SNP Links for Gene (Select 1416) - SNP

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Select item 14915572171.

rs1491557217 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 22:25456775 (GRCh38)
22:25852742 (GRCh37)
Canonical SPDI:: NC_000022.11:25456768:TGTGTGTG:TGTGTG
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTG=0./0 (ALFA)
-=0.000052/7 (GnomAD)
HGVS:: NC_000022.11:g.25456769TG[3], NC_000022.10:g.25852736TG[3]

Select item 14914857872.

rs1491485787 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:25456828 (GRCh38)
22:25852795 (GRCh37)
Canonical SPDI:: NC_000022.11:25456827:AT:
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.25456828_25456829del, NC_000022.10:g.25852795_25852796del

Select item 14913794893.

rs1491379489 has merged into rs1555908688 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCG,CGCGCG [Show Flanks]
Chromosome:: 22:25459743 (GRCh38)
22:25855710 (GRCh37)
Canonical SPDI:: NC_000022.11:25459741:GCG:G,NC_000022.11:25459741:GCG:GCGCG,NC_000022.11:25459741:GCG:GCGCGCG
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCG=0.00113/17 (ALFA)
HGVS:: NC_000022.11:g.25459743_25459744del, NC_000022.11:g.25459743_25459744dup, NC_000022.11:g.25459743CG[3], NC_000022.10:g.25855710_25855711del, NC_000022.10:g.25855710_25855711dup, NC_000022.10:g.25855710CG[3]

Select item 14913499024.

rs1491349902 has merged into rs532765151 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 22:25456836 (GRCh38)
22:25852803 (GRCh37)
Canonical SPDI:: NC_000022.11:25456828:TGTGTGTGT:TGTGTGT,NC_000022.11:25456828:TGTGTGTGT:TGTGTGTGTGT
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0.00525/85 (ALFA)
-=0.00559/28 (1000Genomes)
-=0.02667/16 (NorthernSweden)
HGVS:: NC_000022.11:g.25456830GT[3], NC_000022.11:g.25456830GT[5], NC_000022.10:g.25852797GT[3], NC_000022.10:g.25852797GT[5]

Select item 14912449655.

rs1491244965 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 22:25456779 (GRCh38)
22:25852746 (GRCh37)
Canonical SPDI:: NC_000022.11:25456778:CG:
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000022.11:g.25456779_25456780del, NC_000022.10:g.25852746_25852747del

Select item 14912317336.

rs1491231733 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 22:25459716 (GRCh38)
22:25855684 (GRCh37)
Canonical SPDI:: NC_000022.11:25459716:T:TAT
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TA=0.00009/2 (GnomAD)
HGVS:: NC_000022.11:g.25459717_25459718insAT, NC_000022.10:g.25855684_25855685insAT

Select item 14912158757.

rs1491215875 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTGC [Show Flanks]
Chromosome:: 22:25456769 (GRCh38)
22:25852737 (GRCh37)
Canonical SPDI:: NC_000022.11:25456769:GTGTGTGC:GTGTGTGCGTGTGTGC
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGCGTGTGTGC=0.000506/6 (ALFA)
GTGTGTGC=0.004603/628 (GnomAD)
HGVS:: NC_000022.11:g.25456770_25456777dup, NC_000022.10:g.25852737_25852744dup

Select item 14912103448.

rs1491210344 has merged into rs71322752 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 22:25459719 (GRCh38)
22:25855686 (GRCh37)
Canonical SPDI:: NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000022.11:25459715:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.25459717TG[1], NC_000022.11:g.25459717TG[6], NC_000022.11:g.25459717TG[7], NC_000022.11:g.25459717TG[8], NC_000022.11:g.25459717TG[9], NC_000022.11:g.25459717TG[10], NC_000022.11:g.25459717TG[11], NC_000022.11:g.25459717TG[12], NC_000022.11:g.25459717TG[14], NC_000022.11:g.25459717TG[15], NC_000022.11:g.25459717TG[16], NC_000022.11:g.25459717TG[17], NC_000022.11:g.25459717TG[18], NC_000022.11:g.25459717TG[19], NC_000022.11:g.25459717TG[20], NC_000022.11:g.25459717TG[21], NC_000022.11:g.25459717TG[22], NC_000022.10:g.25855684TG[1], NC_000022.10:g.25855684TG[6], NC_000022.10:g.25855684TG[7], NC_000022.10:g.25855684TG[8], NC_000022.10:g.25855684TG[9], NC_000022.10:g.25855684TG[10], NC_000022.10:g.25855684TG[11], NC_000022.10:g.25855684TG[12], NC_000022.10:g.25855684TG[14], NC_000022.10:g.25855684TG[15], NC_000022.10:g.25855684TG[16], NC_000022.10:g.25855684TG[17], NC_000022.10:g.25855684TG[18], NC_000022.10:g.25855684TG[19], NC_000022.10:g.25855684TG[20], NC_000022.10:g.25855684TG[21], NC_000022.10:g.25855684TG[22]

