SNP Links for Protein (Select 767902514) - SNP

Select item 14909242101.

rs1490924210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:74719352 (GRCh38)
1:75185036 (GRCh37)
Canonical SPDI:: NC_000001.11:74719351:A:C,NC_000001.11:74719351:A:G
Gene:: CRYZ (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.74719352A>C, NC_000001.11:g.74719352A>G, NC_000001.10:g.75185036A>C, NC_000001.10:g.75185036A>G, NG_029880.1:g.19057T>G, NG_029880.1:g.19057T>C, NM_001889.4:c.285T>G, NM_001889.4:c.285T>C, NM_001889.3:c.285T>G, NM_001889.3:c.285T>C, NM_001130042.2:c.285T>G, NM_001130042.2:c.285T>C, NM_001130042.1:c.285T>G, NM_001130042.1:c.285T>C, NM_001130043.2:c.285T>G, NM_001130043.2:c.285T>C, NM_001130043.1:c.285T>G, NM_001130043.1:c.285T>C, XM_011540747.3:c.285T>G, XM_011540747.3:c.285T>C, XM_011540747.2:c.285T>G, XM_011540747.2:c.285T>C, XM_011540747.1:c.285T>G, XM_011540747.1:c.285T>C, XM_017000367.3:c.285T>G, XM_017000367.3:c.285T>C, XM_017000367.2:c.285T>G, XM_017000367.2:c.285T>C, XM_017000367.1:c.285T>G, XM_017000367.1:c.285T>C, XM_047446751.1:c.285T>G, XM_047446751.1:c.285T>C

Select item 14826222212.

rs1482622221 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:74710111 (GRCh38)
1:75175795 (GRCh37)
Canonical SPDI:: NC_000001.11:74710110:A:G
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.74710111A>G, NC_000001.10:g.75175795A>G, NG_029880.1:g.28298T>C, NM_001889.4:c.617T>C, NM_001889.3:c.617T>C, NM_001130042.2:c.617T>C, NM_001130042.1:c.617T>C, NM_001130043.2:c.617T>C, NM_001130043.1:c.617T>C, NM_001134759.2:c.206T>C, NM_001134759.1:c.206T>C, XM_011540747.3:c.617T>C, XM_011540747.2:c.617T>C, XM_011540747.1:c.617T>C, XM_017000367.3:c.617T>C, XM_017000367.2:c.617T>C, XM_017000367.1:c.617T>C, XM_047446751.1:c.617T>C, NP_001880.2:p.Ile206Thr, NP_001123514.1:p.Ile206Thr, NP_001123515.1:p.Ile206Thr, NP_001128231.1:p.Ile69Thr, XP_011539049.1:p.Ile206Thr, XP_016855856.1:p.Ile206Thr, XP_047302707.1:p.Ile206Thr

Select item 14816365423.

rs1481636542 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:74719297 (GRCh38)
1:75184981 (GRCh37)
Canonical SPDI:: NC_000001.11:74719295:ACA:A
Gene:: CRYZ (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.74719297_74719298del, NC_000001.10:g.75184981_75184982del, NG_029880.1:g.19112_19113del, NM_001889.4:c.340_341del, NM_001889.3:c.340_341del, NM_001130042.2:c.340_341del, NM_001130042.1:c.340_341del, NM_001130043.2:c.340_341del, NM_001130043.1:c.340_341del, XM_011540747.3:c.340_341del, XM_011540747.2:c.340_341del, XM_011540747.1:c.340_341del, XM_017000367.3:c.340_341del, XM_017000367.2:c.340_341del, XM_017000367.1:c.340_341del, XM_047446751.1:c.340_341del, NP_001880.2:p.Val114fs, NP_001123514.1:p.Val114fs, NP_001123515.1:p.Val114fs, XP_011539049.1:p.Val114fs, XP_016855856.1:p.Val114fs, XP_047302707.1:p.Val114fs

Select item 14808432334.

rs1480843233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:74724806 (GRCh38)
1:75190490 (GRCh37)
Canonical SPDI:: NC_000001.11:74724805:T:C
Gene:: CRYZ (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.74724806T>C, NC_000001.10:g.75190490T>C, NG_029880.1:g.13603A>G, NM_001889.4:c.16A>G, NM_001889.3:c.16A>G, NM_001130042.2:c.16A>G, NM_001130042.1:c.16A>G, NM_001130043.2:c.16A>G, NM_001130043.1:c.16A>G, XM_011540747.3:c.16A>G, XM_011540747.2:c.16A>G, XM_011540747.1:c.16A>G, XM_017000367.3:c.16A>G, XM_017000367.2:c.16A>G, XM_017000367.1:c.16A>G, XM_047446751.1:c.16A>G, NP_001880.2:p.Lys6Glu, NP_001123514.1:p.Lys6Glu, NP_001123515.1:p.Lys6Glu, XP_011539049.1:p.Lys6Glu, XP_016855856.1:p.Lys6Glu, XP_047302707.1:p.Lys6Glu

Select item 14806507525.

