SNP Links for Nucleotide (Select 557786109) - SNP

Select item 14903022671.

rs1490302267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:34517929 (GRCh38)
21:35890227 (GRCh37)
Canonical SPDI:: NC_000021.9:34517928:G:A,NC_000021.9:34517928:G:T
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.34517929G>A, NC_000021.9:g.34517929G>T, NC_000021.8:g.35890227G>A, NC_000021.8:g.35890227G>T, NG_007071.2:g.102184C>T, NG_007071.2:g.102184C>A, NG_007071.1:g.102156C>T, NG_007071.1:g.102156C>A, NM_004414.7:c.*155C>T, NM_004414.7:c.*155C>A, NM_004414.6:c.*155C>T, NM_004414.6:c.*155C>A, NM_004414.5:c.*155C>T, NM_004414.5:c.*155C>A, NM_203418.3:c.*155C>T, NM_203418.3:c.*155C>A, NM_203418.2:c.*155C>T, NM_203418.2:c.*155C>A, NM_203418.1:c.*155C>T, NM_203418.1:c.*155C>A, NM_001285391.2:c.*155C>T, NM_001285391.2:c.*155C>A, NM_001285391.1:c.*155C>T, NM_001285391.1:c.*155C>A, NM_001285392.2:c.*155C>T, NM_001285392.2:c.*155C>A, NM_001285392.1:c.*155C>T, NM_001285392.1:c.*155C>A, NM_203417.2:c.*155C>T, NM_203417.2:c.*155C>A, NM_203417.1:c.*155C>T, NM_203417.1:c.*155C>A, NM_001285393.2:c.*155C>T, NM_001285393.2:c.*155C>A, NM_001285393.1:c.*155C>T, NM_001285393.1:c.*155C>A, NM_001285389.2:c.*155C>T, NM_001285389.2:c.*155C>A, NM_001285389.1:c.*155C>T, NM_001285389.1:c.*155C>A

Select item 14902763872.

rs1490276387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:34516650 (GRCh38)
21:35888948 (GRCh37)
Canonical SPDI:: NC_000021.9:34516649:T:C
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000021.9:g.34516650T>C, NC_000021.8:g.35888948T>C, NG_007071.2:g.103463A>G, NG_007071.1:g.103435A>G, NM_004414.7:c.*1434A>G, NM_004414.6:c.*1434A>G, NM_004414.5:c.*1434A>G, NM_203418.3:c.*1434A>G, NM_203418.2:c.*1434A>G, NM_203418.1:c.*1434A>G, NM_001285391.2:c.*1434A>G, NM_001285391.1:c.*1434A>G, NM_001285392.2:c.*1434A>G, NM_001285392.1:c.*1434A>G, NM_203417.2:c.*1434A>G, NM_203417.1:c.*1434A>G, NM_001285393.2:c.*1434A>G, NM_001285393.1:c.*1434A>G, NM_001285389.2:c.*1434A>G, NM_001285389.1:c.*1434A>G

Select item 14893123793.

rs1489312379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 21:34517373 (GRCh38)
21:35889671 (GRCh37)
Canonical SPDI:: NC_000021.9:34517372:T:C,NC_000021.9:34517372:T:G
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.34517373T>C, NC_000021.9:g.34517373T>G, NC_000021.8:g.35889671T>C, NC_000021.8:g.35889671T>G, NG_007071.2:g.102740A>G, NG_007071.2:g.102740A>C, NG_007071.1:g.102712A>G, NG_007071.1:g.102712A>C, NM_004414.7:c.*711A>G, NM_004414.7:c.*711A>C, NM_004414.6:c.*711A>G, NM_004414.6:c.*711A>C, NM_004414.5:c.*711A>G, NM_004414.5:c.*711A>C, NM_203418.3:c.*711A>G, NM_203418.3:c.*711A>C, NM_203418.2:c.*711A>G, NM_203418.2:c.*711A>C, NM_203418.1:c.*711A>G, NM_203418.1:c.*711A>C, NM_001285391.2:c.*711A>G, NM_001285391.2:c.*711A>C, NM_001285391.1:c.*711A>G, NM_001285391.1:c.*711A>C, NM_001285392.2:c.*711A>G, NM_001285392.2:c.*711A>C, NM_001285392.1:c.*711A>G, NM_001285392.1:c.*711A>C, NM_203417.2:c.*711A>G, NM_203417.2:c.*711A>C, NM_203417.1:c.*711A>G, NM_203417.1:c.*711A>C, NM_001285393.2:c.*711A>G, NM_001285393.2:c.*711A>C, NM_001285393.1:c.*711A>G, NM_001285393.1:c.*711A>C, NM_001285389.2:c.*711A>G, NM_001285389.2:c.*711A>C, NM_001285389.1:c.*711A>G, NM_001285389.1:c.*711A>C

