SNP Links for Nucleotide (Select 971460885) - SNP

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Links from Nucleotide

Items: 1 to 20 of 94

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Select item 14832270301.

rs1483227030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:106451812 (GRCh38)
6:106899687 (GRCh37)
Canonical SPDI:: NC_000006.12:106451811:G:A
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106451812G>A, NC_000006.11:g.106899687G>A, NM_001371242.2:c.292G>A, NM_001371242.1:c.292G>A, XM_047418270.1:c.370G>A, NR_134603.1:n.99C>T, NP_001358171.1:p.Glu98Lys, XP_047274226.1:p.Glu124Lys

Select item 14828185602.

rs1482818560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106451703 (GRCh38)
6:106899578 (GRCh37)
Canonical SPDI:: NC_000006.12:106451702:T:C
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106451703T>C, NC_000006.11:g.106899578T>C, NM_001371242.2:c.183T>C, NM_001371242.1:c.183T>C, XM_047418270.1:c.261T>C, NR_134603.1:n.208A>G

Select item 14820542143.

rs1482054214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:106451509 (GRCh38)
6:106899384 (GRCh37)
Canonical SPDI:: NC_000006.12:106451508:G:A,NC_000006.12:106451508:G:T
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000006.12:g.106451509G>A, NC_000006.12:g.106451509G>T, NC_000006.11:g.106899384G>A, NC_000006.11:g.106899384G>T, NR_134603.1:n.402C>T, NR_134603.1:n.402C>A

Select item 14711315614.

rs1471131561 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106451555 (GRCh38)
6:106899430 (GRCh37)
Canonical SPDI:: NC_000006.12:106451554:C:T
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000006.12:g.106451555C>T, NC_000006.11:g.106899430C>T, NR_134603.1:n.356G>A

Select item 14694217615.

rs1469421761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:106451499 (GRCh38)
6:106899374 (GRCh37)
Canonical SPDI:: NC_000006.12:106451498:A:C
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.106451499A>C, NC_000006.11:g.106899374A>C, NR_134603.1:n.412T>G

Select item 14596591276.

rs1459659127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106451549 (GRCh38)
6:106899424 (GRCh37)
Canonical SPDI:: NC_000006.12:106451548:C:T
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.106451549C>T, NC_000006.11:g.106899424C>T, NR_134603.1:n.362G>A

Select item 14590469517.

rs1459046951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:106457164 (GRCh38)
6:106905039 (GRCh37)
Canonical SPDI:: NC_000006.12:106457163:G:A,NC_000006.12:106457163:G:T
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.106457164G>A, NC_000006.12:g.106457164G>T, NC_000006.11:g.106905039G>A, NC_000006.11:g.106905039G>T, NR_134603.1:n.85C>T, NR_134603.1:n.85C>A

Select item 14523548018.

rs1452354801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:106451575 (GRCh38)
6:106899450 (GRCh37)
Canonical SPDI:: NC_000006.12:106451574:A:T
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_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_000006.12:g.106451575A>T, NC_000006.11:g.106899450A>T, NR_134603.1:n.336T>A

Select item 14362338429.

rs1436233842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:106457201 (GRCh38)
6:106905076 (GRCh37)
Canonical SPDI:: NC_000006.12:106457200:C:A,NC_000006.12:106457200:C:G
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.106457201C>A, NC_000006.12:g.106457201C>G, NC_000006.11:g.106905076C>A, NC_000006.11:g.106905076C>G, NR_134603.1:n.48G>T, NR_134603.1:n.48G>C

Select item 143148353710.

rs1431483537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106451610 (GRCh38)
6:106899485 (GRCh37)
Canonical SPDI:: NC_000006.12:106451609:C:T
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000006.12:g.106451610C>T, NC_000006.11:g.106899485C>T, NR_134603.1:n.301G>A

Select item 142887307311.

rs1428873073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:106451648 (GRCh38)
6:106899523 (GRCh37)
Canonical SPDI:: NC_000006.12:106451647:C:G,NC_000006.12:106451647:C:T
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00016/1 (1000Genomes)
G=0.00068/2 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.106451648C>G, NC_000006.12:g.106451648C>T, NC_000006.11:g.106899523C>G, NC_000006.11:g.106899523C>T, NR_134603.1:n.263G>C, NR_134603.1:n.263G>A

