SNP Links for Nucleotide (Select 262205450) - SNP

Links from Nucleotide

Items: 19

Select item 14185048391.

rs1418504839 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 14:100881915 (GRCh38)
14:101348252 (GRCh37)
Canonical SPDI:: NC_000014.9:100881911:ATTATT:ATT
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100881912ATT[1], NC_000014.8:g.101348249ATT[1], NG_045000.6:g.50644ATT[1], NG_045001.2:g.26806AAT[1], NM_001134888.3:c.2872AAT[1], NM_001134888.2:c.2872AAT[1], XM_047431358.1:c.2872AAT[1], NR_029966.1:n.27ATT[1], NP_001128360.1:p.Asn959del, XP_047287314.1:p.Asn959del

Select item 13939252512.

rs1393925251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:100881927 (GRCh38)
14:101348264 (GRCh37)
Canonical SPDI:: NC_000014.9:100881926:T:C
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100881927T>C, NC_000014.8:g.101348264T>C, NG_045000.6:g.50659T>C, NG_045001.2:g.26796A>G, NM_001134888.3:c.2862A>G, NM_001134888.2:c.2862A>G, XM_047431358.1:c.2862A>G, NR_029966.1:n.42T>C

Select item 13867280273.

rs1386728027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100881920 (GRCh38)
14:101348257 (GRCh37)
Canonical SPDI:: NC_000014.9:100881919:G:A
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.100881920G>A, NC_000014.8:g.101348257G>A, NG_045000.6:g.50652G>A, NG_045001.2:g.26803C>T, NM_001134888.3:c.2869C>T, NM_001134888.2:c.2869C>T, XM_047431358.1:c.2869C>T, NR_029966.1:n.35G>A

Select item 13836743144.

rs1383674314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:100881888 (GRCh38)
14:101348225 (GRCh37)
Canonical SPDI:: NC_000014.9:100881887:G:A,NC_000014.9:100881887:G:C
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00055/1 (Korea1K)
C=0.00068/2 (KOREAN)
HGVS:: NC_000014.9:g.100881888G>A, NC_000014.9:g.100881888G>C, NC_000014.8:g.101348225G>A, NC_000014.8:g.101348225G>C, NG_045000.6:g.50620G>A, NG_045000.6:g.50620G>C, NG_045001.2:g.26835C>T, NG_045001.2:g.26835C>G, NM_001134888.3:c.2901C>T, NM_001134888.3:c.2901C>G, NM_001134888.2:c.2901C>T, NM_001134888.2:c.2901C>G, XM_047431358.1:c.2901C>T, XM_047431358.1:c.2901C>G, NR_029966.1:n.3G>A, NR_029966.1:n.3G>C

Select item 13779792835.

rs1377979283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100881909 (GRCh38)
14:101348246 (GRCh37)
Canonical SPDI:: NC_000014.9:100881908:G:A
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000014.9:g.100881909G>A, NC_000014.8:g.101348246G>A, NG_045000.6:g.50641G>A, NG_045001.2:g.26814C>T, NM_001134888.3:c.2880C>T, NM_001134888.2:c.2880C>T, XM_047431358.1:c.2880C>T, NR_029966.1:n.24G>A

Select item 13333316736.

rs1333331673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100881945 (GRCh38)
14:101348282 (GRCh37)
Canonical SPDI:: NC_000014.9:100881944:A:G
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100881945A>G, NC_000014.8:g.101348282A>G, NG_045000.6:g.50677A>G, NG_045001.2:g.26778T>C, NM_001134888.3:c.2844T>C, NM_001134888.2:c.2844T>C, XM_047431358.1:c.2844T>C, NR_029966.1:n.60A>G

Select item 12889170477.

rs1288917047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100881919 (GRCh38)
14:101348256 (GRCh37)
Canonical SPDI:: NC_000014.9:100881918:A:G
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100881919A>G, NC_000014.8:g.101348256A>G, NG_045000.6:g.50651A>G, NG_045001.2:g.26804T>C, NM_001134888.3:c.2870T>C, NM_001134888.2:c.2870T>C, XM_047431358.1:c.2870T>C, NR_029966.1:n.34A>G, NP_001128360.1:p.Leu957Pro, XP_047287314.1:p.Leu957Pro

Select item 12618198068.

rs1261819806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:100881966 (GRCh38)
14:101348303 (GRCh37)
Canonical SPDI:: NC_000014.9:100881965:G:T
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.100881966G>T, NC_000014.8:g.101348303G>T, NG_045000.6:g.50698G>T, NG_045001.2:g.26757C>A, NM_001134888.3:c.2823C>A, NM_001134888.2:c.2823C>A, XM_047431358.1:c.2823C>A, NR_029966.1:n.81G>T

Select item 12614922729.

rs1261492272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:100881916 (GRCh38)
14:101348253 (GRCh37)
Canonical SPDI:: NC_000014.9:100881915:T:G
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.100881916T>G, NC_000014.8:g.101348253T>G, NG_045000.6:g.50648T>G, NG_045001.2:g.26807A>C, NM_001134888.3:c.2873A>C, NM_001134888.2:c.2873A>C, XM_047431358.1:c.2873A>C, NR_029966.1:n.31T>G, NP_001128360.1:p.Asn958Thr, XP_047287314.1:p.Asn958Thr

Select item 118733842010.

rs1187338420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:100881894 (GRCh38)
14:101348231 (GRCh37)
Canonical SPDI:: NC_000014.9:100881893:A:G
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.100881894A>G, NC_000014.8:g.101348231A>G, NG_045000.6:g.50626A>G, NG_045001.2:g.26829T>C, NM_001134888.3:c.2895T>C, NM_001134888.2:c.2895T>C, XM_047431358.1:c.2895T>C, NR_029966.1:n.9A>G