Select item 14875616004.

rs1487561600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:34516505 (GRCh38)
21:35888803 (GRCh37)
Canonical SPDI:: NC_000021.9:34516504:T:C
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.34516505T>C, NC_000021.8:g.35888803T>C, NG_007071.2:g.103608A>G, NG_007071.1:g.103580A>G, NM_004414.7:c.*1579A>G, NM_004414.6:c.*1579A>G, NM_004414.5:c.*1579A>G, NM_203418.3:c.*1579A>G, NM_203418.2:c.*1579A>G, NM_203418.1:c.*1579A>G, NM_001285391.2:c.*1579A>G, NM_001285391.1:c.*1579A>G, NM_001285392.2:c.*1579A>G, NM_001285392.1:c.*1579A>G, NM_203417.2:c.*1579A>G, NM_203417.1:c.*1579A>G, NM_001285393.2:c.*1579A>G, NM_001285393.1:c.*1579A>G, NM_001285389.2:c.*1579A>G, NM_001285389.1:c.*1579A>G

Select item 14848522315.

rs1484852231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:34517203 (GRCh38)
21:35889501 (GRCh37)
Canonical SPDI:: NC_000021.9:34517202:C:G
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_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_000021.9:g.34517203C>G, NC_000021.8:g.35889501C>G, NG_007071.2:g.102910G>C, NG_007071.1:g.102882G>C, NM_004414.7:c.*881G>C, NM_004414.6:c.*881G>C, NM_004414.5:c.*881G>C, NM_203418.3:c.*881G>C, NM_203418.2:c.*881G>C, NM_203418.1:c.*881G>C, NM_001285391.2:c.*881G>C, NM_001285391.1:c.*881G>C, NM_001285392.2:c.*881G>C, NM_001285392.1:c.*881G>C, NM_203417.2:c.*881G>C, NM_203417.1:c.*881G>C, NM_001285393.2:c.*881G>C, NM_001285393.1:c.*881G>C, NM_001285389.2:c.*881G>C, NM_001285389.1:c.*881G>C

Select item 14823077146.

rs1482307714 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:34516794 (GRCh38)
21:35889092 (GRCh37)
Canonical SPDI:: NC_000021.9:34516793:T:G
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.34516794T>G, NC_000021.8:g.35889092T>G, NG_007071.2:g.103319A>C, NG_007071.1:g.103291A>C, NM_004414.7:c.*1290A>C, NM_004414.6:c.*1290A>C, NM_004414.5:c.*1290A>C, NM_203418.3:c.*1290A>C, NM_203418.2:c.*1290A>C, NM_203418.1:c.*1290A>C, NM_001285391.2:c.*1290A>C, NM_001285391.1:c.*1290A>C, NM_001285392.2:c.*1290A>C, NM_001285392.1:c.*1290A>C, NM_203417.2:c.*1290A>C, NM_203417.1:c.*1290A>C, NM_001285393.2:c.*1290A>C, NM_001285393.1:c.*1290A>C, NM_001285389.2:c.*1290A>C, NM_001285389.1:c.*1290A>C

Select item 14822588097.

