SNP Links for Gene (Select 1413) - SNP

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Select item 14915787101.

rs1491578710 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:26627419 (GRCh38)
22:27023384 (GRCh37)
Canonical SPDI:: NC_000022.11:26627419:C:CC
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000022.11:g.26627420dup, NC_000022.10:g.27023384dup, NG_009825.1:g.10457dup

Select item 14915759742.

rs1491575974 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:26627423 (GRCh38)
22:27023388 (GRCh37)
Canonical SPDI:: NC_000022.11:26627423:C:CC
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00139/128 (GnomAD)
HGVS:: NC_000022.11:g.26627424dup, NC_000022.10:g.27023388dup, NG_009825.1:g.10461dup

Select item 14915302983.

rs1491530298 has merged into rs1267622245 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT,CTCTCT [Show Flanks]
Chromosome:: 22:26627376 (GRCh38)
22:27023340 (GRCh37)
Canonical SPDI:: NC_000022.11:26627374:TCT:T,NC_000022.11:26627374:TCT:TCTCT,NC_000022.11:26627374:TCT:TCTCTCT
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
HGVS:: NC_000022.11:g.26627376_26627377del, NC_000022.11:g.26627376_26627377dup, NC_000022.11:g.26627376CT[3], NC_000022.10:g.27023340_27023341del, NC_000022.10:g.27023340_27023341dup, NC_000022.10:g.27023340CT[3], NG_009825.1:g.10413_10414del, NG_009825.1:g.10413_10414dup, NG_009825.1:g.10413CT[3]

Select item 14914982364.

rs1491498236 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 22:26627420 (GRCh38)
22:27023384 (GRCh37)
Canonical SPDI:: NC_000022.11:26627418:TCT:T,NC_000022.11:26627418:TCT:TCTCT
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
TC=0.00132/20 (TOMMO)
HGVS:: NC_000022.11:g.26627420_26627421del, NC_000022.11:g.26627420_26627421dup, NC_000022.10:g.27023384_27023385del, NC_000022.10:g.27023384_27023385dup, NG_009825.1:g.10457_10458del, NG_009825.1:g.10457_10458dup

Select item 14914847445.

rs1491484744 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTT [Show Flanks]
Chromosome:: 22:26627455 (GRCh38)
22:27023420 (GRCh37)
Canonical SPDI:: NC_000022.11:26627455:TT:TTCCTT
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TTCC=0.00062/9 (TOMMO)
TTCC=0.00098/95 (GnomAD)
TTCC=0.00175/3 (Korea1K)
HGVS:: NC_000022.11:g.26627457_26627458insCCTT, NC_000022.10:g.27023421_27023422insCCTT, NG_009825.1:g.10494_10495insCCTT

Select item 14914451556.

rs1491445155 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT [Show Flanks]
Chromosome:: 22:26627456 (GRCh38)
22:27023420 (GRCh37)
Canonical SPDI:: NC_000022.11:26627454:TTTTT:T,NC_000022.11:26627454:TTTTT:TTT
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.00016/3 (TOMMO)
HGVS:: NC_000022.11:g.26627456_26627459del, NC_000022.11:g.26627458_26627459del, NC_000022.10:g.27023420_27023423del, NC_000022.10:g.27023422_27023423del, NG_009825.1:g.10493_10496del, NG_009825.1:g.10495_10496del

Select item 14913606657.

rs1491360665 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTC [Show Flanks]
Chromosome:: 22:26627411 (GRCh38)
22:27023376 (GRCh37)
Canonical SPDI:: NC_000022.11:26627411:CTTTC:CTTTCCTTTC
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTTTCCTTTC=0./0 (ALFA)
CTTTC=0.00002/2 (GnomAD)
HGVS:: NC_000022.11:g.26627412_26627416dup, NC_000022.10:g.27023376_27023380dup, NG_009825.1:g.10449_10453dup

Select item 14913531578.

rs1491353157 has merged into rs1439547289 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 22:26627418 (GRCh38)
22:27023382 (GRCh37)
Canonical SPDI:: NC_000022.11:26627416:TTT:T,NC_000022.11:26627416:TTT:TT,NC_000022.11:26627416:TTT:TTTT,NC_000022.11:26627416:TTT:TTTTT,NC_000022.11:26627416:TTT:TTTTTTT
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.01505/9 (NorthernSweden)
HGVS:: NC_000022.11:g.26627418_26627419del, NC_000022.11:g.26627419del, NC_000022.11:g.26627419dup, NC_000022.11:g.26627418_26627419dup, NC_000022.11:g.26627419_26627420insTTTT, NC_000022.10:g.27023382_27023383del, NC_000022.10:g.27023383del, NC_000022.10:g.27023383dup, NC_000022.10:g.27023382_27023383dup, NC_000022.10:g.27023383_27023384insTTTT, NG_009825.1:g.10455_10456del, NG_009825.1:g.10456del, NG_009825.1:g.10456dup, NG_009825.1:g.10455_10456dup, NG_009825.1:g.10456_10457insTTTT

