SNP Links for Nucleotide (Select 19882258) - SNP

Links from Nucleotide

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Select item 14869821061.

rs1486982106 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAA>- [Show Flanks]
Chromosome:: 20:23440426 (GRCh38)
20:23421063 (GRCh37)
Canonical SPDI:: NC_000020.11:23440421:ACAACAA:ACAA
Gene:: CSTL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: ACAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.23440423CAA[1], NC_000020.10:g.23421060CAA[1], NR_170941.1:n.417CAA[1], NR_170940.1:n.417CAA[1], XM_047439889.1:c.156CAA[1], NR_170938.1:n.417CAA[1], NR_170937.1:n.417CAA[1], NM_138283.1:c.156CAA[1], XP_047295845.1:p.Asn54del, NP_612140.1:p.Asn54del

Select item 14860759712.

rs1486075971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:23440482 (GRCh38)
20:23421119 (GRCh37)
Canonical SPDI:: NC_000020.11:23440481:T:A
Gene:: CSTL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23440482T>A, NC_000020.10:g.23421119T>A, NR_170941.1:n.476T>A, NR_170940.1:n.476T>A, XM_047439889.1:c.215T>A, NR_170938.1:n.476T>A, NR_170937.1:n.476T>A, NM_138283.1:c.215T>A, XP_047295845.1:p.Met72Lys, NP_612140.1:p.Met72Lys

Select item 14794835243.

rs1479483524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:23440359 (GRCh38)
20:23420996 (GRCh37)
Canonical SPDI:: NC_000020.11:23440358:T:G
Gene:: CSTL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_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_000020.11:g.23440359T>G, NC_000020.10:g.23420996T>G, NR_170941.1:n.353T>G, NR_170940.1:n.353T>G, XM_047439889.1:c.92T>G, NR_170938.1:n.353T>G, NR_170937.1:n.353T>G, NM_138283.1:c.92T>G, XP_047295845.1:p.Phe31Cys, NP_612140.1:p.Phe31Cys

Select item 14759188094.

rs1475918809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23439703 (GRCh38)
20:23420340 (GRCh37)
Canonical SPDI:: NC_000020.11:23439702:G:A
Gene:: CSTL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.23439703G>A, NC_000020.10:g.23420340G>A, NR_170941.1:n.34G>A, NR_170940.1:n.34G>A, XM_047439889.1:c.-228G>A, NR_170939.1:n.34G>A, NR_170938.1:n.34G>A, NR_170937.1:n.34G>A, NM_138283.1:c.-228G>A

Select item 14739887995.

rs1473988799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23443969 (GRCh38)
20:23424606 (GRCh37)
Canonical SPDI:: NC_000020.11:23443968:G:A
Gene:: CSTL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23443969G>A, NC_000020.10:g.23424606G>A, NR_170941.1:n.639G>A, NR_170940.1:n.564G>A, XM_047439889.1:c.255G>A, NR_170939.1:n.296G>A, NR_170938.1:n.639G>A, NR_170937.1:n.564G>A, NM_138283.1:c.255G>A

Select item 14731117126.

rs1473111712 [Homo sapiens]

Variant type:: DEL
Alleles:: AAC>- [Show Flanks]
Chromosome:: 20:23440201 (GRCh38)
20:23420838 (GRCh37)
Canonical SPDI:: NC_000020.11:23440200:AAC:
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.23440201_23440203del, NC_000020.10:g.23420838_23420840del, NR_170941.1:n.195_197del, NR_170940.1:n.195_197del, XM_047439889.1:c.-67_-65del, NR_170938.1:n.195_197del, NR_170937.1:n.195_197del, NM_138283.1:c.-67_-65del

Select item 14725601557.

rs1472560155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:23444907 (GRCh38)
20:23425544 (GRCh37)
Canonical SPDI:: NC_000020.11:23444906:C:A,NC_000020.11:23444906:C:T
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.23444907C>A, NC_000020.11:g.23444907C>T, NC_000020.10:g.23425544C>A, NC_000020.10:g.23425544C>T, NR_170938.1:n.851C>A, NR_170938.1:n.851C>T, NR_170937.1:n.776C>A, NR_170937.1:n.776C>T, NM_138283.1:c.*29C>A, NM_138283.1:c.*29C>T

Select item 14687049818.

rs1468704981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:23444822 (GRCh38)
20:23425459 (GRCh37)
Canonical SPDI:: NC_000020.11:23444821:C:T
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23444822C>T, NC_000020.10:g.23425459C>T, NR_170938.1:n.766C>T, NR_170937.1:n.691C>T, NM_138283.1:c.382C>T, NP_612140.1:p.Gln128Ter

Select item 14658501709.

rs1465850170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23439686 (GRCh38)
20:23420323 (GRCh37)
Canonical SPDI:: NC_000020.11:23439685:G:A
Gene:: CSTL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.23439686G>A, NC_000020.10:g.23420323G>A, NR_170941.1:n.17G>A, NR_170940.1:n.17G>A, XM_047439889.1:c.-245G>A, NR_170939.1:n.17G>A, NR_170938.1:n.17G>A, NR_170937.1:n.17G>A, NM_138283.1:c.-245G>A

Select item 146046192510.

rs1460461925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:23440173 (GRCh38)
20:23420810 (GRCh37)
Canonical SPDI:: NC_000020.11:23440172:G:T
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.23440173G>T, NC_000020.10:g.23420810G>T, NR_170941.1:n.167G>T, NR_170940.1:n.167G>T, XM_047439889.1:c.-95G>T, NR_170938.1:n.167G>T, NR_170937.1:n.167G>T, NM_138283.1:c.-95G>T

