SNP Links for Nucleotide (Select 1034657062) - SNP

Links from Nucleotide

Items: 1 to 20 of 2352

<< First< Prev

Page of 118

Next >Last >>

Select item 14908557781.

rs1490855778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:71785103 (GRCh38)
7:71250088 (GRCh37)
Canonical SPDI:: NC_000007.14:71785102:G:A
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.71785103G>A, NC_000007.13:g.71250088G>A, NM_031468.4:c.*2672C>T, NM_031468.3:c.*2672C>T, XM_011516594.4:c.*2672C>T, XM_011516594.3:c.*2672C>T, XM_011516594.2:c.*2672C>T, XM_011516594.1:c.*2672C>T, NM_001017440.3:c.*2672C>T, NM_001017440.2:c.*2672C>T, XM_011516596.3:c.*2672C>T, XM_011516596.2:c.*2672C>T, XM_011516596.1:c.*2672C>T, XM_017012676.3:c.*2672C>T, XM_017012676.2:c.*2672C>T, XM_017012676.1:c.*2672C>T, XM_011516597.2:c.*2672C>T, XM_011516597.1:c.*2672C>T, XM_017012678.2:c.*2672C>T, XM_017012678.1:c.*2672C>T, XM_017012680.2:c.*2672C>T, XM_017012680.1:c.*2672C>T, XM_017012682.2:c.*2672C>T, XM_017012682.1:c.*2672C>T, XM_017012683.2:c.*2672C>T, XM_017012683.1:c.*2672C>T, XM_017012677.2:c.*2672C>T, XM_017012677.1:c.*2672C>T, XM_017012679.1:c.*2672C>T, XM_047420910.1:c.*2672C>T, NM_001363460.1:c.*2672C>T

Select item 14908399672.

rs1490839967 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTAGCAGTCT>- [Show Flanks]
Chromosome:: 7:71785182 (GRCh38)
7:71250167 (GRCh37)
Canonical SPDI:: NC_000007.14:71785178:TCTCTCTCTAGCAGTCT:TCT
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.71785182_71785195del, NC_000007.13:g.71250167_71250180del, NM_031468.4:c.*2583_*2596del, NM_031468.3:c.*2583_*2596del, XM_011516594.4:c.*2583_*2596del, XM_011516594.3:c.*2583_*2596del, XM_011516594.2:c.*2583_*2596del, XM_011516594.1:c.*2583_*2596del, NM_001017440.3:c.*2583_*2596del, NM_001017440.2:c.*2583_*2596del, XM_011516596.3:c.*2583_*2596del, XM_011516596.2:c.*2583_*2596del, XM_011516596.1:c.*2583_*2596del, XM_017012676.3:c.*2583_*2596del, XM_017012676.2:c.*2583_*2596del, XM_017012676.1:c.*2583_*2596del, XM_011516597.2:c.*2583_*2596del, XM_011516597.1:c.*2583_*2596del, XM_017012678.2:c.*2583_*2596del, XM_017012678.1:c.*2583_*2596del, XM_017012680.2:c.*2583_*2596del, XM_017012680.1:c.*2583_*2596del, XM_017012682.2:c.*2583_*2596del, XM_017012682.1:c.*2583_*2596del, XM_017012683.2:c.*2583_*2596del, XM_017012683.1:c.*2583_*2596del, XM_017012677.2:c.*2583_*2596del, XM_017012677.1:c.*2583_*2596del, XM_017012679.1:c.*2583_*2596del, XM_047420910.1:c.*2583_*2596del, NM_001363460.1:c.*2583_*2596del

Select item 14902573903.

