SNP Links for Nucleotide (Select 262206266) - SNP

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Links from Nucleotide

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Select item 14746669171.

rs1474666917 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:1986440 (GRCh38)
4:1988167 (GRCh37)
Canonical SPDI:: NC_000004.12:1986439:A:G
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1986440A>G, NC_000004.11:g.1988167A>G, NG_009232.1:g.27793T>C, NR_030641.1:n.38T>C

Select item 14699327472.

rs1469932747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:1986427 (GRCh38)
4:1988154 (GRCh37)
Canonical SPDI:: NC_000004.12:1986426:G:A
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000004.12:g.1986427G>A, NC_000004.11:g.1988154G>A, NG_009232.1:g.27806C>T, NR_030641.1:n.51C>T

Select item 14605974823.

rs1460597482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:1986395 (GRCh38)
4:1988122 (GRCh37)
Canonical SPDI:: NC_000004.12:1986394:G:T
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.1986395G>T, NC_000004.11:g.1988122G>T, NG_009232.1:g.27838C>A, NM_005663.5:c.642C>A, NM_005663.4:c.675C>A, XM_017008589.3:c.726C>A, XM_017008589.2:c.759C>A, XM_017008589.1:c.759C>A, NR_030641.1:n.83C>A

Select item 14371233304.

rs1437123330 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC,TC [Show Flanks]
Chromosome:: 4:1986459 (GRCh38)
4:1988187 (GRCh37)
Canonical SPDI:: NC_000004.12:1986459:C:CGC,NC_000004.12:1986459:C:CTC
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTC=0./0 (ALFA)
HGVS:: NC_000004.12:g.1986460_1986461insGC, NC_000004.12:g.1986460_1986461insTC, NC_000004.11:g.1988187_1988188insGC, NC_000004.11:g.1988187_1988188insTC, NG_009232.1:g.27773_27774insCG, NG_009232.1:g.27773_27774insAG, NR_030641.1:n.18_19insCG, NR_030641.1:n.18_19insAG

Select item 14354702785.

rs1435470278 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:1986433 (GRCh38)
4:1988160 (GRCh37)
Canonical SPDI:: NC_000004.12:1986432:A:G
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.1986433A>G, NC_000004.11:g.1988160A>G, NG_009232.1:g.27800T>C, NR_030641.1:n.45T>C

Select item 14264015236.

rs1426401523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:1986475 (GRCh38)
4:1988202 (GRCh37)
Canonical SPDI:: NC_000004.12:1986474:C:G
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1986475C>G, NC_000004.11:g.1988202C>G, NG_009232.1:g.27758G>C, NR_030641.1:n.3G>C

Select item 13917752877.

rs1391775287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:1986393 (GRCh38)
4:1988120 (GRCh37)
Canonical SPDI:: NC_000004.12:1986392:T:C
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.1986393T>C, NC_000004.11:g.1988120T>C, NG_009232.1:g.27840A>G, NM_005663.5:c.644A>G, NM_005663.4:c.677A>G, XM_017008589.3:c.728A>G, XM_017008589.2:c.761A>G, XM_017008589.1:c.761A>G, NR_030641.1:n.85A>G, NP_005654.4:p.Lys215Arg, XP_016864078.2:p.Lys243Arg

Select item 12971266278.

rs1297126627 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCACCCCGAGCTCAGAACGTCCC>- [Show Flanks]
Chromosome:: 4:1986455 (GRCh38)
4:1988182 (GRCh37)
Canonical SPDI:: NC_000004.12:1986446:AACGTCCCCCACCCCGAGCTCAGAACGTCCC:AACGTCCC
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AACGTCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1986455_1986477del, NC_000004.11:g.1988182_1988204del, NG_009232.1:g.27764_27786del, NR_030641.1:n.9_31del

Select item 12905353499.

rs1290535349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:1986451 (GRCh38)
4:1988178 (GRCh37)
Canonical SPDI:: NC_000004.12:1986450:T:C
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1986451T>C, NC_000004.11:g.1988178T>C, NG_009232.1:g.27782A>G, NR_030641.1:n.27A>G

Select item 125083140610.

