SNP Links for Gene (Select 1419) - SNP

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Select item 14914055221.

rs1491405522 has merged into rs554918356 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:208145698 (GRCh38)
2:209010422 (GRCh37)
Canonical SPDI:: NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:208145688:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAA=0.0089/5 (NorthernSweden)
-=0.25/10 (GENOME_DK)
A=0.45787/2293 (1000Genomes)
HGVS:: NC_000002.12:g.208145698_208145711del, NC_000002.12:g.208145699_208145711del, NC_000002.12:g.208145700_208145711del, NC_000002.12:g.208145701_208145711del, NC_000002.12:g.208145702_208145711del, NC_000002.12:g.208145703_208145711del, NC_000002.12:g.208145704_208145711del, NC_000002.12:g.208145705_208145711del, NC_000002.12:g.208145706_208145711del, NC_000002.12:g.208145707_208145711del, NC_000002.12:g.208145708_208145711del, NC_000002.12:g.208145709_208145711del, NC_000002.12:g.208145710_208145711del, NC_000002.12:g.208145711del, NC_000002.12:g.208145711dup, NC_000002.12:g.208145710_208145711dup, NC_000002.12:g.208145709_208145711dup, NC_000002.12:g.208145708_208145711dup, NC_000002.12:g.208145707_208145711dup, NC_000002.12:g.208145705_208145711dup, NC_000002.12:g.208145704_208145711dup, NC_000002.12:g.208145703_208145711dup, NC_000002.12:g.208145711_208145712insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.209010422_209010435del, NC_000002.11:g.209010423_209010435del, NC_000002.11:g.209010424_209010435del, NC_000002.11:g.209010425_209010435del, NC_000002.11:g.209010426_209010435del, NC_000002.11:g.209010427_209010435del, NC_000002.11:g.209010428_209010435del, NC_000002.11:g.209010429_209010435del, NC_000002.11:g.209010430_209010435del, NC_000002.11:g.209010431_209010435del, NC_000002.11:g.209010432_209010435del, NC_000002.11:g.209010433_209010435del, NC_000002.11:g.209010434_209010435del, NC_000002.11:g.209010435del, NC_000002.11:g.209010435dup, NC_000002.11:g.209010434_209010435dup, NC_000002.11:g.209010433_209010435dup, NC_000002.11:g.209010432_209010435dup, NC_000002.11:g.209010431_209010435dup, NC_000002.11:g.209010429_209010435dup, NC_000002.11:g.209010428_209010435dup, NC_000002.11:g.209010427_209010435dup, NC_000002.11:g.209010435_209010436insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_028158.1:g.5452_5465del, NG_028158.1:g.5453_5465del, NG_028158.1:g.5454_5465del, NG_028158.1:g.5455_5465del, NG_028158.1:g.5456_5465del, NG_028158.1:g.5457_5465del, NG_028158.1:g.5458_5465del, NG_028158.1:g.5459_5465del, NG_028158.1:g.5460_5465del, NG_028158.1:g.5461_5465del, NG_028158.1:g.5462_5465del, NG_028158.1:g.5463_5465del, NG_028158.1:g.5464_5465del, NG_028158.1:g.5465del, NG_028158.1:g.5465dup, NG_028158.1:g.5464_5465dup, NG_028158.1:g.5463_5465dup, NG_028158.1:g.5462_5465dup, NG_028158.1:g.5461_5465dup, NG_028158.1:g.5459_5465dup, NG_028158.1:g.5458_5465dup, NG_028158.1:g.5457_5465dup, NG_028158.1:g.5465_5466insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913465412.

rs1491346541 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:208145688 (GRCh38)
2:209010412 (GRCh37)
Canonical SPDI:: NC_000002.12:208145687:CA:
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.208145688_208145689del, NC_000002.11:g.209010412_209010413del, NG_028158.1:g.5465_5466del

Select item 14910978703.

rs1491097870 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 2:208144388 (GRCh38)
2:209009113 (GRCh37)
Canonical SPDI:: NC_000002.12:208144388:A:AGA
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000002.12:g.208144389_208144390insGA, NC_000002.11:g.209009113_209009114insGA, NG_028158.1:g.6765_6766insCT

Select item 14908542124.

rs1490854212 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:208144550 (GRCh38)
2:209009274 (GRCh37)
Canonical SPDI:: NC_000002.12:208144549:T:C
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.208144550T>C, NC_000002.11:g.209009274T>C, NG_028158.1:g.6604A>G

Select item 14903488335.

rs1490348833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:208145708 (GRCh38)
2:209010432 (GRCh37)
Canonical SPDI:: NC_000002.12:208145707:A:G
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.208145708A>G, NC_000002.11:g.209010432A>G, NG_028158.1:g.5446T>C

Select item 14901740516.

rs1490174051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:208142656 (GRCh38)
2:209007380 (GRCh37)
Canonical SPDI:: NC_000002.12:208142655:T:C
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.208142656T>C, NC_000002.11:g.209007380T>C, NG_028158.1:g.8498A>G, NM_005210.4:c.510A>G, NM_005210.3:c.510A>G, XM_017003402.2:c.516A>G, XM_017003402.1:c.516A>G

Select item 14898430657.