rs1490257390 has merged into rs941266053 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 7:71779505 (GRCh38)
7:71244490 (GRCh37)
Canonical SPDI:: NC_000007.14:71779497:AAAAAAAAA:AAAAAAA,NC_000007.14:71779497:AAAAAAAAA:AAAAAAAA,NC_000007.14:71779497:AAAAAAAAA:AAAAAAAAAA
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00055/1 (Korea1K)
HGVS:: NC_000007.14:g.71779505_71779506del, NC_000007.14:g.71779506del, NC_000007.14:g.71779506dup, NC_000007.13:g.71244490_71244491del, NC_000007.13:g.71244491del, NC_000007.13:g.71244491dup, NM_031468.4:c.*8276_*8277del, NM_031468.4:c.*8277del, NM_031468.4:c.*8277dup, NM_031468.3:c.*8276_*8277del, NM_031468.3:c.*8277del, NM_031468.3:c.*8277dup, XM_011516594.4:c.*8276_*8277del, XM_011516594.4:c.*8277del, XM_011516594.4:c.*8277dup, XM_011516594.3:c.*8276_*8277del, XM_011516594.3:c.*8277del, XM_011516594.3:c.*8277dup, XM_011516594.2:c.*8276_*8277del, XM_011516594.2:c.*8277del, XM_011516594.2:c.*8277dup, XM_011516594.1:c.*8276_*8277del, XM_011516594.1:c.*8277del, XM_011516594.1:c.*8277dup, NM_001017440.3:c.*8276_*8277del, NM_001017440.3:c.*8277del, NM_001017440.3:c.*8277dup, NM_001017440.2:c.*8276_*8277del, NM_001017440.2:c.*8277del, NM_001017440.2:c.*8277dup, XM_011516596.3:c.*8276_*8277del, XM_011516596.3:c.*8277del, XM_011516596.3:c.*8277dup, XM_011516596.2:c.*8276_*8277del, XM_011516596.2:c.*8277del, XM_011516596.2:c.*8277dup, XM_011516596.1:c.*8276_*8277del, XM_011516596.1:c.*8277del, XM_011516596.1:c.*8277dup, XM_017012676.3:c.*8276_*8277del, XM_017012676.3:c.*8277del, XM_017012676.3:c.*8277dup, XM_017012676.2:c.*8276_*8277del, XM_017012676.2:c.*8277del, XM_017012676.2:c.*8277dup, XM_017012676.1:c.*8276_*8277del, XM_017012676.1:c.*8277del, XM_017012676.1:c.*8277dup, XM_011516597.2:c.*8276_*8277del, XM_011516597.2:c.*8277del, XM_011516597.2:c.*8277dup, XM_011516597.1:c.*8276_*8277del, XM_011516597.1:c.*8277del, XM_011516597.1:c.*8277dup, XM_017012678.2:c.*8276_*8277del, XM_017012678.2:c.*8277del, XM_017012678.2:c.*8277dup, XM_017012678.1:c.*8276_*8277del, XM_017012678.1:c.*8277del, XM_017012678.1:c.*8277dup, XM_017012680.2:c.*8276_*8277del, XM_017012680.2:c.*8277del, XM_017012680.2:c.*8277dup, XM_017012680.1:c.*8276_*8277del, XM_017012680.1:c.*8277del, XM_017012680.1:c.*8277dup, XM_017012682.2:c.*8276_*8277del, XM_017012682.2:c.*8277del, XM_017012682.2:c.*8277dup, XM_017012682.1:c.*8276_*8277del, XM_017012682.1:c.*8277del, XM_017012682.1:c.*8277dup, XM_017012683.2:c.*8276_*8277del, XM_017012683.2:c.*8277del, XM_017012683.2:c.*8277dup, XM_017012683.1:c.*8276_*8277del, XM_017012683.1:c.*8277del, XM_017012683.1:c.*8277dup, XM_017012677.2:c.*8276_*8277del, XM_017012677.2:c.*8277del, XM_017012677.2:c.*8277dup, XM_017012677.1:c.*8276_*8277del, XM_017012677.1:c.*8277del, XM_017012677.1:c.*8277dup, XM_017012679.1:c.*8276_*8277del, XM_017012679.1:c.*8277del, XM_017012679.1:c.*8277dup, XM_047420910.1:c.*8276_*8277del, XM_047420910.1:c.*8277del, XM_047420910.1:c.*8277dup, NM_001363460.1:c.*8276_*8277del, NM_001363460.1:c.*8277del, NM_001363460.1:c.*8277dup

Select item 14901072714.

rs1490107271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71780480 (GRCh38)
7:71245465 (GRCh37)
Canonical SPDI:: NC_000007.14:71780479:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.71780480T>C, NC_000007.13:g.71245465T>C, NM_031468.4:c.*7295A>G, NM_031468.3:c.*7295A>G, XM_011516594.4:c.*7295A>G, XM_011516594.3:c.*7295A>G, XM_011516594.2:c.*7295A>G, XM_011516594.1:c.*7295A>G, NM_001017440.3:c.*7295A>G, NM_001017440.2:c.*7295A>G, XM_011516596.3:c.*7295A>G, XM_011516596.2:c.*7295A>G, XM_011516596.1:c.*7295A>G, XM_017012676.3:c.*7295A>G, XM_017012676.2:c.*7295A>G, XM_017012676.1:c.*7295A>G, XM_011516597.2:c.*7295A>G, XM_011516597.1:c.*7295A>G, XM_017012678.2:c.*7295A>G, XM_017012678.1:c.*7295A>G, XM_017012680.2:c.*7295A>G, XM_017012680.1:c.*7295A>G, XM_017012682.2:c.*7295A>G, XM_017012682.1:c.*7295A>G, XM_017012683.2:c.*7295A>G, XM_017012683.1:c.*7295A>G, XM_017012677.2:c.*7295A>G, XM_017012677.1:c.*7295A>G, XM_017012679.1:c.*7295A>G, XM_047420910.1:c.*7295A>G, NM_001363460.1:c.*7295A>G

Select item 14900378055.