rs1482258809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:34517443 (GRCh38)
21:35889741 (GRCh37)
Canonical SPDI:: NC_000021.9:34517442:C:T
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000021.9:g.34517443C>T, NC_000021.8:g.35889741C>T, NG_007071.2:g.102670G>A, NG_007071.1:g.102642G>A, NM_004414.7:c.*641G>A, NM_004414.6:c.*641G>A, NM_004414.5:c.*641G>A, NM_203418.3:c.*641G>A, NM_203418.2:c.*641G>A, NM_203418.1:c.*641G>A, NM_001285391.2:c.*641G>A, NM_001285391.1:c.*641G>A, NM_001285392.2:c.*641G>A, NM_001285392.1:c.*641G>A, NM_203417.2:c.*641G>A, NM_203417.1:c.*641G>A, NM_001285393.2:c.*641G>A, NM_001285393.1:c.*641G>A, NM_001285389.2:c.*641G>A, NM_001285389.1:c.*641G>A

Select item 14804005928.

rs1480400592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 21:34516787 (GRCh38)
21:35889085 (GRCh37)
Canonical SPDI:: NC_000021.9:34516786:C:A,NC_000021.9:34516786:C:G
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.34516787C>A, NC_000021.9:g.34516787C>G, NC_000021.8:g.35889085C>A, NC_000021.8:g.35889085C>G, NG_007071.2:g.103326G>T, NG_007071.2:g.103326G>C, NG_007071.1:g.103298G>T, NG_007071.1:g.103298G>C, NM_004414.7:c.*1297G>T, NM_004414.7:c.*1297G>C, NM_004414.6:c.*1297G>T, NM_004414.6:c.*1297G>C, NM_004414.5:c.*1297G>T, NM_004414.5:c.*1297G>C, NM_203418.3:c.*1297G>T, NM_203418.3:c.*1297G>C, NM_203418.2:c.*1297G>T, NM_203418.2:c.*1297G>C, NM_203418.1:c.*1297G>T, NM_203418.1:c.*1297G>C, NM_001285391.2:c.*1297G>T, NM_001285391.2:c.*1297G>C, NM_001285391.1:c.*1297G>T, NM_001285391.1:c.*1297G>C, NM_001285392.2:c.*1297G>T, NM_001285392.2:c.*1297G>C, NM_001285392.1:c.*1297G>T, NM_001285392.1:c.*1297G>C, NM_203417.2:c.*1297G>T, NM_203417.2:c.*1297G>C, NM_203417.1:c.*1297G>T, NM_203417.1:c.*1297G>C, NM_001285393.2:c.*1297G>T, NM_001285393.2:c.*1297G>C, NM_001285393.1:c.*1297G>T, NM_001285393.1:c.*1297G>C, NM_001285389.2:c.*1297G>T, NM_001285389.2:c.*1297G>C, NM_001285389.1:c.*1297G>T, NM_001285389.1:c.*1297G>C

Select item 14786455489.

rs1478645548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:34517901 (GRCh38)
21:35890199 (GRCh37)
Canonical SPDI:: NC_000021.9:34517900:T:C
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.34517901T>C, NC_000021.8:g.35890199T>C, NG_007071.2:g.102212A>G, NG_007071.1:g.102184A>G, NM_004414.7:c.*183A>G, NM_004414.6:c.*183A>G, NM_004414.5:c.*183A>G, NM_203418.3:c.*183A>G, NM_203418.2:c.*183A>G, NM_203418.1:c.*183A>G, NM_001285391.2:c.*183A>G, NM_001285391.1:c.*183A>G, NM_001285392.2:c.*183A>G, NM_001285392.1:c.*183A>G, NM_203417.2:c.*183A>G, NM_203417.1:c.*183A>G, NM_001285393.2:c.*183A>G, NM_001285393.1:c.*183A>G, NM_001285389.2:c.*183A>G, NM_001285389.1:c.*183A>G

Select item 147817253710.