Select item 14913126709.

rs1491312670 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTATCT [Show Flanks]
Chromosome:: 22:26627412 (GRCh38)
22:27023376 (GRCh37)
Canonical SPDI:: NC_000022.11:26627410:TCT:T,NC_000022.11:26627410:TCT:TCTATCT
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTATCT=0./0 (ALFA)
-=0.00085/13 (TOMMO)
HGVS:: NC_000022.11:g.26627412_26627413del, NC_000022.11:g.26627413_26627414insATCT, NC_000022.10:g.27023376_27023377del, NC_000022.10:g.27023377_27023378insATCT, NG_009825.1:g.10449_10450del, NG_009825.1:g.10450_10451insATCT

Select item 149122515310.

rs1491225153 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 22:26627424 (GRCh38)
22:27023388 (GRCh37)
Canonical SPDI:: NC_000022.11:26627422:TCT:T,NC_000022.11:26627422:TCT:TCTCT
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
TC=0.000004/1 (TOPMED)
-=0.000022/2 (GnomAD)
HGVS:: NC_000022.11:g.26627424_26627425del, NC_000022.11:g.26627424_26627425dup, NC_000022.10:g.27023388_27023389del, NC_000022.10:g.27023388_27023389dup, NG_009825.1:g.10461_10462del, NG_009825.1:g.10461_10462dup

Select item 149118882311.

rs1491188823 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTC [Show Flanks]
Chromosome:: 22:26627375 (GRCh38)
22:27023340 (GRCh37)
Canonical SPDI:: NC_000022.11:26627375:CTTTC:CTTTCCTTTC
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTCCTTTC=0./0 (ALFA)
CTTTC=0.000004/1 (TOPMED)
CTTTC=0.000025/1 (GnomAD)
HGVS:: NC_000022.11:g.26627376_26627380dup, NC_000022.10:g.27023340_27023344dup, NG_009825.1:g.10413_10417dup

Select item 149113551812.

rs1491135518 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTC [Show Flanks]
Chromosome:: 22:26627417 (GRCh38)
22:27023382 (GRCh37)
Canonical SPDI:: NC_000022.11:26627417:TTC:TTCCTTC
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCCTTC=0.00278/33 (ALFA)
TTCC=0.00001/1 (GnomAD)
HGVS:: NC_000022.11:g.26627420_26627421insCTTC, NC_000022.10:g.27023384_27023385insCTTC, NG_009825.1:g.10457_10458insCTTC

Select item 149104486513.

rs1491044865 has merged into rs34126720 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:26607028 (GRCh38)
22:27002992 (GRCh37)
Canonical SPDI:: NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:26607019:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CRYBA4 (Varview), CRYBB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.0669/258 (ALSPAC)
-=0.0831/308 (TWINSUK)
HGVS:: NC_000022.11:g.26607028_26607040del, NC_000022.11:g.26607029_26607040del, NC_000022.11:g.26607030_26607040del, NC_000022.11:g.26607031_26607040del, NC_000022.11:g.26607033_26607040del, NC_000022.11:g.26607036_26607040del, NC_000022.11:g.26607037_26607040del, NC_000022.11:g.26607038_26607040del, NC_000022.11:g.26607039_26607040del, NC_000022.11:g.26607040del, NC_000022.11:g.26607040dup, NC_000022.11:g.26607039_26607040dup, NC_000022.11:g.26607038_26607040dup, NC_000022.11:g.26607037_26607040dup, NC_000022.11:g.26607036_26607040dup, NC_000022.11:g.26607035_26607040dup, NC_000022.11:g.26607034_26607040dup, NC_000022.11:g.26607033_26607040dup, NC_000022.10:g.27002992_27003004del, NC_000022.10:g.27002993_27003004del, NC_000022.10:g.27002994_27003004del, NC_000022.10:g.27002995_27003004del, NC_000022.10:g.27002997_27003004del, NC_000022.10:g.27003000_27003004del, NC_000022.10:g.27003001_27003004del, NC_000022.10:g.27003002_27003004del, NC_000022.10:g.27003003_27003004del, NC_000022.10:g.27003004del, NC_000022.10:g.27003004dup, NC_000022.10:g.27003003_27003004dup, NC_000022.10:g.27003002_27003004dup, NC_000022.10:g.27003001_27003004dup, NC_000022.10:g.27003000_27003004dup, NC_000022.10:g.27002999_27003004dup, NC_000022.10:g.27002998_27003004dup, NC_000022.10:g.27002997_27003004dup, NG_009826.1:g.15996_16008del, NG_009826.1:g.15997_16008del, NG_009826.1:g.15998_16008del, NG_009826.1:g.15999_16008del, NG_009826.1:g.16001_16008del, NG_009826.1:g.16004_16008del, NG_009826.1:g.16005_16008del, NG_009826.1:g.16006_16008del, NG_009826.1:g.16007_16008del, NG_009826.1:g.16008del, NG_009826.1:g.16008dup, NG_009826.1:g.16007_16008dup, NG_009826.1:g.16006_16008dup, NG_009826.1:g.16005_16008dup, NG_009826.1:g.16004_16008dup, NG_009826.1:g.16003_16008dup, NG_009826.1:g.16002_16008dup, NG_009826.1:g.16001_16008dup