rs1490037805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:71785458 (GRCh38)
7:71250443 (GRCh37)
Canonical SPDI:: NC_000007.14:71785457:C:G
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.71785458C>G, NC_000007.13:g.71250443C>G, NM_031468.4:c.*2317G>C, NM_031468.3:c.*2317G>C, XM_011516594.4:c.*2317G>C, XM_011516594.3:c.*2317G>C, XM_011516594.2:c.*2317G>C, XM_011516594.1:c.*2317G>C, NM_001017440.3:c.*2317G>C, NM_001017440.2:c.*2317G>C, XM_011516596.3:c.*2317G>C, XM_011516596.2:c.*2317G>C, XM_011516596.1:c.*2317G>C, XM_017012676.3:c.*2317G>C, XM_017012676.2:c.*2317G>C, XM_017012676.1:c.*2317G>C, XM_011516597.2:c.*2317G>C, XM_011516597.1:c.*2317G>C, XM_017012678.2:c.*2317G>C, XM_017012678.1:c.*2317G>C, XM_017012680.2:c.*2317G>C, XM_017012680.1:c.*2317G>C, XM_017012682.2:c.*2317G>C, XM_017012682.1:c.*2317G>C, XM_017012683.2:c.*2317G>C, XM_017012683.1:c.*2317G>C, XM_017012677.2:c.*2317G>C, XM_017012677.1:c.*2317G>C, XM_017012679.1:c.*2317G>C, XM_047420910.1:c.*2317G>C, NM_001363460.1:c.*2317G>C

Select item 14897584096.

rs1489758409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71781520 (GRCh38)
7:71246505 (GRCh37)
Canonical SPDI:: NC_000007.14:71781519:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.71781520T>C, NC_000007.13:g.71246505T>C, NM_031468.4:c.*6255A>G, NM_031468.3:c.*6255A>G, XM_011516594.4:c.*6255A>G, XM_011516594.3:c.*6255A>G, XM_011516594.2:c.*6255A>G, XM_011516594.1:c.*6255A>G, NM_001017440.3:c.*6255A>G, NM_001017440.2:c.*6255A>G, XM_011516596.3:c.*6255A>G, XM_011516596.2:c.*6255A>G, XM_011516596.1:c.*6255A>G, XM_017012676.3:c.*6255A>G, XM_017012676.2:c.*6255A>G, XM_017012676.1:c.*6255A>G, XM_011516597.2:c.*6255A>G, XM_011516597.1:c.*6255A>G, XM_017012678.2:c.*6255A>G, XM_017012678.1:c.*6255A>G, XM_017012680.2:c.*6255A>G, XM_017012680.1:c.*6255A>G, XM_017012682.2:c.*6255A>G, XM_017012682.1:c.*6255A>G, XM_017012683.2:c.*6255A>G, XM_017012683.1:c.*6255A>G, XM_017012677.2:c.*6255A>G, XM_017012677.1:c.*6255A>G, XM_017012679.1:c.*6255A>G, XM_047420910.1:c.*6255A>G, NM_001363460.1:c.*6255A>G

Select item 14894336647.

rs1489433664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:71780488 (GRCh38)
7:71245473 (GRCh37)
Canonical SPDI:: NC_000007.14:71780487:C:A
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.71780488C>A, NC_000007.13:g.71245473C>A, NM_031468.4:c.*7287G>T, NM_031468.3:c.*7287G>T, XM_011516594.4:c.*7287G>T, XM_011516594.3:c.*7287G>T, XM_011516594.2:c.*7287G>T, XM_011516594.1:c.*7287G>T, NM_001017440.3:c.*7287G>T, NM_001017440.2:c.*7287G>T, XM_011516596.3:c.*7287G>T, XM_011516596.2:c.*7287G>T, XM_011516596.1:c.*7287G>T, XM_017012676.3:c.*7287G>T, XM_017012676.2:c.*7287G>T, XM_017012676.1:c.*7287G>T, XM_011516597.2:c.*7287G>T, XM_011516597.1:c.*7287G>T, XM_017012678.2:c.*7287G>T, XM_017012678.1:c.*7287G>T, XM_017012680.2:c.*7287G>T, XM_017012680.1:c.*7287G>T, XM_017012682.2:c.*7287G>T, XM_017012682.1:c.*7287G>T, XM_017012683.2:c.*7287G>T, XM_017012683.1:c.*7287G>T, XM_017012677.2:c.*7287G>T, XM_017012677.1:c.*7287G>T, XM_017012679.1:c.*7287G>T, XM_047420910.1:c.*7287G>T, NM_001363460.1:c.*7287G>T

Select item 14892551318.