Select item 141450454012.

rs1414504540 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:106451664 (GRCh38)
6:106899539 (GRCh37)
Canonical SPDI:: NC_000006.12:106451663:T:A,NC_000006.12:106451663:T:C
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.106451664T>A, NC_000006.12:g.106451664T>C, NC_000006.11:g.106899539T>A, NC_000006.11:g.106899539T>C, NR_134603.1:n.247A>T, NR_134603.1:n.247A>G

Select item 141098866613.

rs1410988666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:106451768 (GRCh38)
6:106899643 (GRCh37)
Canonical SPDI:: NC_000006.12:106451767:A:C,NC_000006.12:106451767:A:G
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/1 (GnomAD_exomes)
C=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.106451768A>C, NC_000006.12:g.106451768A>G, NC_000006.11:g.106899643A>C, NC_000006.11:g.106899643A>G, NM_001371242.2:c.248A>C, NM_001371242.2:c.248A>G, NM_001371242.1:c.248A>C, NM_001371242.1:c.248A>G, XM_047418270.1:c.326A>C, XM_047418270.1:c.326A>G, NR_134603.1:n.143T>G, NR_134603.1:n.143T>C, NP_001358171.1:p.Gln83Pro, NP_001358171.1:p.Gln83Arg, XP_047274226.1:p.Gln109Pro, XP_047274226.1:p.Gln109Arg

Select item 140736748814.

rs1407367488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106451728 (GRCh38)
6:106899603 (GRCh37)
Canonical SPDI:: NC_000006.12:106451727:C:T
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/1 (GnomAD_exomes)
T=0.000036/5 (GnomAD)
T=0.000053/14 (TOPMED)
HGVS:: NC_000006.12:g.106451728C>T, NC_000006.11:g.106899603C>T, NM_001371242.2:c.208C>T, NM_001371242.1:c.208C>T, XM_047418270.1:c.286C>T, NR_134603.1:n.183G>A, NP_001358171.1:p.Arg70Ter, XP_047274226.1:p.Arg96Ter

Select item 139122828215.

rs1391228282 [Homo sapiens]

Variant type:: DEL
Alleles:: AAGTCA>- [Show Flanks]
Chromosome:: 6:106451498 (GRCh38)
6:106899373 (GRCh37)
Canonical SPDI:: NC_000006.12:106451497:AAGTCA:
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.106451498_106451503del, NC_000006.11:g.106899373_106899378del, NR_134603.1:n.408_413del

Select item 139057709816.

rs1390577098 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:106451611 (GRCh38)
6:106899486 (GRCh37)
Canonical SPDI:: NC_000006.12:106451610:A:C,NC_000006.12:106451610:A:G
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.106451611A>C, NC_000006.12:g.106451611A>G, NC_000006.11:g.106899486A>C, NC_000006.11:g.106899486A>G, NR_134603.1:n.300T>G, NR_134603.1:n.300T>C

Select item 138093694617.

rs1380936946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:106451580 (GRCh38)
6:106899455 (GRCh37)
Canonical SPDI:: NC_000006.12:106451579:T:G
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.106451580T>G, NC_000006.11:g.106899455T>G, NR_134603.1:n.331A>C

Select item 137985968818.

rs1379859688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:106457241 (GRCh38)
6:106905116 (GRCh37)
Canonical SPDI:: NC_000006.12:106457240:G:A
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.106457241G>A, NC_000006.11:g.106905116G>A, NR_134603.1:n.8C>T

Select item 136780010919.

rs1367800109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:106451561 (GRCh38)
6:106899436 (GRCh37)
Canonical SPDI:: NC_000006.12:106451560:G:C
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.106451561G>C, NC_000006.11:g.106899436G>C, NR_134603.1:n.350C>G

Select item 135395815220.

rs1353958152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:106451602 (GRCh38)
6:106899477 (GRCh37)
Canonical SPDI:: NC_000006.12:106451601:T:C
Gene:: CRYBG1 (Varview), LOC105377924 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,non_coding_transcript_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_000006.12:g.106451602T>C, NC_000006.11:g.106899477T>C, NR_134603.1:n.309A>G