Select item 149087362214.

rs1490873622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:26627258 (GRCh38)
22:27023222 (GRCh37)
Canonical SPDI:: NC_000022.11:26627257:C:A,NC_000022.11:26627257:C:G
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.26627258C>A, NC_000022.11:g.26627258C>G, NC_000022.10:g.27023222C>A, NC_000022.10:g.27023222C>G, NG_009825.1:g.10295C>A, NG_009825.1:g.10295C>G

Select item 149043721015.

rs1490437210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:26612063 (GRCh38)
22:27008027 (GRCh37)
Canonical SPDI:: NC_000022.11:26612062:A:G
Gene:: CRYBA4 (Varview), CRYBB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.26612063A>G, NC_000022.10:g.27008027A>G, NG_009826.1:g.10965T>C

Select item 149043378516.

rs1490433785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:26628810 (GRCh38)
22:27024774 (GRCh37)
Canonical SPDI:: NC_000022.11:26628809:A:C
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000026/7 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000022.11:g.26628810A>C, NC_000022.10:g.27024774A>C, NG_009825.1:g.11847A>C

Select item 149027048117.

rs1490270481 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAAAAAAAAA,AGAAAAAAAAA [Show Flanks]
Chromosome:: 22:26629747 (GRCh38)
22:27025712 (GRCh37)
Canonical SPDI:: NC_000022.11:26629747:AAAAAAAAA:AAAAAAAAAAAGAAAAAAAAA,NC_000022.11:26629747:AAAAAAAAA:AAAAAAAAAAGAAAAAAAAA
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAAAGAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000022.11:g.26629748_26629756A[11]GAAAAAAAAA[1], NC_000022.11:g.26629748_26629756A[10]GAAAAAAAAA[1], NC_000022.10:g.27025712_27025720A[11]GAAAAAAAAA[1], NC_000022.10:g.27025712_27025720A[10]GAAAAAAAAA[1], NG_009825.1:g.12785_12793A[11]GAAAAAAAAA[1], NG_009825.1:g.12785_12793A[10]GAAAAAAAAA[1]

Select item 149016750718.

rs1490167507 has merged into rs1200163406 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 22:26627422 (GRCh38)
22:27023386 (GRCh37)
Canonical SPDI:: NC_000022.11:26627420:TTT:T,NC_000022.11:26627420:TTT:TT,NC_000022.11:26627420:TTT:TTTT,NC_000022.11:26627420:TTT:TTTTT
Gene:: CRYBA4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.26627422_26627423del, NC_000022.11:g.26627423del, NC_000022.11:g.26627423dup, NC_000022.11:g.26627422_26627423dup, NC_000022.10:g.27023386_27023387del, NC_000022.10:g.27023387del, NC_000022.10:g.27023387dup, NC_000022.10:g.27023386_27023387dup, NG_009825.1:g.10459_10460del, NG_009825.1:g.10460del, NG_009825.1:g.10460dup, NG_009825.1:g.10459_10460dup

Select item 148982881519.

rs1489828815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:26619399 (GRCh38)
22:27015363 (GRCh37)
Canonical SPDI:: NC_000022.11:26619398:T:C
Gene:: CRYBA4 (Varview), CRYBB1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_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_000022.11:g.26619399T>C, NC_000022.10:g.27015363T>C, NG_009826.1:g.3629A>G, NG_009825.1:g.2436T>C

Select item 148982605520.

rs1489826055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:26613043 (GRCh38)
22:27009007 (GRCh37)
Canonical SPDI:: NC_000022.11:26613042:C:T
Gene:: CRYBA4 (Varview), CRYBB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.26613043C>T, NC_000022.10:g.27009007C>T, NG_009826.1:g.9985G>A

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