SNP Links for Nucleotide (Select 28144906) - SNP

Links from Nucleotide

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Select item 14910409911.

rs1491040991 has merged into rs11366223 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 3:150926489 (GRCh38)
3:150644276 (GRCh37)
Canonical SPDI:: NC_000003.12:150926478:AAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:150926478:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:150926478:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:150926478:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:150926478:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:150926478:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: CLRN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.075/3 (GENOME_DK)
A=0.15515/777 (1000Genomes)
HGVS:: NC_000003.12:g.150926489_150926490del, NC_000003.12:g.150926490del, NC_000003.12:g.150926490dup, NC_000003.12:g.150926489_150926490dup, NC_000003.12:g.150926488_150926490dup, NC_000003.12:g.150926487_150926490dup, NC_000003.11:g.150644276_150644277del, NC_000003.11:g.150644277del, NC_000003.11:g.150644277dup, NC_000003.11:g.150644276_150644277dup, NC_000003.11:g.150644275_150644277dup, NC_000003.11:g.150644274_150644277dup, NG_009168.1:g.51520_51521del, NG_009168.1:g.51521del, NG_009168.1:g.51521dup, NG_009168.1:g.51520_51521dup, NG_009168.1:g.51519_51521dup, NG_009168.1:g.51518_51521dup, NM_052995.2:c.*372_*373del, NM_052995.2:c.*373del, NM_052995.2:c.*373dup, NM_052995.2:c.*372_*373dup, NM_052995.2:c.*371_*373dup, NM_052995.2:c.*370_*373dup

Select item 14909469092.

rs1490946909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:150943895 (GRCh38)
3:150661682 (GRCh37)
Canonical SPDI:: NC_000003.12:150943894:T:A
Gene:: CLRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150943895T>A, NC_000003.11:g.150661682T>A, NG_009168.1:g.34105A>T, NM_001256819.2:c.350A>T, NM_001256819.1:c.350A>T, NM_052995.2:c.-51A>T, NM_174880.1:c.-51A>T, NP_001243748.1:p.Glu117Val

Select item 14891446563.

rs1489144656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150926360 (GRCh38)
3:150644147 (GRCh37)
Canonical SPDI:: NC_000003.12:150926359:C:T
Gene:: CLRN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.150926360C>T, NC_000003.11:g.150644147C>T, NG_009168.1:g.51640G>A, NM_052995.2:c.*492G>A

Select item 14851893444.

rs1485189344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:150926188 (GRCh38)
3:150643975 (GRCh37)
Canonical SPDI:: NC_000003.12:150926187:A:G
Gene:: CLRN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.150926188A>G, NC_000003.11:g.150643975A>G, NG_009168.1:g.51812T>C, NM_052995.2:c.*664T>C

Select item 14847918015.

rs1484791801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150941666 (GRCh38)
3:150659453 (GRCh37)
Canonical SPDI:: NC_000003.12:150941665:C:T
Gene:: CLRN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.150941666C>T, NC_000003.11:g.150659453C>T, NG_009168.1:g.36334G>A, NR_046380.3:n.519G>A, NR_046380.2:n.791G>A, NR_046380.1:n.792G>A, NM_174878.3:c.349G>A, NM_174878.2:c.349G>A, NM_001256819.2:c.521G>A, NM_001256819.1:c.521G>A, NM_052995.2:c.121G>A, NM_001195794.1:c.349G>A, NM_174879.1:c.349G>A, NM_174880.1:c.*114G>A, NP_777367.1:p.Ala117Thr, NP_001243748.1:p.Ser174Asn, NP_443721.1:p.Ala41Thr, NP_001182723.1:p.Ala117Thr

Select item 14838862556.

rs1483886255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:150943951 (GRCh38)
3:150661738 (GRCh37)
Canonical SPDI:: NC_000003.12:150943950:T:A
Gene:: CLRN1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150943951T>A, NC_000003.11:g.150661738T>A, NG_009168.1:g.34049A>T, NM_001256819.2:c.294A>T, NM_001256819.1:c.294A>T, NM_052995.2:c.-107A>T, NM_174880.1:c.-107A>T

Select item 14826752457.

rs1482675245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:150944124 (GRCh38)
3:150661911 (GRCh37)
Canonical SPDI:: NC_000003.12:150944123:T:C
Gene:: CLRN1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.150944124T>C, NC_000003.11:g.150661911T>C, NG_009168.1:g.33876A>G, NM_052995.2:c.-280A>G, NM_174880.1:c.-280A>G

Select item 14825569978.

