical SPDI:: NC_000019.10:55988434:TGTGTGTGTGT:T,NC_000019.10:55988434:TGTGTGTGTGT:TGT,NC_000019.10:55988434:TGTGTGTGTGT:TGTGT,NC_000019.10:55988434:TGTGTGTGTGT:TGTGTGT,NC_000019.10:55988434:TGTGTGTGTGT:TGTGTGTGT,NC_000019.10:55988434:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: NLRP8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
-=0.24987/963 (ALSPAC)
TG=0.33586/1682 (1000Genomes)
HGVS:: NC_000019.10:g.55988436_55988445del, NC_000019.10:g.55988436GT[1], NC_000019.10:g.55988436GT[2], NC_000019.10:g.55988436GT[3], NC_000019.10:g.55988436GT[4], NC_000019.10:g.55988436GT[6], NC_000019.9:g.56499802_56499811del, NC_000019.9:g.56499802GT[1], NC_000019.9:g.56499802GT[2], NC_000019.9:g.56499802GT[3], NC_000019.9:g.56499802GT[4], NC_000019.9:g.56499802GT[6], NG_046924.1:g.6654_6663del, NG_046924.1:g.6654GT[1], NG_046924.1:g.6654GT[2], NG_046924.1:g.6654GT[3], NG_046924.1:g.6654GT[4], NG_046924.1:g.6654GT[6], NG_051553.1:g.45605_45614del, NG_051553.1:g.45605GT[1], NG_051553.1:g.45605GT[2], NG_051553.1:g.45605GT[3], NG_051553.1:g.45605GT[4], NG_051553.1:g.45605GT[6], NM_176811.2:c.*523_*532del, NM_176811.2:c.*523GT[1], NM_176811.2:c.*523GT[2], NM_176811.2:c.*523GT[3], NM_176811.2:c.*523GT[4], NM_176811.2:c.*523GT[6], NM_001317000.1:c.*523_*532del, NM_001317000.1:c.*523GT[1], NM_001317000.1:c.*523GT[2], NM_001317000.1:c.*523GT[3], NM_001317000.1:c.*523GT[4], NM_001317000.1:c.*523GT[6]

Select item 147618752114.

rs1476187521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55988208 (GRCh38)
19:56499574 (GRCh37)
Canonical SPDI:: NC_000019.10:55988207:A:G
Gene:: NLRP8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55988208A>G, NC_000019.9:g.56499574A>G, NG_046924.1:g.6426A>G, NG_051553.1:g.45377A>G, NM_176811.2:c.*295A>G, NM_001317000.1:c.*295A>G

Select item 147529834915.

rs1475298349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:55948123 (GRCh38)
19:56459489 (GRCh37)
Canonical SPDI:: NC_000019.10:55948122:A:G
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55948123A>G, NC_000019.9:g.56459489A>G, NG_051553.1:g.5292A>G, NM_176811.2:c.221A>G, NM_001317000.1:c.221A>G, NP_789781.2:p.Asp74Gly, NP_001303929.1:p.Asp74Gly

Select item 147465579416.

rs1474655794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55988085 (GRCh38)
19:56499451 (GRCh37)
Canonical SPDI:: NC_000019.10:55988084:C:T
Gene:: NLRP8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.55988085C>T, NC_000019.9:g.56499451C>T, NG_046924.1:g.6303C>T, NG_051553.1:g.45254C>T, NM_176811.2:c.*172C>T, NM_001317000.1:c.*172C>T

Select item 147328555117.

rs1473285551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55955346 (GRCh38)
19:56466712 (GRCh37)
Canonical SPDI:: NC_000019.10:55955345:T:C
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55955346T>C, NC_000019.9:g.56466712T>C, NG_051553.1:g.12515T>C, NM_176811.2:c.1288T>C, NM_001317000.1:c.1288T>C, NP_789781.2:p.Tyr430His, NP_001303929.1:p.Tyr430His

Select item 147323358318.

rs1473233583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:55976177 (GRCh38)
19:56487543 (GRCh37)
Canonical SPDI:: NC_000019.10:55976176:T:C
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.55976177T>C, NC_000019.9:g.56487543T>C, NG_051553.1:g.33346T>C, NM_176811.2:c.2750T>C, NM_001317000.1:c.2693T>C, NP_789781.2:p.Ile917Thr, NP_001303929.1:p.Ile898Thr

Select item 147300662219.

rs1473006622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:55955008 (GRCh38)
19:56466374 (GRCh37)
Canonical SPDI:: NC_000019.10:55955007:G:A
Gene:: NLRP8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.55955008G>A, NC_000019.9:g.56466374G>A, NG_051553.1:g.12177G>A, NM_176811.2:c.950G>A, NM_001317000.1:c.950G>A, NP_789781.2:p.Ser317Asn, NP_001303929.1:p.Ser317Asn

Select item 147295420920.

rs1472954209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:55955663 (GRCh38)
19:56467029 (GRCh37)
Canonical SPDI:: NC_000019.10:55955662:C:T
Gene:: NLRP8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000016/4 (GnomAD_exomes)
T=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.55955663C>T, NC_000019.9:g.56467029C>T, NG_051553.1:g.12832C>T, NM_176811.2:c.1605C>T, NM_001317000.1:c.1605C>T

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