Select item 145633442111.

rs1456334421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:23440336 (GRCh38)
20:23420973 (GRCh37)
Canonical SPDI:: NC_000020.11:23440335:T:A
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23440336T>A, NC_000020.10:g.23420973T>A, NR_170941.1:n.330T>A, NR_170940.1:n.330T>A, XM_047439889.1:c.69T>A, NR_170938.1:n.330T>A, NR_170937.1:n.330T>A, NM_138283.1:c.69T>A

Select item 145094186612.

rs1450941866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23440192 (GRCh38)
20:23420829 (GRCh37)
Canonical SPDI:: NC_000020.11:23440191:G:A
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.23440192G>A, NC_000020.10:g.23420829G>A, NR_170941.1:n.186G>A, NR_170940.1:n.186G>A, XM_047439889.1:c.-76G>A, NR_170938.1:n.186G>A, NR_170937.1:n.186G>A, NM_138283.1:c.-76G>A

Select item 144965198913.

rs1449651989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:23440292 (GRCh38)
20:23420929 (GRCh37)
Canonical SPDI:: NC_000020.11:23440291:C:A,NC_000020.11:23440291:C:G
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.23440292C>A, NC_000020.11:g.23440292C>G, NC_000020.10:g.23420929C>A, NC_000020.10:g.23420929C>G, NR_170941.1:n.286C>A, NR_170941.1:n.286C>G, NR_170940.1:n.286C>A, NR_170940.1:n.286C>G, XM_047439889.1:c.25C>A, XM_047439889.1:c.25C>G, NR_170938.1:n.286C>A, NR_170938.1:n.286C>G, NR_170937.1:n.286C>A, NR_170937.1:n.286C>G, NM_138283.1:c.25C>A, NM_138283.1:c.25C>G, XP_047295845.1:p.Pro9Thr, XP_047295845.1:p.Pro9Ala, NP_612140.1:p.Pro9Thr, NP_612140.1:p.Pro9Ala

Select item 144714626714.

rs1447146267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23440246 (GRCh38)
20:23420883 (GRCh37)
Canonical SPDI:: NC_000020.11:23440245:G:A
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.23440246G>A, NC_000020.10:g.23420883G>A, NR_170941.1:n.240G>A, NR_170940.1:n.240G>A, XM_047439889.1:c.-22G>A, NR_170938.1:n.240G>A, NR_170937.1:n.240G>A, NM_138283.1:c.-22G>A

Select item 144578802815.

rs1445788028 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23440185 (GRCh38)
20:23420822 (GRCh37)
Canonical SPDI:: NC_000020.11:23440184:G:A
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,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_000020.11:g.23440185G>A, NC_000020.10:g.23420822G>A, NR_170941.1:n.179G>A, NR_170940.1:n.179G>A, XM_047439889.1:c.-83G>A, NR_170938.1:n.179G>A, NR_170937.1:n.179G>A, NM_138283.1:c.-83G>A

Select item 144216062016.

rs1442160620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:23440285 (GRCh38)
20:23420922 (GRCh37)
Canonical SPDI:: NC_000020.11:23440284:G:A
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23440285G>A, NC_000020.10:g.23420922G>A, NR_170941.1:n.279G>A, NR_170940.1:n.279G>A, XM_047439889.1:c.18G>A, NR_170938.1:n.279G>A, NR_170937.1:n.279G>A, NM_138283.1:c.18G>A, XP_047295845.1:p.Trp6Ter, NP_612140.1:p.Trp6Ter

Select item 144179091317.

rs1441790913 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:23440427 (GRCh38)
20:23421064 (GRCh37)
Canonical SPDI:: NC_000020.11:23440426:A:G
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.23440427A>G, NC_000020.10:g.23421064A>G, NR_170941.1:n.421A>G, NR_170940.1:n.421A>G, XM_047439889.1:c.160A>G, NR_170938.1:n.421A>G, NR_170937.1:n.421A>G, NM_138283.1:c.160A>G, XP_047295845.1:p.Asn54Asp, NP_612140.1:p.Asn54Asp

Select item 144129844118.

rs1441298441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:23440323 (GRCh38)
20:23420960 (GRCh37)
Canonical SPDI:: NC_000020.11:23440322:C:T
Gene:: CSTL1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.23440323C>T, NC_000020.10:g.23420960C>T, NR_170941.1:n.317C>T, NR_170940.1:n.317C>T, XM_047439889.1:c.56C>T, NR_170938.1:n.317C>T, NR_170937.1:n.317C>T, NM_138283.1:c.56C>T, XP_047295845.1:p.Ser19Leu, NP_612140.1:p.Ser19Leu

Select item 143671474619.

rs1436714746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:23444041 (GRCh38)
20:23424678 (GRCh37)
Canonical SPDI:: NC_000020.11:23444040:A:G
Gene:: CSTL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23444041A>G, NC_000020.10:g.23424678A>G, NR_170941.1:n.711A>G, NR_170940.1:n.636A>G, XM_047439889.1:c.327A>G, NR_170939.1:n.368A>G, NR_170938.1:n.711A>G, NR_170937.1:n.636A>G, NM_138283.1:c.327A>G

Select item 143606700720.

rs1436067007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:23440217 (GRCh38)
20:23420854 (GRCh37)
Canonical SPDI:: NC_000020.11:23440216:C:A
Gene:: CSTL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.23440217C>A, NC_000020.10:g.23420854C>A, NR_170941.1:n.211C>A, NR_170940.1:n.211C>A, XM_047439889.1:c.-51C>A, NR_170938.1:n.211C>A, NR_170937.1:n.211C>A, NM_138283.1:c.-51C>A

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