SNP Links for Nucleotide (Select 40254909) - SNP

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Links from Nucleotide

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Select item 14807814971.

rs1480781497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135158221 (GRCh38)
X:134292146 (GRCh37)
Canonical SPDI:: NC_000023.11:135158220:A:G
Gene:: CT55 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.135158221A>G, NW_004070887.1:g.89365A>G, NC_000023.10:g.134292146A>G, NM_001031705.3:c.515T>C, NM_001031705.2:c.515T>C, NM_017863.2:c.515T>C, NP_001026875.1:p.Ile172Thr, NP_060333.1:p.Ile172Thr

Select item 14782800262.

rs1478280026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:135171719 (GRCh38)
X:134305643 (GRCh37)
Canonical SPDI:: NC_000023.11:135171718:C:A,NC_000023.11:135171718:C:T
Gene:: CT55 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.135171719C>A, NC_000023.11:g.135171719C>T, NW_004070887.1:g.102863C>A, NW_004070887.1:g.102863C>T, NC_000023.10:g.134305643C>A, NC_000023.10:g.134305643C>T, NM_017863.2:c.-548G>T, NM_017863.2:c.-548G>A, NM_001031705.2:c.-548G>T, NM_001031705.2:c.-548G>A

Select item 14732648273.

rs1473264827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:135171386 (GRCh38)
X:134305310 (GRCh37)
Canonical SPDI:: NC_000023.11:135171385:G:T
Gene:: CT55 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135171386G>T, NW_004070887.1:g.102530G>T, NC_000023.10:g.134305310G>T, NM_001031705.3:c.-215C>A, NM_001031705.2:c.-215C>A, NM_017863.2:c.-215C>A

Select item 14661480634.

rs1466148063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135171421 (GRCh38)
X:134305345 (GRCh37)
Canonical SPDI:: NC_000023.11:135171420:G:A
Gene:: CT55 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000038/10 (TOPMED)
A=0.000067/7 (GnomAD)
HGVS:: NC_000023.11:g.135171421G>A, NW_004070887.1:g.102565G>A, NC_000023.10:g.134305345G>A, NM_017863.2:c.-250C>T, NM_001031705.2:c.-250C>T

Select item 14658309145.

rs1465830914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:135171085 (GRCh38)
X:134305009 (GRCh37)
Canonical SPDI:: NC_000023.11:135171084:G:A
Gene:: CT55 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.135171085G>A, NW_004070887.1:g.102229G>A, NC_000023.10:g.134305009G>A, NM_001031705.3:c.87C>T, NM_001031705.2:c.87C>T, NM_017863.2:c.87C>T

Select item 14635304396.

rs1463530439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:135171306 (GRCh38)
X:134305230 (GRCh37)
Canonical SPDI:: NC_000023.11:135171305:T:C
Gene:: CT55 (Varview)
Functional Consequence:: 5_prime_UTR_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.135171306T>C, NW_004070887.1:g.102450T>C, NC_000023.10:g.134305230T>C, NM_001031705.3:c.-135A>G, NM_001031705.2:c.-135A>G, NM_017863.2:c.-135A>G

Select item 14589363597.

rs1458936359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135171382 (GRCh38)
X:134305306 (GRCh37)
Canonical SPDI:: NC_000023.11:135171381:C:T
Gene:: CT55 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000048/5 (GnomAD)
T=0.000072/19 (TOPMED)
HGVS:: NC_000023.11:g.135171382C>T, NW_004070887.1:g.102526C>T, NC_000023.10:g.134305306C>T, NM_001031705.3:c.-211G>A, NM_001031705.2:c.-211G>A, NM_017863.2:c.-211G>A

Select item 14474321348.

rs1447432134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:135171396 (GRCh38)
X:134305320 (GRCh37)
Canonical SPDI:: NC_000023.11:135171395:T:G
Gene:: CT55 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.135171396T>G, NW_004070887.1:g.102540T>G, NC_000023.10:g.134305320T>G, NM_001031705.3:c.-225A>C, NM_001031705.2:c.-225A>C, NM_017863.2:c.-225A>C

Select item 14441868419.

rs1444186841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:135171805 (GRCh38)
X:134305729 (GRCh37)
Canonical SPDI:: NC_000023.11:135171804:G:A,NC_000023.11:135171804:G:C
Gene:: CT55 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135171805G>A, NC_000023.11:g.135171805G>C, NW_004070887.1:g.102949G>A, NW_004070887.1:g.102949G>C, NC_000023.10:g.134305729G>A, NC_000023.10:g.134305729G>C, NM_017863.2:c.-634C>T, NM_017863.2:c.-634C>G, NM_001031705.2:c.-634C>T, NM_001031705.2:c.-634C>G

Select item 144315579710.

