SNP Links for Nucleotide (Select 325053743) - SNP

Links from Nucleotide

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Select item 14915520981.

rs1491552098 has merged into rs34741031 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:54456145 (GRCh38)
8:55368705 (GRCh37)
Canonical SPDI:: NC_000008.11:54456137:TTTTTTTTT:TTTTTTT,NC_000008.11:54456137:TTTTTTTTT:TTTTTTTT,NC_000008.11:54456137:TTTTTTTTT:TTTTTTTTTT,NC_000008.11:54456137:TTTTTTTTT:TTTTTTTTTTT,NC_000008.11:54456137:TTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:54456137:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SOX17 (Varview), LOC105375841 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.17044/632 (TWINSUK)
T=0.18007/694 (ALSPAC)
T=0.20201/905 (Estonian)
T=0.205/123 (NorthernSweden)
T=0.21925/1098 (1000Genomes)
T=0.3/12 (GENOME_DK)
HGVS:: NC_000008.11:g.54456145_54456146del, NC_000008.11:g.54456146del, NC_000008.11:g.54456146dup, NC_000008.11:g.54456145_54456146dup, NC_000008.11:g.54456144_54456146dup, NC_000008.11:g.54456146_54456147insTTTTTTTTTTTTTTT, NC_000008.10:g.55368705_55368706del, NC_000008.10:g.55368706del, NC_000008.10:g.55368706dup, NC_000008.10:g.55368705_55368706dup, NC_000008.10:g.55368704_55368706dup, NC_000008.10:g.55368706_55368707insTTTTTTTTTTTTTTT, NG_028171.1:g.3211_3212del, NG_028171.1:g.3212del, NG_028171.1:g.3212dup, NG_028171.1:g.3211_3212dup, NG_028171.1:g.3210_3212dup, NG_028171.1:g.3212_3213insTTTTTTTTTTTTTTT

Select item 14914377662.

rs1491437766 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:54456005 (GRCh38)
8:55368565 (GRCh37)
Canonical SPDI:: NC_000008.11:54456004:CA:
Gene:: SOX17 (Varview), LOC105375841 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00219/26 (ALFA)
-=0.00032/9 (TOMMO)
HGVS:: NC_000008.11:g.54456005_54456006del, NC_000008.10:g.55368565_55368566del, NG_028171.1:g.3071_3072del

Select item 14912482253.

rs1491248225 has merged into rs34741031 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:54456145 (GRCh38)
8:55368705 (GRCh37)
Canonical SPDI:: NC_000008.11:54456137:TTTTTTTTT:TTTTTTT,NC_000008.11:54456137:TTTTTTTTT:TTTTTTTT,NC_000008.11:54456137:TTTTTTTTT:TTTTTTTTTT,NC_000008.11:54456137:TTTTTTTTT:TTTTTTTTTTT,NC_000008.11:54456137:TTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:54456137:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SOX17 (Varview), LOC105375841 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.17044/632 (TWINSUK)
T=0.18007/694 (ALSPAC)
T=0.20201/905 (Estonian)
T=0.205/123 (NorthernSweden)
T=0.21925/1098 (1000Genomes)
T=0.3/12 (GENOME_DK)
HGVS:: NC_000008.11:g.54456145_54456146del, NC_000008.11:g.54456146del, NC_000008.11:g.54456146dup, NC_000008.11:g.54456145_54456146dup, NC_000008.11:g.54456144_54456146dup, NC_000008.11:g.54456146_54456147insTTTTTTTTTTTTTTT, NC_000008.10:g.55368705_55368706del, NC_000008.10:g.55368706del, NC_000008.10:g.55368706dup, NC_000008.10:g.55368705_55368706dup, NC_000008.10:g.55368704_55368706dup, NC_000008.10:g.55368706_55368707insTTTTTTTTTTTTTTT, NG_028171.1:g.3211_3212del, NG_028171.1:g.3212del, NG_028171.1:g.3212dup, NG_028171.1:g.3211_3212dup, NG_028171.1:g.3210_3212dup, NG_028171.1:g.3212_3213insTTTTTTTTTTTTTTT

Select item 14910864954.