rs1482556997 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:150926814 (GRCh38)
3:150644601 (GRCh37)
Canonical SPDI:: NC_000003.12:150926813:A:G
Gene:: CLRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_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_000003.12:g.150926814A>G, NC_000003.11:g.150644601A>G, NG_009168.1:g.51186T>C, NR_046380.3:n.2030T>C, NR_046380.2:n.2302T>C, NR_046380.1:n.2303T>C, NM_174878.3:c.*1122T>C, NM_174878.2:c.*1122T>C, NM_001256819.2:c.*1435T>C, NM_001256819.1:c.*1435T>C, NM_052995.2:c.*38T>C, NM_001195794.1:c.*1122T>C

Select item 14813662699.

rs1481366269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:150943823 (GRCh38)
3:150661610 (GRCh37)
Canonical SPDI:: NC_000003.12:150943822:G:A,NC_000003.12:150943822:G:T
Gene:: CLRN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.150943823G>A, NC_000003.12:g.150943823G>T, NC_000003.11:g.150661610G>A, NC_000003.11:g.150661610G>T, NG_009168.1:g.34177C>T, NG_009168.1:g.34177C>A, NM_001256819.2:c.422C>T, NM_001256819.2:c.422C>A, NM_001256819.1:c.422C>T, NM_001256819.1:c.422C>A, NM_052995.2:c.22C>T, NM_052995.2:c.22C>A, NM_174880.1:c.22C>T, NM_174880.1:c.22C>A, NP_001243748.1:p.Thr141Ile, NP_001243748.1:p.Thr141Asn, NP_443721.1:p.Pro8Ser, NP_443721.1:p.Pro8Thr

Select item 147881632110.

rs1478816321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:150941667 (GRCh38)
3:150659454 (GRCh37)
Canonical SPDI:: NC_000003.12:150941666:T:C
Gene:: CLRN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.150941667T>C, NC_000003.11:g.150659454T>C, NG_009168.1:g.36333A>G, NR_046380.3:n.518A>G, NR_046380.2:n.790A>G, NR_046380.1:n.791A>G, NM_174878.3:c.348A>G, NM_174878.2:c.348A>G, NM_001256819.2:c.520A>G, NM_001256819.1:c.520A>G, NM_052995.2:c.120A>G, NM_001195794.1:c.348A>G, NM_174879.1:c.348A>G, NM_174880.1:c.*113A>G, NP_001243748.1:p.Ser174Gly

Select item 147738223311.

rs1477382233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:150926674 (GRCh38)
3:150644461 (GRCh37)
Canonical SPDI:: NC_000003.12:150926673:C:A,NC_000003.12:150926673:C:T
Gene:: CLRN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.150926674C>A, NC_000003.12:g.150926674C>T, NC_000003.11:g.150644461C>A, NC_000003.11:g.150644461C>T, NG_009168.1:g.51326G>T, NG_009168.1:g.51326G>A, NR_046380.3:n.2170G>T, NR_046380.3:n.2170G>A, NR_046380.2:n.2442G>T, NR_046380.2:n.2442G>A, NR_046380.1:n.2443G>T, NR_046380.1:n.2443G>A, NM_174878.3:c.*1262G>T, NM_174878.3:c.*1262G>A, NM_174878.2:c.*1262G>T, NM_174878.2:c.*1262G>A, NM_001256819.2:c.*1575G>T, NM_001256819.2:c.*1575G>A, NM_001256819.1:c.*1575G>T, NM_001256819.1:c.*1575G>A, NM_052995.2:c.*178G>T, NM_052995.2:c.*178G>A, NM_001195794.1:c.*1262G>T, NM_001195794.1:c.*1262G>A

Select item 147559383012.

rs1475593830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:150926766 (GRCh38)
3:150644553 (GRCh37)
Canonical SPDI:: NC_000003.12:150926765:G:C
Gene:: CLRN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150926766G>C, NC_000003.11:g.150644553G>C, NG_009168.1:g.51234C>G, NR_046380.3:n.2078C>G, NR_046380.2:n.2350C>G, NR_046380.1:n.2351C>G, NM_174878.3:c.*1170C>G, NM_174878.2:c.*1170C>G, NM_001256819.2:c.*1483C>G, NM_001256819.1:c.*1483C>G, NM_052995.2:c.*86C>G, NM_001195794.1:c.*1170C>G

Select item 147558151613.

rs1475581516 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 3:150926443 (GRCh38)
3:150644230 (GRCh37)
Canonical SPDI:: NC_000003.12:150926442:C:
Gene:: CLRN1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.150926443del, NC_000003.11:g.150644230del, NG_009168.1:g.51557del, NM_052995.2:c.*409del

Select item 147142137814.

