SNP Links for Nucleotide (Select 190358494) - SNP

Links from Nucleotide

Items: 1 to 20 of 3307

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Select item 14912469771.

rs1491246977 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:29247597 (GRCh38)
17:27574616 (GRCh37)
Canonical SPDI:: NC_000017.11:29247597:T:TT
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.29247598dup, NC_000017.10:g.27574616dup, NG_008037.1:g.5742dup

Select item 14908119452.

rs1490811945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29248840 (GRCh38)
17:27575858 (GRCh37)
Canonical SPDI:: NC_000017.11:29248839:T:C
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29248840T>C, NC_000017.10:g.27575858T>C, NG_008037.1:g.6984T>C

Select item 14908051623.

rs1490805162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:29242812 (GRCh38)
17:27569830 (GRCh37)
Canonical SPDI:: NC_000017.11:29242811:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29242812G>T, NC_000017.10:g.27569830G>T, NG_008037.1:g.956G>T

Select item 14906485904.

rs1490648590 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 17:29250055 (GRCh38)
17:27577073 (GRCh37)
Canonical SPDI:: NC_000017.11:29250053:CCTC:C
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000264/4 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000893/4 (Estonian)
HGVS:: NC_000017.11:g.29250055_29250057del, NC_000017.10:g.27577073_27577075del, NG_008037.1:g.8199_8201del

Select item 14903152855.

rs1490315285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:29242273 (GRCh38)
17:27569291 (GRCh37)
Canonical SPDI:: NC_000017.11:29242272:G:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29242273G>C, NC_000017.10:g.27569291G>C, NG_008037.1:g.417G>C

Select item 14902558496.

rs1490255849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29250317 (GRCh38)
17:27577335 (GRCh37)
Canonical SPDI:: NC_000017.11:29250316:G:A
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29250317G>A, NC_000017.10:g.27577335G>A, NG_008037.1:g.8461G>A

Select item 14900507487.

rs1490050748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29249015 (GRCh38)
17:27576033 (GRCh37)
Canonical SPDI:: NC_000017.11:29249014:C:T
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000142/2 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29249015C>T, NC_000017.10:g.27576033C>T, NG_008037.1:g.7159C>T

Select item 14898105358.

rs1489810535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:29253926 (GRCh38)
17:27580944 (GRCh37)
Canonical SPDI:: NC_000017.11:29253925:C:A
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29253926C>A, NC_000017.10:g.27580944C>A, NG_008037.1:g.12070C>A

Select item 14891804279.

rs1489180427 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29246474 (GRCh38)
17:27573492 (GRCh37)
Canonical SPDI:: NC_000017.11:29246473:C:T
Gene:: CRYBA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29246474C>T, NC_000017.10:g.27573492C>T, NG_008037.1:g.4618C>T

Select item 148896188510.

rs1488961885 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:29252021 (GRCh38)
17:27579040 (GRCh37)
Canonical SPDI:: NC_000017.11:29252021:A:AA
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
A=0.000024/6 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.29252022dup, NC_000017.10:g.27579040dup, NG_008037.1:g.10166dup

Select item 148868741711.

rs1488687417 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:29247598 (GRCh38)
17:27574616 (GRCh37)
Canonical SPDI:: NC_000017.11:29247597:T:C,NC_000017.11:29247597:T:G
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0./0 (SGDP_PRJ)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29247598T>C, NC_000017.11:g.29247598T>G, NC_000017.10:g.27574616T>C, NC_000017.10:g.27574616T>G, NG_008037.1:g.5742T>C, NG_008037.1:g.5742T>G

Select item 148858266212.