rs1250831406 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:1986462 (GRCh38)
4:1988189 (GRCh37)
Canonical SPDI:: NC_000004.12:1986461:G:A
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000014/2 (GnomAD_exomes)
A=0.000035/0 (TOMMO)
HGVS:: NC_000004.12:g.1986462G>A, NC_000004.11:g.1988189G>A, NG_009232.1:g.27771C>T, NR_030641.1:n.16C>T

Select item 124979601411.

rs1249796014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:1986430 (GRCh38)
4:1988157 (GRCh37)
Canonical SPDI:: NC_000004.12:1986429:A:G
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000004.12:g.1986430A>G, NC_000004.11:g.1988157A>G, NG_009232.1:g.27803T>C, NR_030641.1:n.48T>C

Select item 120247330812.

rs1202473308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:1986459 (GRCh38)
4:1988186 (GRCh37)
Canonical SPDI:: NC_000004.12:1986458:C:A
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000115/1 (ALFA)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1986459C>A, NC_000004.11:g.1988186C>A, NG_009232.1:g.27774G>T, NR_030641.1:n.19G>T

Select item 119838046513.

rs1198380465 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,T [Show Flanks]
Chromosome:: 4:1986460 (GRCh38)
4:1988188 (GRCh37)
Canonical SPDI:: NC_000004.12:1986460::G,NC_000004.12:1986460::T
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.1986460_1986461insG, NC_000004.12:g.1986460_1986461insT, NC_000004.11:g.1988187_1988188insG, NC_000004.11:g.1988187_1988188insT, NG_009232.1:g.27772_27773insC, NG_009232.1:g.27772_27773insA, NR_030641.1:n.17_18insC, NR_030641.1:n.17_18insA

Select item 119437003414.

rs1194370034 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:1986425 (GRCh38)
4:1988152 (GRCh37)
Canonical SPDI:: NC_000004.12:1986424:G:A
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000004.12:g.1986425G>A, NC_000004.11:g.1988152G>A, NG_009232.1:g.27808C>T, NR_030641.1:n.53C>T

Select item 117488737915.

rs1174887379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:1986457 (GRCh38)
4:1988184 (GRCh37)
Canonical SPDI:: NC_000004.12:1986456:A:C
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.1986457A>C, NC_000004.11:g.1988184A>C, NG_009232.1:g.27776T>G, NR_030641.1:n.21T>G

Select item 116527998616.

rs1165279986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1986441 (GRCh38)
4:1988168 (GRCh37)
Canonical SPDI:: NC_000004.12:1986440:C:T
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1986441C>T, NC_000004.11:g.1988168C>T, NG_009232.1:g.27792G>A, NR_030641.1:n.37G>A

Select item 105271084717.

rs1052710847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1986460 (GRCh38)
4:1988187 (GRCh37)
Canonical SPDI:: NC_000004.12:1986459:C:T
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000004.12:g.1986460C>T, NC_000004.11:g.1988187C>T, NG_009232.1:g.27773G>A, NR_030641.1:n.18G>A

Select item 103614796718.

rs1036147967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:1986471 (GRCh38)
4:1988198 (GRCh37)
Canonical SPDI:: NC_000004.12:1986470:A:G
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.1986471A>G, NC_000004.11:g.1988198A>G, NG_009232.1:g.27762T>C, NR_030641.1:n.7T>C

Select item 103489078319.

rs1034890783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:1986398 (GRCh38)
4:1988125 (GRCh37)
Canonical SPDI:: NC_000004.12:1986397:T:A
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.1986398T>A, NC_000004.11:g.1988125T>A, NG_009232.1:g.27835A>T, NM_005663.5:c.639A>T, NM_005663.4:c.672A>T, XM_017008589.3:c.723A>T, XM_017008589.2:c.756A>T, XM_017008589.1:c.756A>T, NR_030641.1:n.80A>T

Select item 102516176920.

rs1025161769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:1986409 (GRCh38)
4:1988136 (GRCh37)
Canonical SPDI:: NC_000004.12:1986408:G:A
Gene:: NELFA (Varview), MIR943 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000004.12:g.1986409G>A, NC_000004.11:g.1988136G>A, NG_009232.1:g.27824C>T, NR_030641.1:n.69C>T

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