rs1489843065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:208143822 (GRCh38)
2:209008546 (GRCh37)
Canonical SPDI:: NC_000002.12:208143821:T:A
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001119/5 (ALFA)
A=0.000029/4 (GnomAD)
A=0.001116/5 (Estonian)
HGVS:: NC_000002.12:g.208143822T>A, NC_000002.11:g.209008546T>A, NG_028158.1:g.7332A>T

Select item 14890705948.

rs1489070594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:208142469 (GRCh38)
2:209007193 (GRCh37)
Canonical SPDI:: NC_000002.12:208142468:T:A
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.208142469T>A, NC_000002.11:g.209007193T>A, NG_028158.1:g.8685A>T

Select item 14889087239.

rs1488908723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:208142991 (GRCh38)
2:209007715 (GRCh37)
Canonical SPDI:: NC_000002.12:208142990:C:A,NC_000002.12:208142990:C:T
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000216/4 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000893/4 (Estonian)
HGVS:: NC_000002.12:g.208142991C>A, NC_000002.12:g.208142991C>T, NC_000002.11:g.209007715C>A, NC_000002.11:g.209007715C>T, NG_028158.1:g.8163G>T, NG_028158.1:g.8163G>A

Select item 148863924210.

rs1488639242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:208146938 (GRCh38)
2:209011662 (GRCh37)
Canonical SPDI:: NC_000002.12:208146937:G:A
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
A=0.00004/2 (GnomAD)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000002.12:g.208146938G>A, NC_000002.11:g.209011662G>A, NG_028158.1:g.4216C>T

Select item 148808338811.

rs1488083388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:208146016 (GRCh38)
2:209010740 (GRCh37)
Canonical SPDI:: NC_000002.12:208146015:T:C
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208146016T>C, NC_000002.11:g.209010740T>C, NG_028158.1:g.5138A>G, NM_005210.4:c.10A>G, NM_005210.3:c.10A>G, XM_017003402.2:c.10A>G, XM_017003402.1:c.10A>G, NP_005201.2:p.Ile4Val, XP_016858891.1:p.Ile4Val

Select item 148795338612.

rs1487953386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:208144622 (GRCh38)
2:209009346 (GRCh37)
Canonical SPDI:: NC_000002.12:208144621:G:T
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.208144622G>T, NC_000002.11:g.209009346G>T, NG_028158.1:g.6532C>A

Select item 148687558413.

rs1486875584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:208148273 (GRCh38)
2:209012997 (GRCh37)
Canonical SPDI:: NC_000002.12:208148272:C:G
Gene:: LOC100507443 (Varview)
Functional Consequence:: intron_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_000002.12:g.208148273C>G, NC_000002.11:g.209012997C>G, NG_028158.1:g.2881G>C

Select item 148665972914.

rs1486659729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:208145715 (GRCh38)
2:209010439 (GRCh37)
Canonical SPDI:: NC_000002.12:208145714:T:A
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00246/11 (ALFA)
A=0.00096/27 (TOMMO)
HGVS:: NC_000002.12:g.208145715T>A, NC_000002.11:g.209010439T>A, NG_028158.1:g.5439A>T

Select item 148541505015.

rs1485415050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:208143089 (GRCh38)
2:209007813 (GRCh37)
Canonical SPDI:: NC_000002.12:208143088:G:A
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.208143089G>A, NC_000002.11:g.209007813G>A, NG_028158.1:g.8065C>T

Select item 148391540316.

rs1483915403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:208146861 (GRCh38)
2:209011585 (GRCh37)
Canonical SPDI:: NC_000002.12:208146860:G:A,NC_000002.12:208146860:G:T
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.208146861G>A, NC_000002.12:g.208146861G>T, NC_000002.11:g.209011585G>A, NC_000002.11:g.209011585G>T, NG_028158.1:g.4293C>T, NG_028158.1:g.4293C>A

Select item 148387089017.

rs1483870890 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:208143552 (GRCh38)
2:209008276 (GRCh37)
Canonical SPDI:: NC_000002.12:208143551:T:C
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00004/2 (GnomAD)
HGVS:: NC_000002.12:g.208143552T>C, NC_000002.11:g.209008276T>C, NG_028158.1:g.7602A>G

Select item 148292148618.

rs1482921486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:208147694 (GRCh38)
2:209012418 (GRCh37)
Canonical SPDI:: NC_000002.12:208147693:T:C
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_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_000002.12:g.208147694T>C, NC_000002.11:g.209012418T>C, NG_028158.1:g.3460A>G

Select item 148275121719.

rs1482751217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:208142906 (GRCh38)
2:209007630 (GRCh37)
Canonical SPDI:: NC_000002.12:208142905:C:A
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.208142906C>A, NC_000002.11:g.209007630C>A, NG_028158.1:g.8248G>T, NM_005210.4:c.260G>T, NM_005210.3:c.260G>T, XM_017003402.2:c.266G>T, XM_017003402.1:c.266G>T, NP_005201.2:p.Gly87Val, XP_016858891.1:p.Gly89Val

Select item 148254602820.

rs1482546028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:208148069 (GRCh38)
2:209012793 (GRCh37)
Canonical SPDI:: NC_000002.12:208148068:A:C,NC_000002.12:208148068:A:G
Gene:: CRYGB (Varview), LOC100507443 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.208148069A>C, NC_000002.12:g.208148069A>G, NC_000002.11:g.209012793A>C, NC_000002.11:g.209012793A>G, NG_028158.1:g.3085T>G, NG_028158.1:g.3085T>C

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