SNP Links for Protein (Select 12056461) - SNP

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Links from Protein

Items: 1 to 20 of 220

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Select item 14850221731.

rs1485022173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:29254214 (GRCh38)
17:27581232 (GRCh37)
Canonical SPDI:: NC_000017.11:29254213:C:A,NC_000017.11:29254213:C:T
Gene:: CRYBA1 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_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_000017.11:g.29254214C>A, NC_000017.11:g.29254214C>T, NC_000017.10:g.27581232C>A, NC_000017.10:g.27581232C>T, NG_008037.1:g.12358C>A, NG_008037.1:g.12358C>T, NM_005208.5:c.513C>A, NM_005208.5:c.513C>T, NM_005208.4:c.513C>A, NM_005208.4:c.513C>T, NP_005199.2:p.Tyr171Ter

Select item 14812602532.

rs1481260253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:29254297 (GRCh38)
17:27581315 (GRCh37)
Canonical SPDI:: NC_000017.11:29254296:G:C
Gene:: CRYBA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000017.11:g.29254297G>C, NC_000017.10:g.27581315G>C, NG_008037.1:g.12441G>C, NM_005208.5:c.596G>C, NM_005208.4:c.596G>C, NP_005199.2:p.Gly199Ala

Select item 14810661303.

rs1481066130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:29250250 (GRCh38)
17:27577268 (GRCh37)
Canonical SPDI:: NC_000017.11:29250249:C:A,NC_000017.11:29250249:C:T
Gene:: CRYBA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.29250250C>A, NC_000017.11:g.29250250C>T, NC_000017.10:g.27577268C>A, NC_000017.10:g.27577268C>T, NG_008037.1:g.8394C>A, NG_008037.1:g.8394C>T, NM_005208.5:c.165C>A, NM_005208.5:c.165C>T, NM_005208.4:c.165C>A, NM_005208.4:c.165C>T

Select item 14785876984.

rs1478587698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29252094 (GRCh38)
17:27579112 (GRCh37)
Canonical SPDI:: NC_000017.11:29252093:T:C
Gene:: CRYBA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000602/10 (TOMMO)
HGVS:: NC_000017.11:g.29252094T>C, NC_000017.10:g.27579112T>C, NG_008037.1:g.10238T>C, NM_005208.5:c.246T>C, NM_005208.4:c.246T>C

Select item 14743996875.

rs1474399687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:29254340 (GRCh38)
17:27581358 (GRCh37)
Canonical SPDI:: NC_000017.11:29254339:C:G
Gene:: CRYBA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29254340C>G, NC_000017.10:g.27581358C>G, NG_008037.1:g.12484C>G, NM_005208.5:c.639C>G, NM_005208.4:c.639C>G, NP_005199.2:p.Ile213Met

Select item 14669259336.

rs1466925933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29252180 (GRCh38)
17:27579198 (GRCh37)
Canonical SPDI:: NC_000017.11:29252179:T:C
Gene:: CRYBA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.29252180T>C, NC_000017.10:g.27579198T>C, NG_008037.1:g.10324T>C, NM_005208.5:c.332T>C, NM_005208.4:c.332T>C, NP_005199.2:p.Met111Thr

Select item 14534170777.

rs1453417077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:29252153 (GRCh38)
17:27579171 (GRCh37)
Canonical SPDI:: NC_000017.11:29252152:G:C
Gene:: CRYBA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29252153G>C, NC_000017.10:g.27579171G>C, NG_008037.1:g.10297G>C, NM_005208.5:c.305G>C, NM_005208.4:c.305G>C, NP_005199.2:p.Ser102Thr

Select item 14378439108.

rs1437843910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29249195 (GRCh38)
17:27576213 (GRCh37)
Canonical SPDI:: NC_000017.11:29249194:G:A
Gene:: CRYBA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.29249195G>A, NC_000017.10:g.27576213G>A, NG_008037.1:g.7339G>A, NM_005208.5:c.85G>A, NM_005208.4:c.85G>A, NP_005199.2:p.Gly29Arg

Select item 14313044549.

rs1431304454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29254292 (GRCh38)
17:27581310 (GRCh37)
Canonical SPDI:: NC_000017.11:29254291:G:A
Gene:: CRYBA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29254292G>A, NC_000017.10:g.27581310G>A, NG_008037.1:g.12436G>A, NM_005208.5:c.591G>A, NM_005208.4:c.591G>A

Select item 142846129310.

rs1428461293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29253709 (GRCh38)
17:27580727 (GRCh37)
Canonical SPDI:: NC_000017.11:29253708:G:A
Gene:: CRYBA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.29253709G>A, NC_000017.10:g.27580727G>A, NG_008037.1:g.11853G>A, NM_005208.5:c.427G>A, NM_005208.4:c.427G>A, NP_005199.2:p.Asp143Asn

Select item 141983348211.

rs1419833482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:29254345 (GRCh38)
17:27581363 (GRCh37)
Canonical SPDI:: NC_000017.11:29254344:A:C
Gene:: CRYBA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.29254345A>C, NC_000017.10:g.27581363A>C, NG_008037.1:g.12489A>C, NM_005208.5:c.644A>C, NM_005208.4:c.644A>C, NP_005199.2:p.Gln215Pro

Select item 141078383612.

rs1410783836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:29254245 (GRCh38)
17:27581263 (GRCh37)
Canonical SPDI:: NC_000017.11:29254244:A:T
Gene:: CRYBA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29254245A>T, NC_000017.10:g.27581263A>T, NG_008037.1:g.12389A>T, NM_005208.5:c.544A>T, NM_005208.4:c.544A>T, NP_005199.2:p.Ile182Phe

Select item 140441820113.

rs1404418201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29250231 (GRCh38)
17:27577249 (GRCh37)
Canonical SPDI:: NC_000017.11:29250230:C:T
Gene:: CRYBA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.29250231C>T, NC_000017.10:g.27577249C>T, NG_008037.1:g.8375C>T, NM_005208.5:c.146C>T, NM_005208.4:c.146C>T, NP_005199.2:p.Thr49Ile

Select item 139215058914.

rs1392150589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:29253712 (GRCh38)
17:27580730 (GRCh37)
Canonical SPDI:: NC_000017.11:29253711:G:A,NC_000017.11:29253711:G:C
Gene:: CRYBA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000017.11:g.29253712G>A, NC_000017.11:g.29253712G>C, NC_000017.10:g.27580730G>A, NC_000017.10:g.27580730G>C, NG_008037.1:g.11856G>A, NG_008037.1:g.11856G>C, NM_005208.5:c.430G>A, NM_005208.5:c.430G>C, NM_005208.4:c.430G>A, NM_005208.4:c.430G>C, NP_005199.2:p.Asp144Asn, NP_005199.2:p.Asp144His

Select item 138618553015.

rs1386185530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:29252128 (GRCh38)
17:27579146 (GRCh37)
Canonical SPDI:: NC_000017.11:29252127:C:T
Gene:: CRYBA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29252128C>T, NC_000017.10:g.27579146C>T, NG_008037.1:g.10272C>T, NM_005208.5:c.280C>T, NM_005208.4:c.280C>T, NP_005199.2:p.Pro94Ser

Select item 138083873316.

rs1380838733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:29254248 (GRCh38)
17:27581266 (GRCh37)
Canonical SPDI:: NC_000017.11:29254247:T:C
Gene:: CRYBA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.29254248T>C, NC_000017.10:g.27581266T>C, NG_008037.1:g.12392T>C, NM_005208.5:c.547T>C, NM_005208.4:c.547T>C

Select item 138001205217.

rs1380012052 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:29253747 (GRCh38)
17:27580765 (GRCh37)
Canonical SPDI:: NC_000017.11:29253746:C:A
Gene:: CRYBA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.29253747C>A, NC_000017.10:g.27580765C>A, NG_008037.1:g.11891C>A, NM_005208.5:c.465C>A, NM_005208.4:c.465C>A, NP_005199.2:p.Asn155Lys

Select item 137931761418.

rs1379317614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:29252198 (GRCh38)
17:27579216 (GRCh37)
Canonical SPDI:: NC_000017.11:29252197:G:C
Gene:: CRYBA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.29252198G>C, NC_000017.10:g.27579216G>C, NG_008037.1:g.10342G>C, NM_005208.5:c.350G>C, NM_005208.4:c.350G>C, NP_005199.2:p.Cys117Ser

Select item 137039882619.

rs1370398826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:29254310 (GRCh38)
17:27581328 (GRCh37)
Canonical SPDI:: NC_000017.11:29254309:G:A
Gene:: CRYBA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.29254310G>A, NC_000017.10:g.27581328G>A, NG_008037.1:g.12454G>A, NM_005208.5:c.609G>A, NM_005208.4:c.609G>A

Select item 136109668620.

rs1361096686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:29249155 (GRCh38)
17:27576173 (GRCh37)
Canonical SPDI:: NC_000017.11:29249154:C:A,NC_000017.11:29249154:C:T
Gene:: CRYBA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.29249155C>A, NC_000017.11:g.29249155C>T, NC_000017.10:g.27576173C>A, NC_000017.10:g.27576173C>T, NG_008037.1:g.7299C>A, NG_008037.1:g.7299C>T, NM_005208.5:c.45C>A, NM_005208.5:c.45C>T, NM_005208.4:c.45C>A, NM_005208.4:c.45C>T

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