rs1489255131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:71782369 (GRCh38)
7:71247354 (GRCh37)
Canonical SPDI:: NC_000007.14:71782368:C:T
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.71782369C>T, NC_000007.13:g.71247354C>T, NM_031468.4:c.*5406G>A, NM_031468.3:c.*5406G>A, XM_011516594.4:c.*5406G>A, XM_011516594.3:c.*5406G>A, XM_011516594.2:c.*5406G>A, XM_011516594.1:c.*5406G>A, NM_001017440.3:c.*5406G>A, NM_001017440.2:c.*5406G>A, XM_011516596.3:c.*5406G>A, XM_011516596.2:c.*5406G>A, XM_011516596.1:c.*5406G>A, XM_017012676.3:c.*5406G>A, XM_017012676.2:c.*5406G>A, XM_017012676.1:c.*5406G>A, XM_011516597.2:c.*5406G>A, XM_011516597.1:c.*5406G>A, XM_017012678.2:c.*5406G>A, XM_017012678.1:c.*5406G>A, XM_017012680.2:c.*5406G>A, XM_017012680.1:c.*5406G>A, XM_017012682.2:c.*5406G>A, XM_017012682.1:c.*5406G>A, XM_017012683.2:c.*5406G>A, XM_017012683.1:c.*5406G>A, XM_017012677.2:c.*5406G>A, XM_017012677.1:c.*5406G>A, XM_017012679.1:c.*5406G>A, XM_047420910.1:c.*5406G>A, NM_001363460.1:c.*5406G>A

Select item 14892430009.

rs1489243000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:72023672 (GRCh38)
7:71488657 (GRCh37)
Canonical SPDI:: NC_000007.14:72023671:G:A
Gene:: CALN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.72023672G>A, NC_000007.13:g.71488657G>A, NM_031468.4:c.486C>T, NM_031468.3:c.486C>T, XM_011516594.4:c.411C>T, XM_011516594.3:c.411C>T, XM_011516594.2:c.411C>T, XM_011516594.1:c.411C>T, NM_001017440.3:c.360C>T, NM_001017440.2:c.360C>T, XM_011516596.3:c.360C>T, XM_011516596.2:c.360C>T, XM_011516596.1:c.360C>T, XM_017012676.3:c.486C>T, XM_017012676.2:c.486C>T, XM_017012676.1:c.486C>T, XM_011516597.2:c.360C>T, XM_011516597.1:c.360C>T, XM_017012678.2:c.360C>T, XM_017012678.1:c.360C>T, XM_017012680.2:c.360C>T, XM_017012680.1:c.360C>T, XM_017012682.2:c.360C>T, XM_017012682.1:c.360C>T, XM_017012683.2:c.360C>T, XM_017012683.1:c.360C>T, XM_017012677.2:c.369C>T, XM_017012677.1:c.369C>T, XM_017012679.1:c.360C>T, XM_047420910.1:c.498C>T, NM_001363460.1:c.360C>T, XM_047420911.1:c.360C>T

Select item 148886632910.

rs1488866329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:71787184 (GRCh38)
7:71252169 (GRCh37)
Canonical SPDI:: NC_000007.14:71787183:G:A
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000007.14:g.71787184G>A, NC_000007.13:g.71252169G>A, NM_031468.4:c.*591C>T, NM_031468.3:c.*591C>T, XM_011516594.4:c.*591C>T, XM_011516594.3:c.*591C>T, XM_011516594.2:c.*591C>T, XM_011516594.1:c.*591C>T, NM_001017440.3:c.*591C>T, NM_001017440.2:c.*591C>T, XM_011516596.3:c.*591C>T, XM_011516596.2:c.*591C>T, XM_011516596.1:c.*591C>T, XM_017012676.3:c.*591C>T, XM_017012676.2:c.*591C>T, XM_017012676.1:c.*591C>T, XM_011516597.2:c.*591C>T, XM_011516597.1:c.*591C>T, XM_017012678.2:c.*591C>T, XM_017012678.1:c.*591C>T, XM_017012680.2:c.*591C>T, XM_017012680.1:c.*591C>T, XM_017012682.2:c.*591C>T, XM_017012682.1:c.*591C>T, XM_017012683.2:c.*591C>T, XM_017012683.1:c.*591C>T, XM_017012677.2:c.*591C>T, XM_017012677.1:c.*591C>T, XM_017012679.1:c.*591C>T, XM_047420910.1:c.*591C>T, NM_001363460.1:c.*591C>T

Select item 148881420711.

