SNP Links for Protein (Select 10518338) - SNP

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Links from Protein

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Select item 14900365511.

rs1490036551 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:208128438 (GRCh38)
2:208993162 (GRCh37)
Canonical SPDI:: NC_000002.12:208128437:T:G
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208128438T>G, NC_000002.11:g.208993162T>G, NG_008039.1:g.1152A>C, NG_008038.1:g.6393A>C, NM_020989.4:c.290A>C, NM_020989.3:c.290A>C, NW_018654710.1:g.126732T>G, NP_066269.1:p.Asp97Ala

Select item 14754644402.

rs1475464440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:208128215 (GRCh38)
2:208992939 (GRCh37)
Canonical SPDI:: NC_000002.12:208128214:C:T
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.208128215C>T, NC_000002.11:g.208992939C>T, NG_008039.1:g.1375G>A, NG_008038.1:g.6616G>A, NM_020989.4:c.513G>A, NM_020989.3:c.513G>A, NW_018654710.1:g.126509C>T

Select item 14746138253.

rs1474613825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:208129654 (GRCh38)
2:208994378 (GRCh37)
Canonical SPDI:: NC_000002.12:208129653:C:T
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208129654C>T, NC_000002.11:g.208994378C>T, NG_008038.1:g.5177G>A, NM_020989.4:c.39G>A, NM_020989.3:c.39G>A, NW_018654710.1:g.127948C>T

Select item 14697412824.

rs1469741282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:208129518 (GRCh38)
2:208994242 (GRCh37)
Canonical SPDI:: NC_000002.12:208129517:G:A
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
A=0.000212/4 (TOMMO)
HGVS:: NC_000002.12:g.208129518G>A, NC_000002.11:g.208994242G>A, NG_008039.1:g.72C>T, NG_008038.1:g.5313C>T, NM_020989.4:c.175C>T, NM_020989.3:c.175C>T, NW_018654710.1:g.127812G>A, NP_066269.1:p.Arg59Trp

Select item 14663300035.

rs1466330003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:208128393 (GRCh38)
2:208993117 (GRCh37)
Canonical SPDI:: NC_000002.12:208128392:A:G
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208128393A>G, NC_000002.11:g.208993117A>G, NG_008039.1:g.1197T>C, NG_008038.1:g.6438T>C, NM_020989.4:c.335T>C, NM_020989.3:c.335T>C, NW_018654710.1:g.126687A>G, NP_066269.1:p.Ile112Thr

Select item 14620302446.

rs1462030244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:208128367 (GRCh38)
2:208993091 (GRCh37)
Canonical SPDI:: NC_000002.12:208128366:T:A
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208128367T>A, NC_000002.11:g.208993091T>A, NG_008039.1:g.1223A>T, NG_008038.1:g.6464A>T, NM_020989.4:c.361A>T, NM_020989.3:c.361A>T, NW_018654710.1:g.126661T>A, NP_066269.1:p.Ile121Phe

Select item 14500789987.

rs1450078998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:208129483 (GRCh38)
2:208994207 (GRCh37)
Canonical SPDI:: NC_000002.12:208129482:C:T
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208129483C>T, NC_000002.11:g.208994207C>T, NG_008039.1:g.107G>A, NG_008038.1:g.5348G>A, NM_020989.4:c.210G>A, NM_020989.3:c.210G>A, NW_018654710.1:g.127777C>T, NP_066269.1:p.Met70Ile

Select item 14443685528.

rs1444368552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:208128247 (GRCh38)
2:208992971 (GRCh37)
Canonical SPDI:: NC_000002.12:208128246:C:G
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208128247C>G, NC_000002.11:g.208992971C>G, NG_008039.1:g.1343G>C, NG_008038.1:g.6584G>C, NM_020989.4:c.481G>C, NM_020989.3:c.481G>C, NW_018654710.1:g.126541C>G, NP_066269.1:p.Asp161His

Select item 14437329049.

rs1443732904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:208129789 (GRCh38)
2:208994513 (GRCh37)
Canonical SPDI:: NC_000002.12:208129788:C:T
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208129789C>T, NC_000002.11:g.208994513C>T, NG_008038.1:g.5042G>A, NM_020989.4:c.4G>A, NM_020989.3:c.4G>A, NW_018654710.1:g.128083C>T, NP_066269.1:p.Gly2Arg

Select item 143746475110.

rs1437464751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:208129558 (GRCh38)
2:208994282 (GRCh37)
Canonical SPDI:: NC_000002.12:208129557:G:C
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208129558G>C, NC_000002.11:g.208994282G>C, NG_008039.1:g.32C>G, NG_008038.1:g.5273C>G, NM_020989.4:c.135C>G, NM_020989.3:c.135C>G, NW_018654710.1:g.127852G>C

Select item 143699019911.

rs1436990199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:208128237 (GRCh38)
2:208992961 (GRCh37)
Canonical SPDI:: NC_000002.12:208128236:G:A
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.208128237G>A, NC_000002.11:g.208992961G>A, NG_008039.1:g.1353C>T, NG_008038.1:g.6594C>T, NM_020989.4:c.491C>T, NM_020989.3:c.491C>T, NW_018654710.1:g.126531G>A, NP_066269.1:p.Ala164Val

Select item 142648804712.

rs1426488047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:208129592 (GRCh38)
2:208994316 (GRCh37)
Canonical SPDI:: NC_000002.12:208129591:T:G
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.208129592T>G, NC_000002.11:g.208994316T>G, NG_008038.1:g.5239A>C, NM_020989.4:c.101A>C, NM_020989.3:c.101A>C, NW_018654710.1:g.127886T>G, NP_066269.1:p.Asn34Thr

Select item 142610807313.

rs1426108073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:208128256 (GRCh38)
2:208992980 (GRCh37)
Canonical SPDI:: NC_000002.12:208128255:C:A
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208128256C>A, NC_000002.11:g.208992980C>A, NG_008039.1:g.1334G>T, NG_008038.1:g.6575G>T, NM_020989.4:c.472G>T, NM_020989.3:c.472G>T, NW_018654710.1:g.126550C>A, NP_066269.1:p.Gly158Trp

Select item 141568329014.

rs1415683290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:208129510 (GRCh38)
2:208994234 (GRCh37)
Canonical SPDI:: NC_000002.12:208129509:C:T
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.208129510C>T, NC_000002.11:g.208994234C>T, NG_008039.1:g.80G>A, NG_008038.1:g.5321G>A, NM_020989.4:c.183G>A, NM_020989.3:c.183G>A, NW_018654710.1:g.127804C>T

Select item 140808663615.

rs1408086636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:208128390 (GRCh38)
2:208993114 (GRCh37)
Canonical SPDI:: NC_000002.12:208128389:T:G
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208128390T>G, NC_000002.11:g.208993114T>G, NG_008039.1:g.1200A>C, NG_008038.1:g.6441A>C, NM_020989.4:c.338A>C, NM_020989.3:c.338A>C, NW_018654710.1:g.126684T>G, NP_066269.1:p.Gln113Pro

Select item 140706487316.

rs1407064873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:208129671 (GRCh38)
2:208994395 (GRCh37)
Canonical SPDI:: NC_000002.12:208129670:C:T
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.208129671C>T, NC_000002.11:g.208994395C>T, NG_008038.1:g.5160G>A, NM_020989.4:c.22G>A, NM_020989.3:c.22G>A, NW_018654710.1:g.127965C>T, NP_066269.1:p.Glu8Lys

Select item 140430596117.

rs1404305961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:208129479 (GRCh38)
2:208994203 (GRCh37)
Canonical SPDI:: NC_000002.12:208129478:G:C
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.208129479G>C, NC_000002.11:g.208994203G>C, NG_008039.1:g.111C>G, NG_008038.1:g.5352C>G, NM_020989.4:c.214C>G, NM_020989.3:c.214C>G, NW_018654710.1:g.127773G>C, NP_066269.1:p.Leu72Val

Select item 139462700918.

rs1394627009 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:208128399 (GRCh38)
2:208993123 (GRCh37)
Canonical SPDI:: NC_000002.12:208128398:G:A,NC_000002.12:208128398:G:C
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.208128399G>A, NC_000002.12:g.208128399G>C, NC_000002.11:g.208993123G>A, NC_000002.11:g.208993123G>C, NG_008039.1:g.1191C>T, NG_008039.1:g.1191C>G, NG_008038.1:g.6432C>T, NG_008038.1:g.6432C>G, NM_020989.4:c.329C>T, NM_020989.4:c.329C>G, NM_020989.3:c.329C>T, NM_020989.3:c.329C>G, NW_018654710.1:g.126693G>A, NW_018654710.1:g.126693G>C, NP_066269.1:p.Pro110Leu, NP_066269.1:p.Pro110Arg

Select item 139414133319.

rs1394141333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:208129606 (GRCh38)
2:208994330 (GRCh37)
Canonical SPDI:: NC_000002.12:208129605:A:G
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.208129606A>G, NC_000002.11:g.208994330A>G, NG_008038.1:g.5225T>C, NM_020989.4:c.87T>C, NM_020989.3:c.87T>C, NW_018654710.1:g.127900A>G

Select item 139013235220.

rs1390132352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:208128273 (GRCh38)
2:208992997 (GRCh37)
Canonical SPDI:: NC_000002.12:208128272:C:T
Gene:: CRYGC (Varview), LOC100507443 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.208128273C>T, NC_000002.11:g.208992997C>T, NG_008039.1:g.1317G>A, NG_008038.1:g.6558G>A, NM_020989.4:c.455G>A, NM_020989.3:c.455G>A, NW_018654710.1:g.126567C>T, NP_066269.1:p.Arg152Lys

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