rs1478172537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:34517793 (GRCh38)
21:35890091 (GRCh37)
Canonical SPDI:: NC_000021.9:34517792:G:T
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.34517793G>T, NC_000021.8:g.35890091G>T, NG_007071.2:g.102320C>A, NG_007071.1:g.102292C>A, NM_004414.7:c.*291C>A, NM_004414.6:c.*291C>A, NM_004414.5:c.*291C>A, NM_203418.3:c.*291C>A, NM_203418.2:c.*291C>A, NM_203418.1:c.*291C>A, NM_001285391.2:c.*291C>A, NM_001285391.1:c.*291C>A, NM_001285392.2:c.*291C>A, NM_001285392.1:c.*291C>A, NM_203417.2:c.*291C>A, NM_203417.1:c.*291C>A, NM_001285393.2:c.*291C>A, NM_001285393.1:c.*291C>A, NM_001285389.2:c.*291C>A, NM_001285389.1:c.*291C>A

Select item 147810071611.

rs1478100716 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 21:34516646 (GRCh38)
21:35888944 (GRCh37)
Canonical SPDI:: NC_000021.9:34516645:GGG:GG
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.34516648del, NC_000021.8:g.35888946del, NG_007071.2:g.103467del, NG_007071.1:g.103439del, NM_004414.7:c.*1438del, NM_004414.6:c.*1438del, NM_004414.5:c.*1438del, NM_203418.3:c.*1438del, NM_203418.2:c.*1438del, NM_203418.1:c.*1438del, NM_001285391.2:c.*1438del, NM_001285391.1:c.*1438del, NM_001285392.2:c.*1438del, NM_001285392.1:c.*1438del, NM_203417.2:c.*1438del, NM_203417.1:c.*1438del, NM_001285393.2:c.*1438del, NM_001285393.1:c.*1438del, NM_001285389.2:c.*1438del, NM_001285389.1:c.*1438del

Select item 147802171412.

rs1478021714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:34516574 (GRCh38)
21:35888872 (GRCh37)
Canonical SPDI:: NC_000021.9:34516573:A:T
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000021.9:g.34516574A>T, NC_000021.8:g.35888872A>T, NG_007071.2:g.103539T>A, NG_007071.1:g.103511T>A, NM_004414.7:c.*1510T>A, NM_004414.6:c.*1510T>A, NM_004414.5:c.*1510T>A, NM_203418.3:c.*1510T>A, NM_203418.2:c.*1510T>A, NM_203418.1:c.*1510T>A, NM_001285391.2:c.*1510T>A, NM_001285391.1:c.*1510T>A, NM_001285392.2:c.*1510T>A, NM_001285392.1:c.*1510T>A, NM_203417.2:c.*1510T>A, NM_203417.1:c.*1510T>A, NM_001285393.2:c.*1510T>A, NM_001285393.1:c.*1510T>A, NM_001285389.2:c.*1510T>A, NM_001285389.1:c.*1510T>A

Select item 147680753713.

rs1476807537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:34523651 (GRCh38)
21:35895949 (GRCh37)
Canonical SPDI:: NC_000021.9:34523650:C:G,NC_000021.9:34523650:C:T
Gene:: RCAN1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.34523651C>G, NC_000021.9:g.34523651C>T, NC_000021.8:g.35895949C>G, NC_000021.8:g.35895949C>T, NG_007071.2:g.96462G>C, NG_007071.2:g.96462G>A, NG_007071.1:g.96434G>C, NG_007071.1:g.96434G>A, NM_004414.7:c.312G>C, NM_004414.7:c.312G>A, NM_004414.6:c.312G>C, NM_004414.6:c.312G>A, NM_004414.5:c.312G>C, NM_004414.5:c.312G>A, NM_203418.3:c.147G>C, NM_203418.3:c.147G>A, NM_203418.2:c.147G>C, NM_203418.2:c.147G>A, NM_203418.1:c.147G>C, NM_203418.1:c.147G>A, NM_001285391.2:c.387G>C, NM_001285391.2:c.387G>A, NM_001285391.1:c.282G>C, NM_001285391.1:c.282G>A, NM_001285392.2:c.-94G>C, NM_001285392.2:c.-94G>A, NM_001285392.1:c.-94G>C, NM_001285392.1:c.-94G>A, NM_203417.2:c.-94G>C, NM_203417.2:c.-94G>A, NM_203417.1:c.-94G>C, NM_203417.1:c.-94G>A, NM_001285393.2:c.-94G>C, NM_001285393.2:c.-94G>A, NM_001285393.1:c.-94G>C, NM_001285393.1:c.-94G>A, NM_001285389.2:c.69G>C, NM_001285389.2:c.69G>A, NM_001285389.1:c.69G>C, NM_001285389.1:c.69G>A, NM_001331016.2:c.147G>C, NM_001331016.2:c.147G>A, NM_001331016.1:c.147G>C, NM_001331016.1:c.147G>A, NP_004405.3:p.Lys104Asn, NP_981963.1:p.Lys49Asn, NP_001272320.2:p.Lys129Asn, NP_001272318.1:p.Lys23Asn, NP_001317945.1:p.Lys49Asn