Select item 14911895239.

rs1491189523 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 22:25459747 (GRCh38)
22:25855714 (GRCh37)
Canonical SPDI:: NC_000022.11:25459745:GCG:G
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000035/1 (TOMMO)
-=0.005084/665 (GnomAD)
-=0.006667/4 (NorthernSweden)
-=0.011057/41 (TWINSUK)
-=0.016606/64 (ALSPAC)
HGVS:: NC_000022.11:g.25459747_25459748del, NC_000022.10:g.25855714_25855715del

Select item 149106469510.

rs1491064695 has merged into rs869059284 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 22:25447224 (GRCh38)
22:25843191 (GRCh37)
Canonical SPDI:: NC_000022.11:25447223:CC:
Gene:: CRYBB2P1 (Varview), LOC124905093 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.25447224_25447225del, NC_000022.10:g.25843191_25843192del

Select item 149103930211.

rs1491039302 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: 22:25456789 (GRCh38)
22:25852757 (GRCh37)
Canonical SPDI:: NC_000022.11:25456789:GC:GCGC
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGC=0.000084/1 (ALFA)
GC=0.000035/1 (TOMMO)
GC=0.000043/6 (GnomAD)
HGVS:: NC_000022.11:g.25456790_25456791dup, NC_000022.10:g.25852757_25852758dup

Select item 149102969112.

rs1491029691 has merged into rs113892686 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 22:25449532 (GRCh38)
22:25845499 (GRCh37)
Canonical SPDI:: NC_000022.11:25449520:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:25449520:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:25449520:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:25449520:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:25449520:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:25449520:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: CRYBB2P1 (Varview), LOC124905093 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.06689/40 (NorthernSweden)
T=0.25/10 (GENOME_DK)
T=0.26158/1310 (1000Genomes)
HGVS:: NC_000022.11:g.25449532_25449534del, NC_000022.11:g.25449533_25449534del, NC_000022.11:g.25449534del, NC_000022.11:g.25449534dup, NC_000022.11:g.25449533_25449534dup, NC_000022.11:g.25449532_25449534dup, NC_000022.10:g.25845499_25845501del, NC_000022.10:g.25845500_25845501del, NC_000022.10:g.25845501del, NC_000022.10:g.25845501dup, NC_000022.10:g.25845500_25845501dup, NC_000022.10:g.25845499_25845501dup

Select item 149102410813.

rs1491024108 has merged into rs57831222 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA [Show Flanks]
Chromosome:: 22:25446862 (GRCh38)
22:25842829 (GRCh37)
Canonical SPDI:: NC_000022.11:25446852:AGAGAGAGAGAGAGAGA:AGAGAGAGA,NC_000022.11:25446852:AGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000022.11:25446852:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000022.11:25446852:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000022.11:25446852:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000022.11:25446852:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
Gene:: CRYBB2P1 (Varview), LOC124905093 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
-=0.00765/14 (Korea1K)
-=0.43086/430 (GoNL)
HGVS:: NC_000022.11:g.25446854GA[4], NC_000022.11:g.25446854GA[5], NC_000022.11:g.25446854GA[6], NC_000022.11:g.25446854GA[7], NC_000022.11:g.25446854GA[9], NC_000022.11:g.25446854GA[10], NC_000022.10:g.25842821GA[4], NC_000022.10:g.25842821GA[5], NC_000022.10:g.25842821GA[6], NC_000022.10:g.25842821GA[7], NC_000022.10:g.25842821GA[9], NC_000022.10:g.25842821GA[10]

Select item 149065618914.