rs1491086495 has merged into rs555150714 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 8:54460929 (GRCh38)
8:55373489 (GRCh37)
Canonical SPDI:: NC_000008.11:54460918:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:54460918:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:54460918:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:54460918:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:54460918:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:54460918:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:54460918:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:54460918:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: SOX17 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.075/3 (GENOME_DK)
HGVS:: NC_000008.11:g.54460929_54460932del, NC_000008.11:g.54460930_54460932del, NC_000008.11:g.54460931_54460932del, NC_000008.11:g.54460932del, NC_000008.11:g.54460932dup, NC_000008.11:g.54460931_54460932dup, NC_000008.11:g.54460930_54460932dup, NC_000008.11:g.54460929_54460932dup, NC_000008.10:g.55373489_55373492del, NC_000008.10:g.55373490_55373492del, NC_000008.10:g.55373491_55373492del, NC_000008.10:g.55373492del, NC_000008.10:g.55373492dup, NC_000008.10:g.55373491_55373492dup, NC_000008.10:g.55373490_55373492dup, NC_000008.10:g.55373489_55373492dup, NG_028171.1:g.7995_7998del, NG_028171.1:g.7996_7998del, NG_028171.1:g.7997_7998del, NG_028171.1:g.7998del, NG_028171.1:g.7998dup, NG_028171.1:g.7997_7998dup, NG_028171.1:g.7996_7998dup, NG_028171.1:g.7995_7998dup

Select item 14910332905.

rs1491033290 has merged into rs10637783 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:54456966 (GRCh38)
8:55369526 (GRCh37)
Canonical SPDI:: NC_000008.11:54456956:TTTTTTTTTTT:TTTTTTTTT,NC_000008.11:54456956:TTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:54456956:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:54456956:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:54456956:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: SOX17 (Varview), LOC105375841 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.3666/1389 (1000Genomes)
HGVS:: NC_000008.11:g.54456966_54456967del, NC_000008.11:g.54456967del, NC_000008.11:g.54456967dup, NC_000008.11:g.54456966_54456967dup, NC_000008.11:g.54456967_54456968insTTTTTTTTTTTT, NC_000008.10:g.55369526_55369527del, NC_000008.10:g.55369527del, NC_000008.10:g.55369527dup, NC_000008.10:g.55369526_55369527dup, NC_000008.10:g.55369527_55369528insTTTTTTTTTTTT, NG_028171.1:g.4032_4033del, NG_028171.1:g.4033del, NG_028171.1:g.4033dup, NG_028171.1:g.4032_4033dup, NG_028171.1:g.4033_4034insTTTTTTTTTTTT

Select item 14905296326.

rs1490529632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:54460959 (GRCh38)
8:55373519 (GRCh37)
Canonical SPDI:: NC_000008.11:54460958:C:T
Gene:: SOX17 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.54460959C>T, NC_000008.10:g.55373519C>T, NG_028171.1:g.8025C>T

Select item 14904548697.

rs1490454869 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:54459358 (GRCh38)
8:55371918 (GRCh37)
Canonical SPDI:: NC_000008.11:54459357:A:G
Gene:: SOX17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.54459358A>G, NC_000008.10:g.55371918A>G, NG_028171.1:g.6424A>G, NM_022454.4:c.608A>G, NM_022454.3:c.608A>G, NP_071899.1:p.Tyr203Cys

Select item 14904495498.

rs1490449549 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:54460082 (GRCh38)
8:55372642 (GRCh37)
Canonical SPDI:: NC_000008.11:54460081:TTTTT:TTTT
Gene:: SOX17 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.54460086del, NC_000008.10:g.55372646del, NG_028171.1:g.7152del, NM_022454.4:c.*91del, NM_022454.3:c.*91del

Select item 14901936839.

rs1490193683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:54454361 (GRCh38)
8:55366921 (GRCh37)
Canonical SPDI:: NC_000008.11:54454360:C:T
Gene:: LOC105375841 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.54454361C>T, NC_000008.10:g.55366921C>T, NG_028171.1:g.1427C>T

Select item 149000507510.

rs1490005075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:54458261 (GRCh38)
8:55370821 (GRCh37)
Canonical SPDI:: NC_000008.11:54458260:C:T
Gene:: SOX17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.54458261C>T, NC_000008.10:g.55370821C>T, NG_028171.1:g.5327C>T, NM_022454.4:c.123C>T, NM_022454.3:c.123C>T