rs1488814207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71784854 (GRCh38)
7:71249839 (GRCh37)
Canonical SPDI:: NC_000007.14:71784853:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.71784854T>C, NC_000007.13:g.71249839T>C, NM_031468.4:c.*2921A>G, NM_031468.3:c.*2921A>G, XM_011516594.4:c.*2921A>G, XM_011516594.3:c.*2921A>G, XM_011516594.2:c.*2921A>G, XM_011516594.1:c.*2921A>G, NM_001017440.3:c.*2921A>G, NM_001017440.2:c.*2921A>G, XM_011516596.3:c.*2921A>G, XM_011516596.2:c.*2921A>G, XM_011516596.1:c.*2921A>G, XM_017012676.3:c.*2921A>G, XM_017012676.2:c.*2921A>G, XM_017012676.1:c.*2921A>G, XM_011516597.2:c.*2921A>G, XM_011516597.1:c.*2921A>G, XM_017012678.2:c.*2921A>G, XM_017012678.1:c.*2921A>G, XM_017012680.2:c.*2921A>G, XM_017012680.1:c.*2921A>G, XM_017012682.2:c.*2921A>G, XM_017012682.1:c.*2921A>G, XM_017012683.2:c.*2921A>G, XM_017012683.1:c.*2921A>G, XM_017012677.2:c.*2921A>G, XM_017012677.1:c.*2921A>G, XM_017012679.1:c.*2921A>G, XM_047420910.1:c.*2921A>G, NM_001363460.1:c.*2921A>G

Select item 148864029412.

rs1488640294 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:71785955 (GRCh38)
7:71250940 (GRCh37)
Canonical SPDI:: NC_000007.14:71785954:T:A
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.71785955T>A, NC_000007.13:g.71250940T>A, NM_031468.4:c.*1820A>T, NM_031468.3:c.*1820A>T, XM_011516594.4:c.*1820A>T, XM_011516594.3:c.*1820A>T, XM_011516594.2:c.*1820A>T, XM_011516594.1:c.*1820A>T, NM_001017440.3:c.*1820A>T, NM_001017440.2:c.*1820A>T, XM_011516596.3:c.*1820A>T, XM_011516596.2:c.*1820A>T, XM_011516596.1:c.*1820A>T, XM_017012676.3:c.*1820A>T, XM_017012676.2:c.*1820A>T, XM_017012676.1:c.*1820A>T, XM_011516597.2:c.*1820A>T, XM_011516597.1:c.*1820A>T, XM_017012678.2:c.*1820A>T, XM_017012678.1:c.*1820A>T, XM_017012680.2:c.*1820A>T, XM_017012680.1:c.*1820A>T, XM_017012682.2:c.*1820A>T, XM_017012682.1:c.*1820A>T, XM_017012683.2:c.*1820A>T, XM_017012683.1:c.*1820A>T, XM_017012677.2:c.*1820A>T, XM_017012677.1:c.*1820A>T, XM_017012679.1:c.*1820A>T, XM_047420910.1:c.*1820A>T, NM_001363460.1:c.*1820A>T

Select item 148847058413.

rs1488470584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71810420 (GRCh38)
7:71275405 (GRCh37)
Canonical SPDI:: NC_000007.14:71810419:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.71810420T>C, NC_000007.13:g.71275405T>C, NM_031468.4:c.574A>G, NM_031468.3:c.574A>G, XM_011516594.4:c.499A>G, XM_011516594.3:c.499A>G, XM_011516594.2:c.499A>G, XM_011516594.1:c.499A>G, NM_001017440.3:c.448A>G, NM_001017440.2:c.448A>G, XM_011516596.3:c.448A>G, XM_011516596.2:c.448A>G, XM_011516596.1:c.448A>G, XM_017012676.3:c.574A>G, XM_017012676.2:c.574A>G, XM_017012676.1:c.574A>G, XM_011516597.2:c.448A>G, XM_011516597.1:c.448A>G, XM_017012678.2:c.448A>G, XM_017012678.1:c.448A>G, XM_017012680.2:c.448A>G, XM_017012680.1:c.448A>G, XM_017012682.2:c.448A>G, XM_017012682.1:c.448A>G, XM_017012683.2:c.448A>G, XM_017012683.1:c.448A>G, XM_017012677.2:c.457A>G, XM_017012677.1:c.457A>G, XM_017012679.1:c.448A>G, XM_047420910.1:c.586A>G, NM_001363460.1:c.448A>G, NP_113656.2:p.Met192Val, XP_011514896.1:p.Met167Val, NP_001017440.1:p.Met150Val, XP_011514898.1:p.Met150Val, XP_016868165.1:p.Met192Val, XP_011514899.1:p.Met150Val, XP_016868167.1:p.Met150Val, XP_016868169.1:p.Met150Val, XP_016868171.1:p.Met150Val, XP_016868172.1:p.Met150Val, XP_016868166.1:p.Met153Val, XP_016868168.1:p.Met150Val, XP_047276866.1:p.Met196Val, NP_001350389.1:p.Met150Val

Select item 148771204014.