rs1490656189 has merged into rs142621937 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:25450422 (GRCh38)
22:25846389 (GRCh37)
Canonical SPDI:: NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:25450409:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000022.11:g.25450422_25450438del, NC_000022.11:g.25450423_25450438del, NC_000022.11:g.25450424_25450438del, NC_000022.11:g.25450425_25450438del, NC_000022.11:g.25450426_25450438del, NC_000022.11:g.25450427_25450438del, NC_000022.11:g.25450428_25450438del, NC_000022.11:g.25450429_25450438del, NC_000022.11:g.25450430_25450438del, NC_000022.11:g.25450431_25450438del, NC_000022.11:g.25450432_25450438del, NC_000022.11:g.25450433_25450438del, NC_000022.11:g.25450434_25450438del, NC_000022.11:g.25450435_25450438del, NC_000022.11:g.25450436_25450438del, NC_000022.11:g.25450437_25450438del, NC_000022.11:g.25450438del, NC_000022.11:g.25450438dup, NC_000022.11:g.25450437_25450438dup, NC_000022.11:g.25450435_25450438dup, NC_000022.11:g.25450427_25450438dup, NC_000022.11:g.25450415_25450438dup, NC_000022.11:g.25450438_25450439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.25450438_25450439insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25846389_25846405del, NC_000022.10:g.25846390_25846405del, NC_000022.10:g.25846391_25846405del, NC_000022.10:g.25846392_25846405del, NC_000022.10:g.25846393_25846405del, NC_000022.10:g.25846394_25846405del, NC_000022.10:g.25846395_25846405del, NC_000022.10:g.25846396_25846405del, NC_000022.10:g.25846397_25846405del, NC_000022.10:g.25846398_25846405del, NC_000022.10:g.25846399_25846405del, NC_000022.10:g.25846400_25846405del, NC_000022.10:g.25846401_25846405del, NC_000022.10:g.25846402_25846405del, NC_000022.10:g.25846403_25846405del, NC_000022.10:g.25846404_25846405del, NC_000022.10:g.25846405del, NC_000022.10:g.25846405dup, NC_000022.10:g.25846404_25846405dup, NC_000022.10:g.25846402_25846405dup, NC_000022.10:g.25846394_25846405dup, NC_000022.10:g.25846382_25846405dup, NC_000022.10:g.25846405_25846406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.25846405_25846406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149039243615.

rs1490392436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:25456916 (GRCh38)
22:25852883 (GRCh37)
Canonical SPDI:: NC_000022.11:25456915:G:A
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.25456916G>A, NC_000022.10:g.25852883G>A

Select item 149014458916.

rs1490144589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 22:25459832 (GRCh38)
22:25855799 (GRCh37)
Canonical SPDI:: NC_000022.11:25459831:G:C,NC_000022.11:25459831:G:T
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.25459832G>C, NC_000022.11:g.25459832G>T, NC_000022.10:g.25855799G>C, NC_000022.10:g.25855799G>T

Select item 149011952117.

rs1490119521 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACTT>- [Show Flanks]
Chromosome:: 22:25457979 (GRCh38)
22:25853946 (GRCh37)
Canonical SPDI:: NC_000022.11:25457977:TGACTT:T
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00244/29 (ALFA)
HGVS:: NC_000022.11:g.25457979_25457983del, NC_000022.10:g.25853946_25853950del

Select item 148997748218.

rs1489977482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:25459151 (GRCh38)
22:25855118 (GRCh37)
Canonical SPDI:: NC_000022.11:25459150:G:A
Gene:: CRYBB2P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.25459151G>A, NC_000022.10:g.25855118G>A

Select item 148962232419.

rs1489622324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 22:25448057 (GRCh38)
22:25844024 (GRCh37)
Canonical SPDI:: NC_000022.11:25448056:A:G,NC_000022.11:25448056:A:T
Gene:: CRYBB2P1 (Varview), LOC124905093 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000022.11:g.25448057A>G, NC_000022.11:g.25448057A>T, NC_000022.10:g.25844024A>G, NC_000022.10:g.25844024A>T

Select item 148957168020.

rs1489571680 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:25446306 (GRCh38)
22:25842273 (GRCh37)
Canonical SPDI:: NC_000022.11:25446305:G:A
Gene:: CRYBB2P1 (Varview), LOC124905093 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.25446306G>A, NC_000022.10:g.25842273G>A

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