rs1443155797 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: X:135171290 (GRCh38)
X:134305214 (GRCh37)
Canonical SPDI:: NC_000023.11:135171286:CTCCTC:CTC
Gene:: CT55 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135171287CTC[1], NW_004070887.1:g.102431CTC[1], NC_000023.10:g.134305211CTC[1], NM_001031705.3:c.-121GAG[1], NM_001031705.2:c.-121GAG[1], NM_017863.2:c.-121GAG[1]

Select item 143883238011.

rs1438832380 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135160415 (GRCh38)
X:134294340 (GRCh37)
Canonical SPDI:: NC_000023.11:135160414:A:G
Gene:: CT55 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135160415A>G, NW_004070887.1:g.91559A>G, NC_000023.10:g.134294340A>G, NM_001031705.3:c.420T>C, NM_001031705.2:c.420T>C, NM_017863.2:c.420T>C

Select item 143735792012.

rs1437357920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:135171618 (GRCh38)
X:134305542 (GRCh37)
Canonical SPDI:: NC_000023.11:135171617:C:T
Gene:: CT55 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/2 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000685/2 (KOREAN)
HGVS:: NC_000023.11:g.135171618C>T, NW_004070887.1:g.102762C>T, NC_000023.10:g.134305542C>T, NM_017863.2:c.-447G>A, NM_001031705.2:c.-447G>A

Select item 143427187313.

rs1434271873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:135158281 (GRCh38)
X:134292206 (GRCh37)
Canonical SPDI:: NC_000023.11:135158280:T:G
Gene:: CT55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.135158281T>G, NW_004070887.1:g.89425T>G, NC_000023.10:g.134292206T>G, NM_001031705.3:c.455A>C, NM_001031705.2:c.455A>C, NM_017863.2:c.455A>C, NP_001026875.1:p.Glu152Ala, NP_060333.1:p.Glu152Ala

Select item 143331757514.

rs1433317575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135171362 (GRCh38)
X:134305286 (GRCh37)
Canonical SPDI:: NC_000023.11:135171361:A:G
Gene:: CT55 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.135171362A>G, NW_004070887.1:g.102506A>G, NC_000023.10:g.134305286A>G, NM_001031705.3:c.-191T>C, NM_001031705.2:c.-191T>C, NM_017863.2:c.-191T>C

Select item 142928479715.

rs1429284797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:135171525 (GRCh38)
X:134305449 (GRCh37)
Canonical SPDI:: NC_000023.11:135171524:G:C
Gene:: CT55 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_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.135171525G>C, NW_004070887.1:g.102669G>C, NC_000023.10:g.134305449G>C, NM_017863.2:c.-354C>G, NM_001031705.2:c.-354C>G

Select item 142305733616.

rs1423057336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:135171705 (GRCh38)
X:134305629 (GRCh37)
Canonical SPDI:: NC_000023.11:135171704:C:G
Gene:: CT55 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.135171705C>G, NW_004070887.1:g.102849C>G, NC_000023.10:g.134305629C>G, NM_017863.2:c.-534G>C, NM_001031705.2:c.-534G>C

Select item 141785767417.

rs1417857674 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:135169718 (GRCh38)
X:134303642 (GRCh37)
Canonical SPDI:: NC_000023.11:135169717:A:T
Gene:: CT55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135169718A>T, NW_004070887.1:g.100862A>T, NC_000023.10:g.134303642A>T, NM_001031705.3:c.155T>A, NM_001031705.2:c.155T>A, NM_017863.2:c.155T>A, NP_001026875.1:p.Met52Lys, NP_060333.1:p.Met52Lys

Select item 141779192618.

rs1417791926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:135171120 (GRCh38)
X:134305044 (GRCh37)
Canonical SPDI:: NC_000023.11:135171119:G:T
Gene:: CT55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.135171120G>T, NW_004070887.1:g.102264G>T, NC_000023.10:g.134305044G>T, NM_001031705.3:c.52C>A, NM_001031705.2:c.52C>A, NM_017863.2:c.52C>A, NP_001026875.1:p.Pro18Thr, NP_060333.1:p.Pro18Thr

Select item 141578374819.

rs1415783748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:135171384 (GRCh38)
X:134305308 (GRCh37)
Canonical SPDI:: NC_000023.11:135171383:C:G
Gene:: CT55 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.135171384C>G, NW_004070887.1:g.102528C>G, NC_000023.10:g.134305308C>G, NM_001031705.3:c.-213G>C, NM_001031705.2:c.-213G>C, NM_017863.2:c.-213G>C

Select item 141499762620.

rs1414997626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:135171822 (GRCh38)
X:134305746 (GRCh37)
Canonical SPDI:: NC_000023.11:135171821:A:G
Gene:: CT55 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000019/2 (GnomAD)
G=0.020833/1 (Vietnamese)
HGVS:: NC_000023.11:g.135171822A>G, NW_004070887.1:g.102966A>G, NC_000023.10:g.134305746A>G, NM_017863.2:c.-651T>C, NM_001031705.2:c.-651T>C