rs1487712040 has merged into rs1262863551 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 7:71784646 (GRCh38)
7:71249631 (GRCh37)
Canonical SPDI:: NC_000007.14:71784645:GGGGGG:GGGGG,NC_000007.14:71784645:GGGGGG:GGGGGGG
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.71784651del, NC_000007.14:g.71784651dup, NC_000007.13:g.71249636del, NC_000007.13:g.71249636dup, NM_031468.4:c.*3129del, NM_031468.4:c.*3129dup, NM_031468.3:c.*3129del, NM_031468.3:c.*3129dup, XM_011516594.4:c.*3129del, XM_011516594.4:c.*3129dup, XM_011516594.3:c.*3129del, XM_011516594.3:c.*3129dup, XM_011516594.2:c.*3129del, XM_011516594.2:c.*3129dup, XM_011516594.1:c.*3129del, XM_011516594.1:c.*3129dup, NM_001017440.3:c.*3129del, NM_001017440.3:c.*3129dup, NM_001017440.2:c.*3129del, NM_001017440.2:c.*3129dup, XM_011516596.3:c.*3129del, XM_011516596.3:c.*3129dup, XM_011516596.2:c.*3129del, XM_011516596.2:c.*3129dup, XM_011516596.1:c.*3129del, XM_011516596.1:c.*3129dup, XM_017012676.3:c.*3129del, XM_017012676.3:c.*3129dup, XM_017012676.2:c.*3129del, XM_017012676.2:c.*3129dup, XM_017012676.1:c.*3129del, XM_017012676.1:c.*3129dup, XM_011516597.2:c.*3129del, XM_011516597.2:c.*3129dup, XM_011516597.1:c.*3129del, XM_011516597.1:c.*3129dup, XM_017012678.2:c.*3129del, XM_017012678.2:c.*3129dup, XM_017012678.1:c.*3129del, XM_017012678.1:c.*3129dup, XM_017012680.2:c.*3129del, XM_017012680.2:c.*3129dup, XM_017012680.1:c.*3129del, XM_017012680.1:c.*3129dup, XM_017012682.2:c.*3129del, XM_017012682.2:c.*3129dup, XM_017012682.1:c.*3129del, XM_017012682.1:c.*3129dup, XM_017012683.2:c.*3129del, XM_017012683.2:c.*3129dup, XM_017012683.1:c.*3129del, XM_017012683.1:c.*3129dup, XM_017012677.2:c.*3129del, XM_017012677.2:c.*3129dup, XM_017012677.1:c.*3129del, XM_017012677.1:c.*3129dup, XM_017012679.1:c.*3129del, XM_017012679.1:c.*3129dup, XM_047420910.1:c.*3129del, XM_047420910.1:c.*3129dup, NM_001363460.1:c.*3129del, NM_001363460.1:c.*3129dup

Select item 148747922815.

rs1487479228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:71780887 (GRCh38)
7:71245872 (GRCh37)
Canonical SPDI:: NC_000007.14:71780886:T:G
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.71780887T>G, NC_000007.13:g.71245872T>G, NM_031468.4:c.*6888A>C, NM_031468.3:c.*6888A>C, XM_011516594.4:c.*6888A>C, XM_011516594.3:c.*6888A>C, XM_011516594.2:c.*6888A>C, XM_011516594.1:c.*6888A>C, NM_001017440.3:c.*6888A>C, NM_001017440.2:c.*6888A>C, XM_011516596.3:c.*6888A>C, XM_011516596.2:c.*6888A>C, XM_011516596.1:c.*6888A>C, XM_017012676.3:c.*6888A>C, XM_017012676.2:c.*6888A>C, XM_017012676.1:c.*6888A>C, XM_011516597.2:c.*6888A>C, XM_011516597.1:c.*6888A>C, XM_017012678.2:c.*6888A>C, XM_017012678.1:c.*6888A>C, XM_017012680.2:c.*6888A>C, XM_017012680.1:c.*6888A>C, XM_017012682.2:c.*6888A>C, XM_017012682.1:c.*6888A>C, XM_017012683.2:c.*6888A>C, XM_017012683.1:c.*6888A>C, XM_017012677.2:c.*6888A>C, XM_017012677.1:c.*6888A>C, XM_017012679.1:c.*6888A>C, XM_047420910.1:c.*6888A>C, NM_001363460.1:c.*6888A>C

Select item 148743280016.

