SNP Links for Protein (Select 4503055) - SNP

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Links from Protein

Items: 1 to 20 of 197

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Select item 14848806611.

rs1484880661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:43170602 (GRCh38)
21:44590712 (GRCh37)
Canonical SPDI:: NC_000021.9:43170601:A:G
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43170602A>G, NC_000021.8:g.44590712A>G, NG_009823.1:g.6572A>G, NM_000394.4:c.275A>G, NM_000394.3:c.275A>G, NM_000394.2:c.275A>G, NM_001363766.1:c.164A>G, NP_000385.1:p.Asp92Gly, NP_001350695.1:p.Asp55Gly

Select item 14848488562.

rs1484848856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43169171 (GRCh38)
21:44589281 (GRCh37)
Canonical SPDI:: NC_000021.9:43169170:C:T
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43169171C>T, NC_000021.8:g.44589281C>T, NG_009823.1:g.5141C>T, NM_000394.4:c.72C>T, NM_000394.3:c.72C>T, NM_000394.2:c.72C>T

Select item 14754385023.

rs1475438502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:43172112 (GRCh38)
21:44592222 (GRCh37)
Canonical SPDI:: NC_000021.9:43172111:C:A
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43172112C>A, NC_000021.8:g.44592222C>A, NG_009823.1:g.8082C>A, NM_000394.4:c.354C>A, NM_000394.3:c.354C>A, NM_000394.2:c.354C>A, NM_001363766.1:c.243C>A, NP_000385.1:p.Tyr118Ter, NP_001350695.1:p.Tyr81Ter

Select item 14716679424.

rs1471667942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43172172 (GRCh38)
21:44592282 (GRCh37)
Canonical SPDI:: NC_000021.9:43172171:G:A
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000021.9:g.43172172G>A, NC_000021.8:g.44592282G>A, NG_009823.1:g.8142G>A, NM_000394.4:c.414G>A, NM_000394.3:c.414G>A, NM_000394.2:c.414G>A, NM_001363766.1:c.303G>A, NP_000385.1:p.Met138Ile, NP_001350695.1:p.Met101Ile

Select item 14668909455.

rs1466890945 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 21:43169234 (GRCh38)
21:44589344 (GRCh37)
Canonical SPDI:: NC_000021.9:43169233:CCCC:CCC
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CCC=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.43169237del, NC_000021.8:g.44589347del, NG_009823.1:g.5207del, NM_000394.4:c.138del, NM_000394.3:c.138del, NM_000394.2:c.138del, NP_000385.1:p.Tyr47fs

Select item 14535888176.

rs1453588817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:43172201 (GRCh38)
21:44592311 (GRCh37)
Canonical SPDI:: NC_000021.9:43172200:C:A
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43172201C>A, NC_000021.8:g.44592311C>A, NG_009823.1:g.8171C>A, NM_000394.4:c.443C>A, NM_000394.3:c.443C>A, NM_000394.2:c.443C>A, NM_001363766.1:c.332C>A, NP_000385.1:p.Thr148Asn, NP_001350695.1:p.Thr111Asn

Select item 14441779117.

rs1444177911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43170615 (GRCh38)
21:44590725 (GRCh37)
Canonical SPDI:: NC_000021.9:43170614:C:T
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43170615C>T, NC_000021.8:g.44590725C>T, NG_009823.1:g.6585C>T, NM_000394.4:c.288C>T, NM_000394.3:c.288C>T, NM_000394.2:c.288C>T, NM_001363766.1:c.177C>T

Select item 14320483058.

rs1432048305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:43170548 (GRCh38)
21:44590658 (GRCh37)
Canonical SPDI:: NC_000021.9:43170547:T:G
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43170548T>G, NC_000021.8:g.44590658T>G, NG_009823.1:g.6518T>G, NM_000394.4:c.221T>G, NM_000394.3:c.221T>G, NM_000394.2:c.221T>G, NM_001363766.1:c.110T>G, NP_000385.1:p.Phe74Cys, NP_001350695.1:p.Phe37Cys

Select item 14268478229.

rs1426847822 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43170534 (GRCh38)
21:44590644 (GRCh37)
Canonical SPDI:: NC_000021.9:43170533:C:T
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43170534C>T, NC_000021.8:g.44590644C>T, NG_009823.1:g.6504C>T, NM_000394.4:c.207C>T, NM_000394.3:c.207C>T, NM_000394.2:c.207C>T, NM_001363766.1:c.96C>T

Select item 142670850010.

rs1426708500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43169123 (GRCh38)
21:44589233 (GRCh37)
Canonical SPDI:: NC_000021.9:43169122:C:T
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43169123C>T, NC_000021.8:g.44589233C>T, NG_009823.1:g.5093C>T, NM_000394.4:c.24C>T, NM_000394.3:c.24C>T, NM_000394.2:c.24C>T

Select item 142623919511.

