SNP Links for Nucleotide (Select 189181650) - SNP

Links from Nucleotide

Items: 1 to 20 of 71

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Select item 14869477651.

rs1486947765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:20136147 (GRCh38)
X:20154265 (GRCh37)
Canonical SPDI:: NC_000023.11:20136146:G:C
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.20136147G>C, NC_000023.10:g.20154265G>C, NR_023358.1:n.267C>G

Select item 14746640322.

rs1474664032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:20136130 (GRCh38)
X:20154248 (GRCh37)
Canonical SPDI:: NC_000023.11:20136129:T:C
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.20136130T>C, NC_000023.10:g.20154248T>C, NR_023358.1:n.284A>G

Select item 14743748883.

rs1474374888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:20136400 (GRCh38)
X:20154518 (GRCh37)
Canonical SPDI:: NC_000023.11:20136399:C:G
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.20136400C>G, NC_000023.10:g.20154518C>G, NR_023358.1:n.14G>C

Select item 14723783954.

rs1472378395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:20136164 (GRCh38)
X:20154282 (GRCh37)
Canonical SPDI:: NC_000023.11:20136163:A:C
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.20136164A>C, NC_000023.10:g.20154282A>C, NR_023358.1:n.250T>G

Select item 14602310735.

rs1460231073 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:20136218 (GRCh38)
X:20154336 (GRCh37)
Canonical SPDI:: NC_000023.11:20136216:AAA:A
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000238/63 (TOPMED)
-=0.000252/26 (GnomAD)
-=0.000832/4 (1000Genomes)
HGVS:: NC_000023.11:g.20136218_20136219del, NC_000023.10:g.20154336_20154337del, NR_023358.1:n.196_197del

Select item 14402302866.

rs1440230286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:20136257 (GRCh38)
X:20154375 (GRCh37)
Canonical SPDI:: NC_000023.11:20136256:C:T
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.20136257C>T, NC_000023.10:g.20154375C>T, NR_023358.1:n.157G>A

Select item 14207569767.

rs1420756976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:20136407 (GRCh38)
X:20154525 (GRCh37)
Canonical SPDI:: NC_000023.11:20136406:C:G
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00027/5 (ALFA)
G=0.000068/18 (TOPMED)
G=0.000086/9 (GnomAD)
HGVS:: NC_000023.11:g.20136407C>G, NC_000023.10:g.20154525C>G, NR_023358.1:n.7G>C

Select item 14205397748.

rs1420539774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:20136113 (GRCh38)
X:20154231 (GRCh37)
Canonical SPDI:: NC_000023.11:20136112:G:A
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.20136113G>A, NC_000023.10:g.20154231G>A, NR_023358.1:n.301C>T

Select item 14179289519.

rs1417928951 has merged into rs758772869 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC,ACACACAC [Show Flanks]
Chromosome:: X:20136243 (GRCh38)
X:20154361 (GRCh37)
Canonical SPDI:: NC_000023.11:20136231:CACACACACACACAC:CACACACACAC,NC_000023.11:20136231:CACACACACACACAC:CACACACACACAC,NC_000023.11:20136231:CACACACACACACAC:CACACACACACACACAC,NC_000023.11:20136231:CACACACACACACAC:CACACACACACACACACAC
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACAC=0./0 (ALFA)
CA=0.00104/4 (1000Genomes)
CA=0.00985/127 (TOMMO)
CA=0.04167/2 (Vietnamese)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000023.11:g.20136233AC[5], NC_000023.11:g.20136233AC[6], NC_000023.11:g.20136233AC[8], NC_000023.11:g.20136233AC[9], NC_000023.10:g.20154351AC[5], NC_000023.10:g.20154351AC[6], NC_000023.10:g.20154351AC[8], NC_000023.10:g.20154351AC[9], NR_023358.1:n.169TG[5], NR_023358.1:n.169TG[6], NR_023358.1:n.169TG[8], NR_023358.1:n.169TG[9]

Select item 141648441310.

rs1416484413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:20136169 (GRCh38)
X:20154287 (GRCh37)
Canonical SPDI:: NC_000023.11:20136168:C:T
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.20136169C>T, NC_000023.10:g.20154287C>T, NR_023358.1:n.245G>A

Select item 141631512411.

rs1416315124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:20136291 (GRCh38)
X:20154409 (GRCh37)
Canonical SPDI:: NC_000023.11:20136290:T:C
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.20136291T>C, NC_000023.10:g.20154409T>C, NR_023358.1:n.123A>G

Select item 141496062212.

rs1414960622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:20136238 (GRCh38)
X:20154356 (GRCh37)
Canonical SPDI:: NC_000023.11:20136237:C:A
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.20136238C>A, NC_000023.10:g.20154356C>A, NR_023358.1:n.176G>T

Select item 140946356713.

rs1409463567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:20136302 (GRCh38)
X:20154420 (GRCh37)
Canonical SPDI:: NC_000023.11:20136301:T:C
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.20136302T>C, NC_000023.10:g.20154420T>C, NR_023358.1:n.112A>G

Select item 134940592714.

rs1349405927 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCACACACACACC>- [Show Flanks]
Chromosome:: X:20136248 (GRCh38)
X:20154366 (GRCh37)
Canonical SPDI:: NC_000023.11:20136235:CACACACACACCCCCCACACACACACC:CACACACACACC
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACC=0.000054/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
-=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.20136248_20136262del, NC_000023.10:g.20154366_20154380del, NR_023358.1:n.164_178del

Select item 133255671815.

rs1332556718 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACCCCCCACACACACAC>- [Show Flanks]
Chromosome:: X:20136241 (GRCh38)
X:20154359 (GRCh37)
Canonical SPDI:: NC_000023.11:20136231:CACACACACACACACCCCCCACACACACAC:CACACACAC
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACACACAC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.20136241_20136261del, NC_000023.10:g.20154359_20154379del, NR_023358.1:n.162_182del

Select item 132696195316.

rs1326961953 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:20136274 (GRCh38)
X:20154392 (GRCh37)
Canonical SPDI:: NC_000023.11:20136273:C:A
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.20136274C>A, NC_000023.10:g.20154392C>A, NR_023358.1:n.140G>T

Select item 130768656717.

rs1307686567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:20136154 (GRCh38)
X:20154272 (GRCh37)
Canonical SPDI:: NC_000023.11:20136153:A:G
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.20136154A>G, NC_000023.10:g.20154272A>G, NR_023358.1:n.260T>C

Select item 127751132618.

rs1277511326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:20136150 (GRCh38)
X:20154268 (GRCh37)
Canonical SPDI:: NC_000023.11:20136149:T:A
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.20136150T>A, NC_000023.10:g.20154268T>A, NR_023358.1:n.264A>T

Select item 127474192119.

rs1274741921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:20136161 (GRCh38)
X:20154279 (GRCh37)
Canonical SPDI:: NC_000023.11:20136160:T:C
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.20136161T>C, NC_000023.10:g.20154279T>C, NR_023358.1:n.253A>G

Select item 127232212720.

rs1272322127 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:20136343 (GRCh38)
X:20154461 (GRCh37)
Canonical SPDI:: NC_000023.11:20136342:AAA:AA
Gene:: EIF1AX (Varview), SCARNA9L (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.20136345del, NC_000023.10:g.20154463del, NR_023358.1:n.71del

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