rs1487432800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:71780319 (GRCh38)
7:71245304 (GRCh37)
Canonical SPDI:: NC_000007.14:71780318:T:C,NC_000007.14:71780318:T:G
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.71780319T>C, NC_000007.14:g.71780319T>G, NC_000007.13:g.71245304T>C, NC_000007.13:g.71245304T>G, NM_031468.4:c.*7456A>G, NM_031468.4:c.*7456A>C, NM_031468.3:c.*7456A>G, NM_031468.3:c.*7456A>C, XM_011516594.4:c.*7456A>G, XM_011516594.4:c.*7456A>C, XM_011516594.3:c.*7456A>G, XM_011516594.3:c.*7456A>C, XM_011516594.2:c.*7456A>G, XM_011516594.2:c.*7456A>C, XM_011516594.1:c.*7456A>G, XM_011516594.1:c.*7456A>C, NM_001017440.3:c.*7456A>G, NM_001017440.3:c.*7456A>C, NM_001017440.2:c.*7456A>G, NM_001017440.2:c.*7456A>C, XM_011516596.3:c.*7456A>G, XM_011516596.3:c.*7456A>C, XM_011516596.2:c.*7456A>G, XM_011516596.2:c.*7456A>C, XM_011516596.1:c.*7456A>G, XM_011516596.1:c.*7456A>C, XM_017012676.3:c.*7456A>G, XM_017012676.3:c.*7456A>C, XM_017012676.2:c.*7456A>G, XM_017012676.2:c.*7456A>C, XM_017012676.1:c.*7456A>G, XM_017012676.1:c.*7456A>C, XM_011516597.2:c.*7456A>G, XM_011516597.2:c.*7456A>C, XM_011516597.1:c.*7456A>G, XM_011516597.1:c.*7456A>C, XM_017012678.2:c.*7456A>G, XM_017012678.2:c.*7456A>C, XM_017012678.1:c.*7456A>G, XM_017012678.1:c.*7456A>C, XM_017012680.2:c.*7456A>G, XM_017012680.2:c.*7456A>C, XM_017012680.1:c.*7456A>G, XM_017012680.1:c.*7456A>C, XM_017012682.2:c.*7456A>G, XM_017012682.2:c.*7456A>C, XM_017012682.1:c.*7456A>G, XM_017012682.1:c.*7456A>C, XM_017012683.2:c.*7456A>G, XM_017012683.2:c.*7456A>C, XM_017012683.1:c.*7456A>G, XM_017012683.1:c.*7456A>C, XM_017012677.2:c.*7456A>G, XM_017012677.2:c.*7456A>C, XM_017012677.1:c.*7456A>G, XM_017012677.1:c.*7456A>C, XM_017012679.1:c.*7456A>G, XM_017012679.1:c.*7456A>C, XM_047420910.1:c.*7456A>G, XM_047420910.1:c.*7456A>C, NM_001363460.1:c.*7456A>G, NM_001363460.1:c.*7456A>C

Select item 148702737817.

rs1487027378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71784578 (GRCh38)
7:71249563 (GRCh37)
Canonical SPDI:: NC_000007.14:71784577:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_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_000007.14:g.71784578T>C, NC_000007.13:g.71249563T>C, NM_031468.4:c.*3197A>G, NM_031468.3:c.*3197A>G, XM_011516594.4:c.*3197A>G, XM_011516594.3:c.*3197A>G, XM_011516594.2:c.*3197A>G, XM_011516594.1:c.*3197A>G, NM_001017440.3:c.*3197A>G, NM_001017440.2:c.*3197A>G, XM_011516596.3:c.*3197A>G, XM_011516596.2:c.*3197A>G, XM_011516596.1:c.*3197A>G, XM_017012676.3:c.*3197A>G, XM_017012676.2:c.*3197A>G, XM_017012676.1:c.*3197A>G, XM_011516597.2:c.*3197A>G, XM_011516597.1:c.*3197A>G, XM_017012678.2:c.*3197A>G, XM_017012678.1:c.*3197A>G, XM_017012680.2:c.*3197A>G, XM_017012680.1:c.*3197A>G, XM_017012682.2:c.*3197A>G, XM_017012682.1:c.*3197A>G, XM_017012683.2:c.*3197A>G, XM_017012683.1:c.*3197A>G, XM_017012677.2:c.*3197A>G, XM_017012677.1:c.*3197A>G, XM_017012679.1:c.*3197A>G, XM_047420910.1:c.*3197A>G, NM_001363460.1:c.*3197A>G

Select item 148700508818.