rs1471421378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:150944122 (GRCh38)
3:150661909 (GRCh37)
Canonical SPDI:: NC_000003.12:150944121:G:A,NC_000003.12:150944121:G:T
Gene:: CLRN1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00007/1 (TOMMO)
HGVS:: NC_000003.12:g.150944122G>A, NC_000003.12:g.150944122G>T, NC_000003.11:g.150661909G>A, NC_000003.11:g.150661909G>T, NG_009168.1:g.33878C>T, NG_009168.1:g.33878C>A, NM_052995.2:c.-278C>T, NM_052995.2:c.-278C>A, NM_174880.1:c.-278C>T, NM_174880.1:c.-278C>A

Select item 146914462815.

rs1469144628 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:150926559 (GRCh38)
3:150644347 (GRCh37)
Canonical SPDI:: NC_000003.12:150926559:AAAAA:AAAAAA
Gene:: CLRN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.000087/23 (TOPMED)
A=0.00017/14 (GnomAD_exomes)
A=0.000178/25 (GnomAD)
HGVS:: NC_000003.12:g.150926564dup, NC_000003.11:g.150644351dup, NG_009168.1:g.51440dup, NM_052995.2:c.*292dup

Select item 146825406916.

rs1468254069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:150941741 (GRCh38)
3:150659528 (GRCh37)
Canonical SPDI:: NC_000003.12:150941740:C:T
Gene:: CLRN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150941741C>T, NC_000003.11:g.150659528C>T, NG_009168.1:g.36259G>A, NR_046380.3:n.444G>A, NR_046380.2:n.716G>A, NR_046380.1:n.717G>A, NM_174878.3:c.274G>A, NM_174878.2:c.274G>A, NM_001256819.2:c.446G>A, NM_001256819.1:c.446G>A, NM_052995.2:c.46G>A, NM_001195794.1:c.274G>A, NM_174879.1:c.274G>A, NM_174880.1:c.*39G>A, NP_777367.1:p.Ala92Thr, NP_001243748.1:p.Ser149Asn, NP_443721.1:p.Ala16Thr, NP_001182723.1:p.Ala92Thr

Select item 146343225217.

rs1463432252 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:150941757 (GRCh38)
3:150659544 (GRCh37)
Canonical SPDI:: NC_000003.12:150941756:A:C
Gene:: CLRN1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.150941757A>C, NC_000003.11:g.150659544A>C, NG_009168.1:g.36243T>G, NR_046380.3:n.428T>G, NR_046380.2:n.700T>G, NR_046380.1:n.701T>G, NM_174878.3:c.258T>G, NM_174878.2:c.258T>G, NM_001256819.2:c.430T>G, NM_001256819.1:c.430T>G, NM_052995.2:c.30T>G, NM_001195794.1:c.258T>G, NM_174879.1:c.258T>G, NM_174880.1:c.*23T>G, NP_777367.1:p.Phe86Leu, NP_001243748.1:p.Ser144Ala, NP_443721.1:p.Phe10Leu, NP_001182723.1:p.Phe86Leu

Select item 146200529718.

rs1462005297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:150926387 (GRCh38)
3:150644174 (GRCh37)
Canonical SPDI:: NC_000003.12:150926386:G:A,NC_000003.12:150926386:G:C
Gene:: CLRN1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.150926387G>A, NC_000003.12:g.150926387G>C, NC_000003.11:g.150644174G>A, NC_000003.11:g.150644174G>C, NG_009168.1:g.51613C>T, NG_009168.1:g.51613C>G, NM_052995.2:c.*465C>T, NM_052995.2:c.*465C>G

Select item 146117440019.

rs1461174400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:150943984 (GRCh38)
3:150661771 (GRCh37)
Canonical SPDI:: NC_000003.12:150943983:A:G
Gene:: CLRN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.150943984A>G, NC_000003.11:g.150661771A>G, NG_009168.1:g.34016T>C, NM_001256819.2:c.261T>C, NM_001256819.1:c.261T>C, NM_052995.2:c.-140T>C, NM_174880.1:c.-140T>C

Select item 145874450120.

rs1458744501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:150943846 (GRCh38)
3:150661633 (GRCh37)
Canonical SPDI:: NC_000003.12:150943845:G:A,NC_000003.12:150943845:G:T
Gene:: CLRN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_variant
HGVS:: NC_000003.12:g.150943846G>A, NC_000003.12:g.150943846G>T, NC_000003.11:g.150661633G>A, NC_000003.11:g.150661633G>T, NG_009168.1:g.34154C>T, NG_009168.1:g.34154C>A, NM_001256819.2:c.399C>T, NM_001256819.2:c.399C>A, NM_001256819.1:c.399C>T, NM_001256819.1:c.399C>A, NM_052995.2:c.-2C>T, NM_052995.2:c.-2C>A, NM_174880.1:c.-2C>T, NM_174880.1:c.-2C>A

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