SNP Links for Nucleotide (Select 296040458) - SNP

Links from Nucleotide

Items: 1 to 20 of 3643

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Select item 14914485111.

rs1491448511 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:91062893 (GRCh38)
12:91456670 (GRCh37)
Canonical SPDI:: NC_000012.12:91062892:TA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.023183/275 (ALFA)
-=0.028934/3755 (GnomAD)
-=0.035134/225 (1000Genomes)
HGVS:: NC_000012.12:g.91062893_91062894del, NC_000012.11:g.91456670_91456671del, NG_021223.1:g.461_462del

Select item 14913061712.

rs1491306171 has merged into rs1190281593 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 12:91056977 (GRCh38)
12:91450754 (GRCh37)
Canonical SPDI:: NC_000012.12:91056975:TTT:T,NC_000012.12:91056975:TTT:TTTTT
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000239/4 (TOMMO)
-=0.007096/13 (Korea1K)
HGVS:: NC_000012.12:g.91056977_91056978del, NC_000012.12:g.91056977_91056978dup, NC_000012.11:g.91450754_91450755del, NC_000012.11:g.91450754_91450755dup, NG_021223.1:g.6378_6379del, NG_021223.1:g.6378_6379dup

Select item 14913052923.

rs1491305292 has merged into rs1004537084 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 12:91062895 (GRCh38)
12:91456672 (GRCh37)
Canonical SPDI:: NC_000012.12:91062893:AAA:A,NC_000012.12:91062893:AAA:AA,NC_000012.12:91062893:AAA:AAAA
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000033/4 (GnomAD)
HGVS:: NC_000012.12:g.91062895_91062896del, NC_000012.12:g.91062896del, NC_000012.12:g.91062896dup, NC_000012.11:g.91456672_91456673del, NC_000012.11:g.91456673del, NC_000012.11:g.91456673dup, NG_021223.1:g.460_461del, NG_021223.1:g.461del, NG_021223.1:g.461dup

Select item 14910470344.

rs1491047034 has merged into rs145720565 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 12:91057036 (GRCh38)
12:91450813 (GRCh37)
Canonical SPDI:: NC_000012.12:91057028:TATATATAT:TATATAT,NC_000012.12:91057028:TATATATAT:TATATATATAT,NC_000012.12:91057028:TATATATAT:TATATATATATAT
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.025/1 (GENOME_DK)
TA=0.0521/52 (GoNL)
TA=0.05259/195 (TWINSUK)
TA=0.05527/213 (ALSPAC)
TA=0.08167/49 (NorthernSweden)
TA=0.12607/2113 (TOMMO)
TA=0.13426/29 (Vietnamese)
TA=0.13958/699 (1000Genomes)
HGVS:: NC_000012.12:g.91057030AT[3], NC_000012.12:g.91057030AT[5], NC_000012.12:g.91057030AT[6], NC_000012.11:g.91450807AT[3], NC_000012.11:g.91450807AT[5], NC_000012.11:g.91450807AT[6], NG_021223.1:g.6319TA[3], NG_021223.1:g.6319TA[5], NG_021223.1:g.6319TA[6]

Select item 14909703145.

rs1490970314 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:91048675 (GRCh38)
12:91442452 (GRCh37)
Canonical SPDI:: NC_000012.12:91048674:G:T
Validated:: by frequency,by alfa
MAF:: T=0.0045/20 (ALFA)
T=0.0045/20 (Estonian)
HGVS:: NC_000012.12:g.91048675G>T, NC_000012.11:g.91442452G>T, NG_021223.1:g.14680C>A

Select item 14908073896.

rs1490807389 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 12:91054797 (GRCh38)
12:91448574 (GRCh37)
Canonical SPDI:: NC_000012.12:91054796:AA:A
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000142/2 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.91054798del, NC_000012.11:g.91448575del, NG_021223.1:g.8558del

Select item 14906987357.

rs1490698735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:91051250 (GRCh38)
12:91445027 (GRCh37)
Canonical SPDI:: NC_000012.12:91051249:G:A
Gene:: KERA (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.00005/7 (GnomAD)
A=0.000076/20 (TOPMED)
HGVS:: NC_000012.12:g.91051250G>A, NC_000012.11:g.91445027G>A, NG_021223.1:g.12105C>T, NM_007035.3:c.*96C>T, NM_007035.4:c.*96C>T