rs1488582662 has merged into rs542921026 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:29244451 (GRCh38)
17:27571469 (GRCh37)
Canonical SPDI:: NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:29244443:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.29244451_29244458del, NC_000017.11:g.29244452_29244458del, NC_000017.11:g.29244456_29244458del, NC_000017.11:g.29244457_29244458del, NC_000017.11:g.29244458del, NC_000017.11:g.29244458dup, NC_000017.11:g.29244457_29244458dup, NC_000017.11:g.29244456_29244458dup, NC_000017.11:g.29244455_29244458dup, NC_000017.11:g.29244454_29244458dup, NC_000017.11:g.29244452_29244458dup, NC_000017.11:g.29244451_29244458dup, NC_000017.11:g.29244450_29244458dup, NC_000017.10:g.27571469_27571476del, NC_000017.10:g.27571470_27571476del, NC_000017.10:g.27571474_27571476del, NC_000017.10:g.27571475_27571476del, NC_000017.10:g.27571476del, NC_000017.10:g.27571476dup, NC_000017.10:g.27571475_27571476dup, NC_000017.10:g.27571474_27571476dup, NC_000017.10:g.27571473_27571476dup, NC_000017.10:g.27571472_27571476dup, NC_000017.10:g.27571470_27571476dup, NC_000017.10:g.27571469_27571476dup, NC_000017.10:g.27571468_27571476dup, NG_008037.1:g.2595_2602del, NG_008037.1:g.2596_2602del, NG_008037.1:g.2600_2602del, NG_008037.1:g.2601_2602del, NG_008037.1:g.2602del, NG_008037.1:g.2602dup, NG_008037.1:g.2601_2602dup, NG_008037.1:g.2600_2602dup, NG_008037.1:g.2599_2602dup, NG_008037.1:g.2598_2602dup, NG_008037.1:g.2596_2602dup, NG_008037.1:g.2595_2602dup, NG_008037.1:g.2594_2602dup

Select item 148797883413.

rs1487978834 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:29251650 (GRCh38)
17:27578668 (GRCh37)
Canonical SPDI:: NC_000017.11:29251649:TTTTT:TTTT
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.29251654del, NC_000017.10:g.27578672del, NG_008037.1:g.9798del

Select item 148786124414.

rs1487861244 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:29255705 (GRCh38)
17:27582723 (GRCh37)
Canonical SPDI:: NC_000017.11:29255704:A:G
Gene:: NUFIP2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000053/14 (TOPMED)
HGVS:: NC_000017.11:g.29255705A>G, NC_000017.10:g.27582723A>G, NG_008037.1:g.13849A>G

Select item 148753605915.

rs1487536059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29243156 (GRCh38)
17:27570174 (GRCh37)
Canonical SPDI:: NC_000017.11:29243155:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.29243156T>C, NC_000017.10:g.27570174T>C, NG_008037.1:g.1300T>C

Select item 148714939416.

rs1487149394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:29252601 (GRCh38)
17:27579619 (GRCh37)
Canonical SPDI:: NC_000017.11:29252600:C:A
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00246/11 (ALFA)
A=0.00011/3 (TOMMO)
A=0.00246/11 (Estonian)
HGVS:: NC_000017.11:g.29252601C>A, NC_000017.10:g.27579619C>A, NG_008037.1:g.10745C>A

Select item 148714378817.

rs1487143788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29243131 (GRCh38)
17:27570149 (GRCh37)
Canonical SPDI:: NC_000017.11:29243130:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.29243131C>T, NC_000017.10:g.27570149C>T, NG_008037.1:g.1275C>T

Select item 148693711318.

rs1486937113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29254402 (GRCh38)
17:27581420 (GRCh37)
Canonical SPDI:: NC_000017.11:29254401:C:T
Gene:: CRYBA1 (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_000017.11:g.29254402C>T, NC_000017.10:g.27581420C>T, NG_008037.1:g.12546C>T, NM_005208.5:c.*53C>T, NM_005208.4:c.*53C>T

Select item 148647789719.

rs1486477897 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 17:29247353 (GRCh38)
17:27574371 (GRCh37)
Canonical SPDI:: NC_000017.11:29247352:CC:
Gene:: CRYBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.29247353_29247354del, NC_000017.10:g.27574371_27574372del, NG_008037.1:g.5497_5498del

Select item 148647160320.

rs1486471603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:29243516 (GRCh38)
17:27570534 (GRCh37)
Canonical SPDI:: NC_000017.11:29243515:T:A,NC_000017.11:29243515:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.29243516T>A, NC_000017.11:g.29243516T>C, NC_000017.10:g.27570534T>A, NC_000017.10:g.27570534T>C, NG_008037.1:g.1660T>A, NG_008037.1:g.1660T>C

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