Select item 118508080211.

rs1185080802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:100881923 (GRCh38)
14:101348260 (GRCh37)
Canonical SPDI:: NC_000014.9:100881922:A:C
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.100881923A>C, NC_000014.8:g.101348260A>C, NG_045000.6:g.50655A>C, NG_045001.2:g.26800T>G, NM_001134888.3:c.2866T>G, NM_001134888.2:c.2866T>G, XM_047431358.1:c.2866T>G, NR_029966.1:n.38A>C, NP_001128360.1:p.Ser956Ala, XP_047287314.1:p.Ser956Ala

Select item 115732482812.

rs1157324828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:100881902 (GRCh38)
14:101348239 (GRCh37)
Canonical SPDI:: NC_000014.9:100881901:T:C
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100881902T>C, NC_000014.8:g.101348239T>C, NG_045000.6:g.50634T>C, NG_045001.2:g.26821A>G, NM_001134888.3:c.2887A>G, NM_001134888.2:c.2887A>G, XM_047431358.1:c.2887A>G, NR_029966.1:n.17T>C, NP_001128360.1:p.Thr963Ala, XP_047287314.1:p.Thr963Ala

Select item 105044445713.

rs1050444457 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCCTCTGTGTTGAGAAG>- [Show Flanks]
Chromosome:: 14:100881930 (GRCh38)
14:101348267 (GRCh37)
Canonical SPDI:: NC_000014.9:100881927:AGATCCTCTGTGTTGAGAAG:AG
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.100881930_100881947del, NC_000014.8:g.101348267_101348284del, NG_045000.6:g.50662_50679del, NG_045001.2:g.26778_26795del, NM_001134888.3:c.2844_2861del, NM_001134888.2:c.2844_2861del, XM_047431358.1:c.2844_2861del, NR_029966.1:n.45_62del, NP_001128360.1:p.Leu949_Leu954del, XP_047287314.1:p.Leu949_Leu954del

Select item 100031757114.

rs1000317571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100881905 (GRCh38)
14:101348242 (GRCh37)
Canonical SPDI:: NC_000014.9:100881904:G:A
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000014.9:g.100881905G>A, NC_000014.8:g.101348242G>A, NG_045000.6:g.50637G>A, NG_045001.2:g.26818C>T, NM_001134888.3:c.2884C>T, NM_001134888.2:c.2884C>T, XM_047431358.1:c.2884C>T, NR_029966.1:n.20G>A, NP_001128360.1:p.Leu962Phe, XP_047287314.1:p.Leu962Phe

Select item 78142549615.

rs781425496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:100881965 (GRCh38)
14:101348302 (GRCh37)
Canonical SPDI:: NC_000014.9:100881964:C:T
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
HGVS:: NC_000014.9:g.100881965C>T, NC_000014.8:g.101348302C>T, NG_045000.6:g.50697C>T, NG_045001.2:g.26758G>A, NM_001134888.3:c.2824G>A, NM_001134888.2:c.2824G>A, XM_047431358.1:c.2824G>A, NR_029966.1:n.80C>T, NP_001128360.1:p.Glu942Lys, XP_047287314.1:p.Glu942Lys

Select item 77811479016.

rs778114790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:100881899 (GRCh38)
14:101348236 (GRCh37)
Canonical SPDI:: NC_000014.9:100881898:C:T
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/1 (ExAC)
T=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.100881899C>T, NC_000014.8:g.101348236C>T, NG_045000.6:g.50631C>T, NG_045001.2:g.26824G>A, NM_001134888.3:c.2890G>A, NM_001134888.2:c.2890G>A, XM_047431358.1:c.2890G>A, NR_029966.1:n.14C>T, NP_001128360.1:p.Val964Ile, XP_047287314.1:p.Val964Ile

Select item 75763355617.

rs757633556 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:100881956 (GRCh38)
14:101348293 (GRCh37)
Canonical SPDI:: NC_000014.9:100881955:T:A
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000008/1 (ExAC)
HGVS:: NC_000014.9:g.100881956T>A, NC_000014.8:g.101348293T>A, NG_045000.6:g.50688T>A, NG_045001.2:g.26767A>T, NM_001134888.3:c.2833A>T, NM_001134888.2:c.2833A>T, XM_047431358.1:c.2833A>T, NR_029966.1:n.71T>A, NP_001128360.1:p.Ile945Phe, XP_047287314.1:p.Ile945Phe

Select item 74730501018.

rs747305010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:100881900 (GRCh38)
14:101348237 (GRCh37)
Canonical SPDI:: NC_000014.9:100881899:G:A
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000033/4 (ExAC)
A=0.000056/14 (GnomAD_exomes)
HGVS:: NC_000014.9:g.100881900G>A, NC_000014.8:g.101348237G>A, NG_045000.6:g.50632G>A, NG_045001.2:g.26823C>T, NM_001134888.3:c.2889C>T, NM_001134888.2:c.2889C>T, XM_047431358.1:c.2889C>T, NR_029966.1:n.15G>A

Select item 53993477019.

rs539934770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:100881938 (GRCh38)
14:101348275 (GRCh37)
Canonical SPDI:: NC_000014.9:100881937:T:A
Gene:: RTL1 (Varview), MIR127 (Varview), MIR433 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000014.9:g.100881938T>A, NC_000014.8:g.101348275T>A, NG_045000.6:g.50670T>A, NG_045001.2:g.26785A>T, NM_001134888.3:c.2851A>T, NM_001134888.2:c.2851A>T, XM_047431358.1:c.2851A>T, NR_029966.1:n.53T>A, NP_001128360.1:p.Thr951Ser, XP_047287314.1:p.Thr951Ser

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Links from Nucleotide

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