Select item 148997393311.

rs1489973933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:54459322 (GRCh38)
8:55371882 (GRCh37)
Canonical SPDI:: NC_000008.11:54459321:G:T
Gene:: SOX17 (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)
HGVS:: NC_000008.11:g.54459322G>T, NC_000008.10:g.55371882G>T, NG_028171.1:g.6388G>T, NM_022454.4:c.572G>T, NM_022454.3:c.572G>T, NP_071899.1:p.Gly191Val

Select item 148933899012.

rs1489338990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:54456746 (GRCh38)
8:55369306 (GRCh37)
Canonical SPDI:: NC_000008.11:54456745:G:A,NC_000008.11:54456745:G:T
Gene:: SOX17 (Varview), LOC105375841 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.54456746G>A, NC_000008.11:g.54456746G>T, NC_000008.10:g.55369306G>A, NC_000008.10:g.55369306G>T, NG_028171.1:g.3812G>A, NG_028171.1:g.3812G>T

Select item 148930859913.

rs1489308599 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:54458921 (GRCh38)
8:55371481 (GRCh37)
Canonical SPDI:: NC_000008.11:54458920:C:T
Gene:: SOX17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.54458921C>T, NC_000008.10:g.55371481C>T, NG_028171.1:g.5987C>T

Select item 148921487814.

rs1489214878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:54458122 (GRCh38)
8:55370682 (GRCh37)
Canonical SPDI:: NC_000008.11:54458121:G:A
Gene:: SOX17 (Varview)
Functional Consequence:: 5_prime_UTR_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_000008.11:g.54458122G>A, NC_000008.10:g.55370682G>A, NG_028171.1:g.5188G>A, NM_022454.4:c.-17G>A, NM_022454.3:c.-17G>A

Select item 148901164115.

rs1489011641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:54454757 (GRCh38)
8:55367317 (GRCh37)
Canonical SPDI:: NC_000008.11:54454756:G:C
Gene:: LOC105375841 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_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.54454757G>C, NC_000008.10:g.55367317G>C, NG_028171.1:g.1823G>C, XR_928899.2:n.228C>G, XR_928899.1:n.82C>G

Select item 148893092616.

rs1488930926 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 8:54454435 (GRCh38)
8:55366995 (GRCh37)
Canonical SPDI:: NC_000008.11:54454434:A:C,NC_000008.11:54454434:A:T
Gene:: LOC105375841 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.54454435A>C, NC_000008.11:g.54454435A>T, NC_000008.10:g.55366995A>C, NC_000008.10:g.55366995A>T, NG_028171.1:g.1501A>C, NG_028171.1:g.1501A>T

Select item 148893080017.

rs1488930800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:54461422 (GRCh38)
8:55373982 (GRCh37)
Canonical SPDI:: NC_000008.11:54461421:C:A,NC_000008.11:54461421:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.54461422C>A, NC_000008.11:g.54461422C>T, NC_000008.10:g.55373982C>A, NC_000008.10:g.55373982C>T, NG_028171.1:g.8488C>A, NG_028171.1:g.8488C>T

Select item 148892876918.

rs1488928769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:54455457 (GRCh38)
8:55368017 (GRCh37)
Canonical SPDI:: NC_000008.11:54455456:A:C
Gene:: LOC105375841 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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.54455457A>C, NC_000008.10:g.55368017A>C, NG_028171.1:g.2523A>C

Select item 148867627419.

rs1488676274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:54462528 (GRCh38)
8:55375088 (GRCh37)
Canonical SPDI:: NC_000008.11:54462527:C:G
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.54462528C>G, NC_000008.10:g.55375088C>G, NG_028171.1:g.9594C>G

Select item 148861461420.

rs1488614614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:54459599 (GRCh38)
8:55372159 (GRCh37)
Canonical SPDI:: NC_000008.11:54459598:T:A
Gene:: SOX17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.54459599T>A, NC_000008.10:g.55372159T>A, NG_028171.1:g.6665T>A, NM_022454.4:c.849T>A, NM_022454.3:c.849T>A

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