Select item 147616752314.

rs1476167523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:34516596 (GRCh38)
21:35888894 (GRCh37)
Canonical SPDI:: NC_000021.9:34516595:A:G
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.34516596A>G, NC_000021.8:g.35888894A>G, NG_007071.2:g.103517T>C, NG_007071.1:g.103489T>C, NM_004414.7:c.*1488T>C, NM_004414.6:c.*1488T>C, NM_004414.5:c.*1488T>C, NM_203418.3:c.*1488T>C, NM_203418.2:c.*1488T>C, NM_203418.1:c.*1488T>C, NM_001285391.2:c.*1488T>C, NM_001285391.1:c.*1488T>C, NM_001285392.2:c.*1488T>C, NM_001285392.1:c.*1488T>C, NM_203417.2:c.*1488T>C, NM_203417.1:c.*1488T>C, NM_001285393.2:c.*1488T>C, NM_001285393.1:c.*1488T>C, NM_001285389.2:c.*1488T>C, NM_001285389.1:c.*1488T>C

Select item 147613517015.

rs1476135170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:34517795 (GRCh38)
21:35890093 (GRCh37)
Canonical SPDI:: NC_000021.9:34517794:A:G
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.34517795A>G, NC_000021.8:g.35890093A>G, NG_007071.2:g.102318T>C, NG_007071.1:g.102290T>C, NM_004414.7:c.*289T>C, NM_004414.6:c.*289T>C, NM_004414.5:c.*289T>C, NM_203418.3:c.*289T>C, NM_203418.2:c.*289T>C, NM_203418.1:c.*289T>C, NM_001285391.2:c.*289T>C, NM_001285391.1:c.*289T>C, NM_001285392.2:c.*289T>C, NM_001285392.1:c.*289T>C, NM_203417.2:c.*289T>C, NM_203417.1:c.*289T>C, NM_001285393.2:c.*289T>C, NM_001285393.1:c.*289T>C, NM_001285389.2:c.*289T>C, NM_001285389.1:c.*289T>C

Select item 147389923416.

rs1473899234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:34516982 (GRCh38)
21:35889280 (GRCh37)
Canonical SPDI:: NC_000021.9:34516981:T:C
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.34516982T>C, NC_000021.8:g.35889280T>C, NG_007071.2:g.103131A>G, NG_007071.1:g.103103A>G, NM_004414.7:c.*1102A>G, NM_004414.6:c.*1102A>G, NM_004414.5:c.*1102A>G, NM_203418.3:c.*1102A>G, NM_203418.2:c.*1102A>G, NM_203418.1:c.*1102A>G, NM_001285391.2:c.*1102A>G, NM_001285391.1:c.*1102A>G, NM_001285392.2:c.*1102A>G, NM_001285392.1:c.*1102A>G, NM_203417.2:c.*1102A>G, NM_203417.1:c.*1102A>G, NM_001285393.2:c.*1102A>G, NM_001285393.1:c.*1102A>G, NM_001285389.2:c.*1102A>G, NM_001285389.1:c.*1102A>G

Select item 147001560017.

rs1470015600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:34521510 (GRCh38)
21:35893808 (GRCh37)
Canonical SPDI:: NC_000021.9:34521509:T:G
Gene:: RCAN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000021.9:g.34521510T>G, NC_000021.8:g.35893808T>G, NG_007071.2:g.98603A>C, NG_007071.1:g.98575A>C, NM_004414.7:c.575A>C, NM_004414.6:c.575A>C, NM_004414.5:c.575A>C, NM_203418.3:c.410A>C, NM_203418.2:c.410A>C, NM_203418.1:c.410A>C, NM_001285391.2:c.650A>C, NM_001285391.1:c.545A>C, NM_001285392.2:c.170A>C, NM_001285392.1:c.170A>C, NM_203417.2:c.170A>C, NM_203417.1:c.170A>C, NM_001285393.2:c.170A>C, NM_001285393.1:c.170A>C, NM_001285389.2:c.332A>C, NM_001285389.1:c.332A>C, NM_001331016.2:c.410A>C, NM_001331016.1:c.410A>C, NP_004405.3:p.Lys192Thr, NP_981963.1:p.Lys137Thr, NP_001272320.2:p.Lys217Thr, NP_001272321.1:p.Lys57Thr, NP_981962.1:p.Lys57Thr, NP_001272322.1:p.Lys57Thr, NP_001272318.1:p.Lys111Thr, NP_001317945.1:p.Lys137Thr

Select item 146835058818.

rs1468350588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:34517520 (GRCh38)
21:35889818 (GRCh37)
Canonical SPDI:: NC_000021.9:34517519:C:T
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000021.9:g.34517520C>T, NC_000021.8:g.35889818C>T, NG_007071.2:g.102593G>A, NG_007071.1:g.102565G>A, NM_004414.7:c.*564G>A, NM_004414.6:c.*564G>A, NM_004414.5:c.*564G>A, NM_203418.3:c.*564G>A, NM_203418.2:c.*564G>A, NM_203418.1:c.*564G>A, NM_001285391.2:c.*564G>A, NM_001285391.1:c.*564G>A, NM_001285392.2:c.*564G>A, NM_001285392.1:c.*564G>A, NM_203417.2:c.*564G>A, NM_203417.1:c.*564G>A, NM_001285393.2:c.*564G>A, NM_001285393.1:c.*564G>A, NM_001285389.2:c.*564G>A, NM_001285389.1:c.*564G>A

Select item 146663582119.

rs1466635821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:34517707 (GRCh38)
21:35890005 (GRCh37)
Canonical SPDI:: NC_000021.9:34517706:C:A
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.34517707C>A, NC_000021.8:g.35890005C>A, NG_007071.2:g.102406G>T, NG_007071.1:g.102378G>T, NM_004414.7:c.*377G>T, NM_004414.6:c.*377G>T, NM_004414.5:c.*377G>T, NM_203418.3:c.*377G>T, NM_203418.2:c.*377G>T, NM_203418.1:c.*377G>T, NM_001285391.2:c.*377G>T, NM_001285391.1:c.*377G>T, NM_001285392.2:c.*377G>T, NM_001285392.1:c.*377G>T, NM_203417.2:c.*377G>T, NM_203417.1:c.*377G>T, NM_001285393.2:c.*377G>T, NM_001285393.1:c.*377G>T, NM_001285389.2:c.*377G>T, NM_001285389.1:c.*377G>T

Select item 146411812120.

rs1464118121 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:34517868 (GRCh38)
21:35890166 (GRCh37)
Canonical SPDI:: NC_000021.9:34517867:T:C
Gene:: RCAN1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.34517868T>C, NC_000021.8:g.35890166T>C, NG_007071.2:g.102245A>G, NG_007071.1:g.102217A>G, NM_004414.7:c.*216A>G, NM_004414.6:c.*216A>G, NM_004414.5:c.*216A>G, NM_203418.3:c.*216A>G, NM_203418.2:c.*216A>G, NM_203418.1:c.*216A>G, NM_001285391.2:c.*216A>G, NM_001285391.1:c.*216A>G, NM_001285392.2:c.*216A>G, NM_001285392.1:c.*216A>G, NM_203417.2:c.*216A>G, NM_203417.1:c.*216A>G, NM_001285393.2:c.*216A>G, NM_001285393.1:c.*216A>G, NM_001285389.2:c.*216A>G, NM_001285389.1:c.*216A>G

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