SNP Links for Nucleotide (Select 1060099178) - SNP

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Links from Nucleotide

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Select item 14558925051.

rs1455892505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:111908717 (GRCh38)
11:111779441 (GRCh37)
Canonical SPDI:: NC_000011.10:111908716:G:A,NC_000011.10:111908716:G:T
Gene:: CRYAB (Varview)
Functional Consequence:: 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)
HGVS:: NC_000011.10:g.111908717G>A, NC_000011.10:g.111908717G>T, NC_000011.9:g.111779441G>A, NC_000011.9:g.111779441G>T, NG_009824.3:g.20006C>T, NG_009824.3:g.20006C>A, NM_001885.3:c.*47C>T, NM_001885.3:c.*47C>A, NM_001885.2:c.*47C>T, NM_001885.2:c.*47C>A, NM_001885.1:c.*47C>T, NM_001885.1:c.*47C>A, NM_001289808.2:c.*47C>T, NM_001289808.2:c.*47C>A, NM_001289808.1:c.*47C>T, NM_001289808.1:c.*47C>A, NM_001368245.1:c.*47C>T, NM_001368245.1:c.*47C>A, NM_001289807.1:c.*47C>T, NM_001289807.1:c.*47C>A, NM_001368246.1:c.*47C>T, NM_001368246.1:c.*47C>A, NM_001330379.1:c.*47C>T, NM_001330379.1:c.*47C>A, NG_033080.2:g.982G>A, NG_033080.2:g.982G>T, NW_003871080.1:g.160708G>A, NW_003871080.1:g.160708G>T

Select item 14172761182.

rs1417276118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111910686 (GRCh38)
11:111781410 (GRCh37)
Canonical SPDI:: NC_000011.10:111910685:G:A
Gene:: CRYAB (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.111910686G>A, NC_000011.9:g.111781410G>A, NG_009824.3:g.18037C>T, NM_001368246.1:c.-237C>T, NM_001330379.1:c.-16C>T, NG_033080.2:g.2951G>A, NW_003871080.1:g.162677G>A

Select item 14092730453.

rs1409273045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:111908833 (GRCh38)
11:111779557 (GRCh37)
Canonical SPDI:: NC_000011.10:111908832:A:G
Gene:: CRYAB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111908833A>G, NC_000011.9:g.111779557A>G, NG_009824.3:g.19890T>C, NM_001885.3:c.459T>C, NM_001885.2:c.459T>C, NM_001885.1:c.459T>C, NM_001289808.2:c.459T>C, NM_001289808.1:c.459T>C, NM_001368245.1:c.459T>C, NM_001289807.1:c.459T>C, NM_001368246.1:c.258T>C, NM_001330379.1:c.258T>C, NG_033080.2:g.1098A>G, NW_003871080.1:g.160824A>G

Select item 13820468924.

rs1382046892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:111910690 (GRCh38)
11:111781414 (GRCh37)
Canonical SPDI:: NC_000011.10:111910689:G:C
Gene:: CRYAB (Varview)
Functional Consequence:: intron_variant,5_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_000011.10:g.111910690G>C, NC_000011.9:g.111781414G>C, NG_009824.3:g.18033C>G, NM_001368246.1:c.-241C>G, NM_001330379.1:c.-20C>G, NG_033080.2:g.2955G>C, NW_003871080.1:g.162681G>C

Select item 13503042365.

rs1350304236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:111910671 (GRCh38)
11:111781395 (GRCh37)
Canonical SPDI:: NC_000011.10:111910670:A:G
Gene:: CRYAB (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.111910671A>G, NC_000011.9:g.111781395A>G, NG_009824.3:g.18052T>C, NM_001368246.1:c.-222T>C, NM_001330379.1:c.-1T>C, NG_033080.2:g.2936A>G, NW_003871080.1:g.162662A>G

Select item 13488379686.

rs1348837968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111908799 (GRCh38)
11:111779523 (GRCh37)
Canonical SPDI:: NC_000011.10:111908798:C:T
Gene:: CRYAB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.111908799C>T, NC_000011.9:g.111779523C>T, NG_009824.3:g.19924G>A, NM_001885.3:c.493G>A, NM_001885.2:c.493G>A, NM_001885.1:c.493G>A, NM_001289808.2:c.493G>A, NM_001289808.1:c.493G>A, NM_001368245.1:c.493G>A, NM_001289807.1:c.493G>A, NM_001368246.1:c.292G>A, NM_001330379.1:c.292G>A, NG_033080.2:g.1064C>T, NW_003871080.1:g.160790C>T, NP_001876.1:p.Glu165Lys, NP_001276737.1:p.Glu165Lys, NP_001355174.1:p.Glu165Lys, NP_001276736.1:p.Glu165Lys, NP_001355175.1:p.Glu98Lys, NP_001317308.1:p.Glu98Lys

Select item 13406598837.

rs1340659883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:111908637 (GRCh38)
11:111779361 (GRCh37)
Canonical SPDI:: NC_000011.10:111908636:A:G
Gene:: CRYAB (Varview)
Functional Consequence:: 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_000011.10:g.111908637A>G, NC_000011.9:g.111779361A>G, NG_009824.3:g.20086T>C, NM_001885.3:c.*127T>C, NM_001885.2:c.*127T>C, NM_001885.1:c.*127T>C, NM_001289808.2:c.*127T>C, NM_001289808.1:c.*127T>C, NM_001368245.1:c.*127T>C, NM_001289807.1:c.*127T>C, NM_001368246.1:c.*127T>C, NM_001330379.1:c.*127T>C, NG_033080.2:g.902A>G, NW_003871080.1:g.160628A>G

Select item 13273834798.

rs1327383479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:111908907 (GRCh38)
11:111779631 (GRCh37)
Canonical SPDI:: NC_000011.10:111908906:C:T
Gene:: CRYAB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.111908907C>T, NC_000011.9:g.111779631C>T, NG_009824.3:g.19816G>A, NM_001885.3:c.385G>A, NM_001885.2:c.385G>A, NM_001885.1:c.385G>A, NM_001289808.2:c.385G>A, NM_001289808.1:c.385G>A, NM_001368245.1:c.385G>A, NM_001289807.1:c.385G>A, NM_001368246.1:c.184G>A, NM_001330379.1:c.184G>A, NG_033080.2:g.1172C>T, NW_003871080.1:g.160898C>T, NP_001876.1:p.Asp129Asn, NP_001276737.1:p.Asp129Asn, NP_001355174.1:p.Asp129Asn, NP_001276736.1:p.Asp129Asn, NP_001355175.1:p.Asp62Asn, NP_001317308.1:p.Asp62Asn

Select item 13260395979.

rs1326039597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111908926 (GRCh38)
11:111779650 (GRCh37)
Canonical SPDI:: NC_000011.10:111908925:G:A
Gene:: CRYAB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.111908926G>A, NC_000011.9:g.111779650G>A, NG_009824.3:g.19797C>T, NM_001885.3:c.366C>T, NM_001885.2:c.366C>T, NM_001885.1:c.366C>T, NM_001289808.2:c.366C>T, NM_001289808.1:c.366C>T, NM_001368245.1:c.366C>T, NM_001289807.1:c.366C>T, NM_001368246.1:c.165C>T, NM_001330379.1:c.165C>T, NG_033080.2:g.1191G>A, NW_003871080.1:g.160917G>A

Select item 131055777810.

rs1310557778 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:111910712 (GRCh38)
11:111781436 (GRCh37)
Canonical SPDI:: NC_000011.10:111910711:AA:A
Gene:: CRYAB (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000011.10:g.111910713del, NC_000011.9:g.111781437del, NG_009824.3:g.18011del, NM_001368246.1:c.-263del, NM_001330379.1:c.-42del, NG_033080.2:g.2978del, NW_003871080.1:g.162704del

Select item 130594342211.

rs1305943422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:111908683 (GRCh38)
11:111779407 (GRCh37)
Canonical SPDI:: NC_000011.10:111908682:G:A
Gene:: CRYAB (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.111908683G>A, NC_000011.9:g.111779407G>A, NG_009824.3:g.20040C>T, NM_001885.3:c.*81C>T, NM_001885.2:c.*81C>T, NM_001885.1:c.*81C>T, NM_001289808.2:c.*81C>T, NM_001289808.1:c.*81C>T, NM_001368245.1:c.*81C>T, NM_001289807.1:c.*81C>T, NM_001368246.1:c.*81C>T, NM_001330379.1:c.*81C>T, NG_033080.2:g.948G>A, NW_003871080.1:g.160674G>A

Select item 130569414412.

rs1305694144 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGGCATC>- [Show Flanks]
Chromosome:: 11:111910728 (GRCh38)
11:111781452 (GRCh37)
Canonical SPDI:: NC_000011.10:111910726:CCTGGCATC:C
Gene:: CRYAB (Varview), HSPB2 (Varview), HSPB2-C11orf52 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.111910728_111910735del, NC_000011.9:g.111781452_111781459del, NG_009824.3:g.17989_17996del, NM_001368246.1:c.-285_-278del, NM_001330379.1:c.-64_-57del, NG_033080.2:g.2993_3000del, NW_003871080.1:g.162719_162726del