rs1426239195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43172115 (GRCh38)
21:44592225 (GRCh37)
Canonical SPDI:: NC_000021.9:43172114:C:T
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43172115C>T, NC_000021.8:g.44592225C>T, NG_009823.1:g.8085C>T, NM_000394.4:c.357C>T, NM_000394.3:c.357C>T, NM_000394.2:c.357C>T, NM_001363766.1:c.246C>T

Select item 142279269912.

rs1422792699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:43169116 (GRCh38)
21:44589226 (GRCh37)
Canonical SPDI:: NC_000021.9:43169115:A:G
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43169116A>G, NC_000021.8:g.44589226A>G, NG_009823.1:g.5086A>G, NM_000394.4:c.17A>G, NM_000394.3:c.17A>G, NM_000394.2:c.17A>G, NP_000385.1:p.Gln6Arg

Select item 140652134413.

rs1406521344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43172074 (GRCh38)
21:44592184 (GRCh37)
Canonical SPDI:: NC_000021.9:43172073:G:A
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43172074G>A, NC_000021.8:g.44592184G>A, NG_009823.1:g.8044G>A, NM_000394.4:c.316G>A, NM_000394.3:c.316G>A, NM_000394.2:c.316G>A, NM_001363766.1:c.205G>A, NP_000385.1:p.Asp106Asn, NP_001350695.1:p.Asp69Asn

Select item 140303401614.

rs1403034016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43172080 (GRCh38)
21:44592190 (GRCh37)
Canonical SPDI:: NC_000021.9:43172079:G:A
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000298/5 (TOMMO)
HGVS:: NC_000021.9:g.43172080G>A, NC_000021.8:g.44592190G>A, NG_009823.1:g.8050G>A, NM_000394.4:c.322G>A, NM_000394.3:c.322G>A, NM_000394.2:c.322G>A, NM_001363766.1:c.211G>A, NP_000385.1:p.Gly108Ser, NP_001350695.1:p.Gly71Ser

Select item 138555966015.

rs1385559660 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:43172182 (GRCh38)
21:44592292 (GRCh37)
Canonical SPDI:: NC_000021.9:43172181:T:C
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43172182T>C, NC_000021.8:g.44592292T>C, NG_009823.1:g.8152T>C, NM_000394.4:c.424T>C, NM_000394.3:c.424T>C, NM_000394.2:c.424T>C, NM_001363766.1:c.313T>C, NP_000385.1:p.Cys142Arg, NP_001350695.1:p.Cys105Arg

Select item 135654678716.

rs1356546787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:43169129 (GRCh38)
21:44589239 (GRCh37)
Canonical SPDI:: NC_000021.9:43169128:C:G
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00006/1 (TOMMO)
HGVS:: NC_000021.9:g.43169129C>G, NC_000021.8:g.44589239C>G, NG_009823.1:g.5099C>G, NM_000394.4:c.30C>G, NM_000394.3:c.30C>G, NM_000394.2:c.30C>G, NP_000385.1:p.Phe10Leu

Select item 134380957017.

rs1343809570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:43169199 (GRCh38)
21:44589309 (GRCh37)
Canonical SPDI:: NC_000021.9:43169198:T:C
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43169199T>C, NC_000021.8:g.44589309T>C, NG_009823.1:g.5169T>C, NM_000394.4:c.100T>C, NM_000394.3:c.100T>C, NM_000394.2:c.100T>C, NP_000385.1:p.Tyr34His

Select item 132989925418.

rs1329899254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43172264 (GRCh38)
21:44592374 (GRCh37)
Canonical SPDI:: NC_000021.9:43172263:C:T
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43172264C>T, NC_000021.8:g.44592374C>T, NG_009823.1:g.8234C>T, NM_000394.4:c.506C>T, NM_000394.3:c.506C>T, NM_000394.2:c.506C>T, NM_001363766.1:c.395C>T, NP_000385.1:p.Ser169Leu, NP_001350695.1:p.Ser132Leu

Select item 130360218519.

rs1303602185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43172076 (GRCh38)
21:44592186 (GRCh37)
Canonical SPDI:: NC_000021.9:43172075:C:T
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43172076C>T, NC_000021.8:g.44592186C>T, NG_009823.1:g.8046C>T, NM_000394.4:c.318C>T, NM_000394.3:c.318C>T, NM_000394.2:c.318C>T, NM_001363766.1:c.207C>T

Select item 130155084320.

rs1301550843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43169135 (GRCh38)
21:44589245 (GRCh37)
Canonical SPDI:: NC_000021.9:43169134:C:T
Gene:: CRYAA (Varview), LOC107987300 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000021.9:g.43169135C>T, NC_000021.8:g.44589245C>T, NG_009823.1:g.5105C>T, NM_000394.4:c.36C>T, NM_000394.3:c.36C>T, NM_000394.2:c.36C>T

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