Select item 14906649898.

rs1490664989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:91055364 (GRCh38)
12:91449141 (GRCh37)
Canonical SPDI:: NC_000012.12:91055363:T:C
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91055364T>C, NC_000012.11:g.91449141T>C, NG_021223.1:g.7991A>G

Select item 14906443599.

rs1490644359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:91055253 (GRCh38)
12:91449030 (GRCh37)
Canonical SPDI:: NC_000012.12:91055252:T:C
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.91055253T>C, NC_000012.11:g.91449030T>C, NG_021223.1:g.8102A>G

Select item 149028002510.

rs1490280025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:91055374 (GRCh38)
12:91449151 (GRCh37)
Canonical SPDI:: NC_000012.12:91055373:A:G
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.91055374A>G, NC_000012.11:g.91449151A>G, NG_021223.1:g.7981T>C

Select item 149026328711.

rs1490263287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:91055019 (GRCh38)
12:91448796 (GRCh37)
Canonical SPDI:: NC_000012.12:91055018:T:C
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.91055019T>C, NC_000012.11:g.91448796T>C, NG_021223.1:g.8336A>G

Select item 149020952712.

rs1490209527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:91052473 (GRCh38)
12:91446250 (GRCh37)
Canonical SPDI:: NC_000012.12:91052472:G:C
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.91052473G>C, NC_000012.11:g.91446250G>C, NG_021223.1:g.10882C>G

Select item 148966591313.

rs1489665913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:91061876 (GRCh38)
12:91455653 (GRCh37)
Canonical SPDI:: NC_000012.12:91061875:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000064/9 (GnomAD)
C=0.000087/23 (TOPMED)
HGVS:: NC_000012.12:g.91061876T>C, NC_000012.11:g.91455653T>C, NG_021223.1:g.1479A>G

Select item 148946660814.

rs1489466608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:91057094 (GRCh38)
12:91450871 (GRCh37)
Canonical SPDI:: NC_000012.12:91057093:C:A
Gene:: KERA (Varview)
Functional Consequence:: intron_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_000012.12:g.91057094C>A, NC_000012.11:g.91450871C>A, NG_021223.1:g.6261G>T

Select item 148936518915.

rs1489365189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:91057889 (GRCh38)
12:91451666 (GRCh37)
Canonical SPDI:: NC_000012.12:91057888:A:G
Gene:: KERA (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.91057889A>G, NC_000012.11:g.91451666A>G, NG_021223.1:g.5466T>C, NM_007035.3:c.-154T>C, NM_007035.4:c.-154T>C

Select item 148910042616.

rs1489100426 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:91054210 (GRCh38)
12:91447987 (GRCh37)
Canonical SPDI:: NC_000012.12:91054209:A:G
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.91054210A>G, NC_000012.11:g.91447987A>G, NG_021223.1:g.9145T>C

Select item 148873983017.

rs1488739830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:91049853 (GRCh38)
12:91443630 (GRCh37)
Canonical SPDI:: NC_000012.12:91049852:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.91049853T>C, NC_000012.11:g.91443630T>C, NG_021223.1:g.13502A>G

Select item 148845847618.

rs1488458476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:91056013 (GRCh38)
12:91449790 (GRCh37)
Canonical SPDI:: NC_000012.12:91056012:G:A
Gene:: KERA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.91056013G>A, NC_000012.11:g.91449790G>A, NG_021223.1:g.7342C>T, NM_007035.3:c.269C>T, NM_007035.4:c.269C>T, NP_008966.1:p.Pro90Leu

Select item 148836947319.

rs1488369473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:91057351 (GRCh38)
12:91451128 (GRCh37)
Canonical SPDI:: NC_000012.12:91057350:G:A
Gene:: KERA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.91057351G>A, NC_000012.11:g.91451128G>A, NG_021223.1:g.6004C>T

Select item 148836330820.

rs1488363308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:91049558 (GRCh38)
12:91443335 (GRCh37)
Canonical SPDI:: NC_000012.12:91049557:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.91049558C>T, NC_000012.11:g.91443335C>T, NG_021223.1:g.13797G>A

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