rs1487005088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:71786568 (GRCh38)
7:71251553 (GRCh37)
Canonical SPDI:: NC_000007.14:71786567:A:G,NC_000007.14:71786567:A:T
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.71786568A>G, NC_000007.14:g.71786568A>T, NC_000007.13:g.71251553A>G, NC_000007.13:g.71251553A>T, NM_031468.4:c.*1207T>C, NM_031468.4:c.*1207T>A, NM_031468.3:c.*1207T>C, NM_031468.3:c.*1207T>A, XM_011516594.4:c.*1207T>C, XM_011516594.4:c.*1207T>A, XM_011516594.3:c.*1207T>C, XM_011516594.3:c.*1207T>A, XM_011516594.2:c.*1207T>C, XM_011516594.2:c.*1207T>A, XM_011516594.1:c.*1207T>C, XM_011516594.1:c.*1207T>A, NM_001017440.3:c.*1207T>C, NM_001017440.3:c.*1207T>A, NM_001017440.2:c.*1207T>C, NM_001017440.2:c.*1207T>A, XM_011516596.3:c.*1207T>C, XM_011516596.3:c.*1207T>A, XM_011516596.2:c.*1207T>C, XM_011516596.2:c.*1207T>A, XM_011516596.1:c.*1207T>C, XM_011516596.1:c.*1207T>A, XM_017012676.3:c.*1207T>C, XM_017012676.3:c.*1207T>A, XM_017012676.2:c.*1207T>C, XM_017012676.2:c.*1207T>A, XM_017012676.1:c.*1207T>C, XM_017012676.1:c.*1207T>A, XM_011516597.2:c.*1207T>C, XM_011516597.2:c.*1207T>A, XM_011516597.1:c.*1207T>C, XM_011516597.1:c.*1207T>A, XM_017012678.2:c.*1207T>C, XM_017012678.2:c.*1207T>A, XM_017012678.1:c.*1207T>C, XM_017012678.1:c.*1207T>A, XM_017012680.2:c.*1207T>C, XM_017012680.2:c.*1207T>A, XM_017012680.1:c.*1207T>C, XM_017012680.1:c.*1207T>A, XM_017012682.2:c.*1207T>C, XM_017012682.2:c.*1207T>A, XM_017012682.1:c.*1207T>C, XM_017012682.1:c.*1207T>A, XM_017012683.2:c.*1207T>C, XM_017012683.2:c.*1207T>A, XM_017012683.1:c.*1207T>C, XM_017012683.1:c.*1207T>A, XM_017012677.2:c.*1207T>C, XM_017012677.2:c.*1207T>A, XM_017012677.1:c.*1207T>C, XM_017012677.1:c.*1207T>A, XM_017012679.1:c.*1207T>C, XM_017012679.1:c.*1207T>A, XM_047420910.1:c.*1207T>C, XM_047420910.1:c.*1207T>A, NM_001363460.1:c.*1207T>C, NM_001363460.1:c.*1207T>A

Select item 148690840419.

rs1486908404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:71785060 (GRCh38)
7:71250045 (GRCh37)
Canonical SPDI:: NC_000007.14:71785059:G:A
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.71785060G>A, NC_000007.13:g.71250045G>A, NM_031468.4:c.*2715C>T, NM_031468.3:c.*2715C>T, XM_011516594.4:c.*2715C>T, XM_011516594.3:c.*2715C>T, XM_011516594.2:c.*2715C>T, XM_011516594.1:c.*2715C>T, NM_001017440.3:c.*2715C>T, NM_001017440.2:c.*2715C>T, XM_011516596.3:c.*2715C>T, XM_011516596.2:c.*2715C>T, XM_011516596.1:c.*2715C>T, XM_017012676.3:c.*2715C>T, XM_017012676.2:c.*2715C>T, XM_017012676.1:c.*2715C>T, XM_011516597.2:c.*2715C>T, XM_011516597.1:c.*2715C>T, XM_017012678.2:c.*2715C>T, XM_017012678.1:c.*2715C>T, XM_017012680.2:c.*2715C>T, XM_017012680.1:c.*2715C>T, XM_017012682.2:c.*2715C>T, XM_017012682.1:c.*2715C>T, XM_017012683.2:c.*2715C>T, XM_017012683.1:c.*2715C>T, XM_017012677.2:c.*2715C>T, XM_017012677.1:c.*2715C>T, XM_017012679.1:c.*2715C>T, XM_047420910.1:c.*2715C>T, NM_001363460.1:c.*2715C>T

Select item 148685854520.

rs1486858545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:71782711 (GRCh38)
7:71247696 (GRCh37)
Canonical SPDI:: NC_000007.14:71782710:T:C
Gene:: CALN1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.71782711T>C, NC_000007.13:g.71247696T>C, NM_031468.4:c.*5064A>G, NM_031468.3:c.*5064A>G, XM_011516594.4:c.*5064A>G, XM_011516594.3:c.*5064A>G, XM_011516594.2:c.*5064A>G, XM_011516594.1:c.*5064A>G, NM_001017440.3:c.*5064A>G, NM_001017440.2:c.*5064A>G, XM_011516596.3:c.*5064A>G, XM_011516596.2:c.*5064A>G, XM_011516596.1:c.*5064A>G, XM_017012676.3:c.*5064A>G, XM_017012676.2:c.*5064A>G, XM_017012676.1:c.*5064A>G, XM_011516597.2:c.*5064A>G, XM_011516597.1:c.*5064A>G, XM_017012678.2:c.*5064A>G, XM_017012678.1:c.*5064A>G, XM_017012680.2:c.*5064A>G, XM_017012680.1:c.*5064A>G, XM_017012682.2:c.*5064A>G, XM_017012682.1:c.*5064A>G, XM_017012683.2:c.*5064A>G, XM_017012683.1:c.*5064A>G, XM_017012677.2:c.*5064A>G, XM_017012677.1:c.*5064A>G, XM_017012679.1:c.*5064A>G, XM_047420910.1:c.*5064A>G, NM_001363460.1:c.*5064A>G

<< First< Prev

Page of 118

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 2352

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity