SNP Links for Nucleotide (Select 282847412) - SNP

Links from Nucleotide

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Select item 14897947611.

rs1489794761 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:81715108 (GRCh38)
8:82627343 (GRCh37)
Canonical SPDI:: NC_000008.11:81715106:ACA:A
Gene:: ZFAND1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.81715108_81715109del, NC_000008.10:g.82627343_82627344del, NM_024699.3:c.145_146del, NM_024699.2:c.145_146del, NM_001170797.2:c.145_146del, NM_001170797.1:c.145_146del, NR_033196.2:n.124_125del, NR_033196.1:n.128_129del, NR_033193.1:n.128_129del, NM_001170796.1:c.145_146del, NR_033194.1:n.128_129del, NR_033195.1:n.106_107del, NP_078975.2:p.Val49fs, NP_001164268.1:p.Val49fs, NP_001164267.1:p.Val49fs

Select item 14890550812.

rs1489055081 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:81702061 (GRCh38)
8:82614296 (GRCh37)
Canonical SPDI:: NC_000008.11:81702060:T:A
Gene:: ZFAND1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.81702061T>A, NC_000008.10:g.82614296T>A, NM_024699.3:c.*634A>T, NM_024699.2:c.*634A>T, NR_033193.1:n.1466A>T, NM_001170796.1:c.*634A>T, NR_033194.1:n.1424A>T, NR_033195.1:n.1402A>T

Select item 14887486923.

rs1488748692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:81702768 (GRCh38)
8:82615003 (GRCh37)
Canonical SPDI:: NC_000008.11:81702767:C:T
Gene:: ZFAND1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81702768C>T, NC_000008.10:g.82615003C>T, NM_024699.3:c.734G>A, NM_024699.2:c.734G>A, NR_033193.1:n.759G>A, NM_001170796.1:c.713G>A, NR_033194.1:n.717G>A, NR_033195.1:n.695G>A, NP_078975.2:p.Gly245Asp, NP_001164267.1:p.Gly238Asp

Select item 14885303584.

rs1488530358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:81702673 (GRCh38)
8:82614908 (GRCh37)
Canonical SPDI:: NC_000008.11:81702672:T:C
Gene:: ZFAND1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_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_000008.11:g.81702673T>C, NC_000008.10:g.82614908T>C, NM_024699.3:c.*22A>G, NM_024699.2:c.*22A>G, NR_033193.1:n.854A>G, NM_001170796.1:c.*22A>G, NR_033194.1:n.812A>G, NR_033195.1:n.790A>G

Select item 14865953005.

rs1486595300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:81701682 (GRCh38)
8:82613917 (GRCh37)
Canonical SPDI:: NC_000008.11:81701681:A:G
Gene:: ZFAND1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.81701682A>G, NC_000008.10:g.82613917A>G, NM_024699.3:c.*1013T>C, NM_024699.2:c.*1013T>C, NR_033193.1:n.1845T>C, NM_001170796.1:c.*1013T>C, NR_033194.1:n.1803T>C, NR_033195.1:n.1781T>C

Select item 14825734936.

rs1482573493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:81702856 (GRCh38)
8:82615091 (GRCh37)
Canonical SPDI:: NC_000008.11:81702855:G:T
Gene:: ZFAND1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.81702856G>T, NC_000008.10:g.82615091G>T, NM_024699.3:c.646C>A, NM_024699.2:c.646C>A, NR_033193.1:n.671C>A, NM_001170796.1:c.625C>A, NR_033194.1:n.629C>A, NR_033195.1:n.607C>A, NP_078975.2:p.Leu216Met, NP_001164267.1:p.Leu209Met

Select item 14793055327.

rs1479305532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:81702112 (GRCh38)
8:82614347 (GRCh37)
Canonical SPDI:: NC_000008.11:81702111:T:G
Gene:: ZFAND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.81702112T>G, NC_000008.10:g.82614347T>G, NM_024699.3:c.*583A>C, NM_024699.2:c.*583A>C, NR_033193.1:n.1415A>C, NM_001170796.1:c.*583A>C, NR_033194.1:n.1373A>C, NR_033195.1:n.1351A>C

Select item 14787202978.

rs1478720297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:81701791 (GRCh38)
8:82614026 (GRCh37)
Canonical SPDI:: NC_000008.11:81701790:G:A
Gene:: ZFAND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0056/25 (ALFA)
A=0.0049/22 (Estonian)
HGVS:: NC_000008.11:g.81701791G>A, NC_000008.10:g.82614026G>A, NM_024699.3:c.*904C>T, NM_024699.2:c.*904C>T, NR_033193.1:n.1736C>T, NM_001170796.1:c.*904C>T, NR_033194.1:n.1694C>T, NR_033195.1:n.1672C>T

Select item 14777968619.

rs1477796861 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:81702339 (GRCh38)
8:82614574 (GRCh37)
Canonical SPDI:: NC_000008.11:81702336:AAAA:AA
Gene:: ZFAND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81702339_81702340del, NC_000008.10:g.82614574_82614575del, NM_024699.3:c.*357_*358del, NM_024699.2:c.*357_*358del, NR_033193.1:n.1189_1190del, NM_001170796.1:c.*357_*358del, NR_033194.1:n.1147_1148del, NR_033195.1:n.1125_1126del

Select item 147714109410.

rs1477141094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:81721295 (GRCh38)
8:82633530 (GRCh37)
Canonical SPDI:: NC_000008.11:81721294:T:C
Gene:: ZFAND1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81721295T>C, NC_000008.10:g.82633530T>C, NM_024699.3:c.-14A>G, NM_024699.2:c.-14A>G, NM_001170797.2:c.-14A>G, NM_001170797.1:c.-14A>G, NR_033196.2:n.6A>G, NR_033196.1:n.10A>G, NR_033193.1:n.10A>G, NM_001170796.1:c.-14A>G, NR_033194.1:n.10A>G, NR_033195.1:n.10A>G

Select item 147609322411.

rs1476093224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:81702832 (GRCh38)
8:82615067 (GRCh37)
Canonical SPDI:: NC_000008.11:81702831:C:T
Gene:: ZFAND1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.81702832C>T, NC_000008.10:g.82615067C>T, NM_024699.3:c.670G>A, NM_024699.2:c.670G>A, NR_033193.1:n.695G>A, NM_001170796.1:c.649G>A, NR_033194.1:n.653G>A, NR_033195.1:n.631G>A, NP_078975.2:p.Ala224Thr, NP_001164267.1:p.Ala217Thr

Select item 147582909812.

rs1475829098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:81701348 (GRCh38)
8:82613583 (GRCh37)
Canonical SPDI:: NC_000008.11:81701347:T:A
Gene:: ZFAND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.81701348T>A, NC_000008.10:g.82613583T>A, NM_024699.3:c.*1347A>T, NM_024699.2:c.*1347A>T, NR_033193.1:n.2179A>T, NM_001170796.1:c.*1347A>T, NR_033194.1:n.2137A>T, NR_033195.1:n.2115A>T

Select item 147211007013.

rs1472110070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:81702781 (GRCh38)
8:82615016 (GRCh37)
Canonical SPDI:: NC_000008.11:81702780:G:T
Gene:: ZFAND1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.81702781G>T, NC_000008.10:g.82615016G>T, NM_024699.3:c.721C>A, NM_024699.2:c.721C>A, NR_033193.1:n.746C>A, NM_001170796.1:c.700C>A, NR_033194.1:n.704C>A, NR_033195.1:n.682C>A, NP_078975.2:p.Pro241Thr, NP_001164267.1:p.Pro234Thr

Select item 147179599214.

rs1471795992 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:81702189 (GRCh38)
8:82614425 (GRCh37)
Canonical SPDI:: NC_000008.11:81702189:A:AA
Gene:: ZFAND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.81702190dup, NC_000008.10:g.82614425dup, NM_024699.3:c.*505dup, NM_024699.2:c.*505dup, NR_033193.1:n.1337dup, NM_001170796.1:c.*505dup, NR_033194.1:n.1295dup, NR_033195.1:n.1273dup

Select item 147178441215.

rs1471784412 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:81703105 (GRCh38)
8:82615340 (GRCh37)
Canonical SPDI:: NC_000008.11:81703104:T:C
Gene:: ZFAND1 (Varview)
Functional Consequence:: splice_acceptor_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.81703105T>C, NC_000008.10:g.82615340T>C, NM_024699.3:c.500A>G, NM_024699.2:c.500A>G, NM_001170797.2:c.500A>G, NM_001170797.1:c.500A>G, NR_033196.2:n.479A>G, NR_033196.1:n.483A>G, NR_033193.1:n.525A>G, NR_033194.1:n.483A>G, NR_033195.1:n.461A>G, NP_078975.2:p.Gln167Arg, NP_001164268.1:p.Gln167Arg

Select item 147169494716.

rs1471694947 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:81702567 (GRCh38)
8:82614802 (GRCh37)
Canonical SPDI:: NC_000008.11:81702566:T:C
Gene:: ZFAND1 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.81702567T>C, NC_000008.10:g.82614802T>C, NM_024699.3:c.*128A>G, NM_024699.2:c.*128A>G, NR_033193.1:n.960A>G, NM_001170796.1:c.*128A>G, NR_033194.1:n.918A>G, NR_033195.1:n.896A>G

Select item 147042383517.

rs1470423835 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:81714020 (GRCh38)
8:82626255 (GRCh37)
Canonical SPDI:: NC_000008.11:81714019:T:A
Gene:: ZFAND1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000008.11:g.81714020T>A, NC_000008.10:g.82626255T>A, NM_024699.3:c.378A>T, NM_024699.2:c.378A>T, NM_001170797.2:c.378A>T, NM_001170797.1:c.378A>T, NR_033196.2:n.357A>T, NR_033196.1:n.361A>T, NR_033193.1:n.361A>T, NM_001170796.1:c.378A>T, NR_033194.1:n.361A>T, NR_033195.1:n.339A>T

Select item 146972803818.

rs1469728038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:81721238 (GRCh38)
8:82633473 (GRCh37)
Canonical SPDI:: NC_000008.11:81721237:C:A,NC_000008.11:81721237:C:T
Gene:: ZFAND1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.81721238C>A, NC_000008.11:g.81721238C>T, NC_000008.10:g.82633473C>A, NC_000008.10:g.82633473C>T, NM_024699.3:c.44G>T, NM_024699.3:c.44G>A, NM_024699.2:c.44G>T, NM_024699.2:c.44G>A, NM_001170797.2:c.44G>T, NM_001170797.2:c.44G>A, NM_001170797.1:c.44G>T, NM_001170797.1:c.44G>A, NR_033196.2:n.63G>T, NR_033196.2:n.63G>A, NR_033196.1:n.67G>T, NR_033196.1:n.67G>A, NR_033193.1:n.67G>T, NR_033193.1:n.67G>A, NM_001170796.1:c.44G>T, NM_001170796.1:c.44G>A, NR_033194.1:n.67G>T, NR_033194.1:n.67G>A, NP_078975.2:p.Cys15Phe, NP_078975.2:p.Cys15Tyr, NP_001164268.1:p.Cys15Phe, NP_001164268.1:p.Cys15Tyr, NP_001164267.1:p.Cys15Phe, NP_001164267.1:p.Cys15Tyr

Select item 146954235619.

rs1469542356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:81702302 (GRCh38)
8:82614537 (GRCh37)
Canonical SPDI:: NC_000008.11:81702301:T:C
Gene:: ZFAND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_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_000008.11:g.81702302T>C, NC_000008.10:g.82614537T>C, NM_024699.3:c.*393A>G, NM_024699.2:c.*393A>G, NR_033193.1:n.1225A>G, NM_001170796.1:c.*393A>G, NR_033194.1:n.1183A>G, NR_033195.1:n.1161A>G

Select item 146948805320.

rs1469488053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:81701513 (GRCh38)
8:82613748 (GRCh37)
Canonical SPDI:: NC_000008.11:81701512:A:G
Gene:: ZFAND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.81701513A>G, NC_000008.10:g.82613748A>G, NM_024699.3:c.*1182T>C, NM_024699.2:c.*1182T>C, NR_033193.1:n.2014T>C, NM_001170796.1:c.*1182T>C, NR_033194.1:n.1972T>C, NR_033195.1:n.1950T>C

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