rs1480650752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:74710227 (GRCh38)
1:75175911 (GRCh37)
Canonical SPDI:: NC_000001.11:74710226:T:A
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.74710227T>A, NC_000001.10:g.75175911T>A, NG_029880.1:g.28182A>T, NM_001889.4:c.501A>T, NM_001889.3:c.501A>T, NM_001130042.2:c.501A>T, NM_001130042.1:c.501A>T, NM_001130043.2:c.501A>T, NM_001130043.1:c.501A>T, NM_001134759.2:c.90A>T, NM_001134759.1:c.90A>T, XM_011540747.3:c.501A>T, XM_011540747.2:c.501A>T, XM_011540747.1:c.501A>T, XM_017000367.3:c.501A>T, XM_017000367.2:c.501A>T, XM_017000367.1:c.501A>T, XM_047446751.1:c.501A>T, NP_001880.2:p.Gln167His, NP_001123514.1:p.Gln167His, NP_001123515.1:p.Gln167His, NP_001128231.1:p.Gln30His, XP_011539049.1:p.Gln167His, XP_016855856.1:p.Gln167His, XP_047302707.1:p.Gln167His

Select item 14783293206.

rs1478329320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:74707194 (GRCh38)
1:75172878 (GRCh37)
Canonical SPDI:: NC_000001.11:74707193:C:T
Gene:: CRYZ (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.74707194C>T, NC_000001.10:g.75172878C>T, NG_029880.1:g.31215G>A, NM_001889.4:c.641G>A, NM_001889.3:c.641G>A, NM_001130042.2:c.641G>A, NM_001130042.1:c.641G>A, NM_001134759.2:c.230G>A, NM_001134759.1:c.230G>A, XM_011540747.3:c.641G>A, XM_011540747.2:c.641G>A, XM_011540747.1:c.641G>A, NP_001880.2:p.Gly214Asp, NP_001123514.1:p.Gly214Asp, NP_001128231.1:p.Gly77Asp, XP_011539049.1:p.Gly214Asp

Select item 14579393497.

rs1457939349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:74706350 (GRCh38)
1:75172034 (GRCh37)
Canonical SPDI:: NC_000001.11:74706349:A:G
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.74706350A>G, NC_000001.10:g.75172034A>G, NG_029880.1:g.32059T>C, NM_001889.4:c.936T>C, NM_001889.3:c.936T>C, NM_001130042.2:c.936T>C, NM_001130042.1:c.936T>C, NM_001130043.2:c.834T>C, NM_001130043.1:c.834T>C, NM_001134759.2:c.525T>C, NM_001134759.1:c.525T>C, XM_011540747.3:c.936T>C, XM_011540747.2:c.936T>C, XM_011540747.1:c.936T>C, XM_017000367.3:c.834T>C, XM_017000367.2:c.834T>C, XM_017000367.1:c.834T>C, XM_047446751.1:c.834T>C

Select item 14577433338.

rs1457743333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:74724759 (GRCh38)
1:75190443 (GRCh37)
Canonical SPDI:: NC_000001.11:74724758:G:A
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.74724759G>A, NC_000001.10:g.75190443G>A, NG_029880.1:g.13650C>T, NM_001889.4:c.63C>T, NM_001889.3:c.63C>T, NM_001130042.2:c.63C>T, NM_001130042.1:c.63C>T, NM_001130043.2:c.63C>T, NM_001130043.1:c.63C>T, XM_011540747.3:c.63C>T, XM_011540747.2:c.63C>T, XM_011540747.1:c.63C>T, XM_017000367.3:c.63C>T, XM_017000367.2:c.63C>T, XM_017000367.1:c.63C>T, XM_047446751.1:c.63C>T

Select item 14538021819.

rs1453802181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:74707180 (GRCh38)
1:75172864 (GRCh37)
Canonical SPDI:: NC_000001.11:74707179:C:A
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
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_000001.11:g.74707180C>A, NC_000001.10:g.75172864C>A, NG_029880.1:g.31229G>T, NM_001889.4:c.655G>T, NM_001889.3:c.655G>T, NM_001130042.2:c.655G>T, NM_001130042.1:c.655G>T, NM_001134759.2:c.244G>T, NM_001134759.1:c.244G>T, XM_011540747.3:c.655G>T, XM_011540747.2:c.655G>T, XM_011540747.1:c.655G>T, NP_001880.2:p.Asp219Tyr, NP_001123514.1:p.Asp219Tyr, NP_001128231.1:p.Asp82Tyr, XP_011539049.1:p.Asp219Tyr

Select item 145271503610.

rs1452715036 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:74723225 (GRCh38)
1:75188909 (GRCh37)
Canonical SPDI:: NC_000001.11:74723223:TAT:T
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74723225_74723226del, NC_000001.10:g.75188909_75188910del, NG_029880.1:g.15184_15185del, NM_001889.4:c.157_158del, NM_001889.3:c.157_158del, NM_001130042.2:c.157_158del, NM_001130042.1:c.157_158del, NM_001130043.2:c.157_158del, NM_001130043.1:c.157_158del, NM_001134759.2:c.-91_-90del, NM_001134759.1:c.-91_-90del, XM_011540747.3:c.157_158del, XM_011540747.2:c.157_158del, XM_011540747.1:c.157_158del, XM_017000367.3:c.157_158del, XM_017000367.2:c.157_158del, XM_017000367.1:c.157_158del, XM_047446751.1:c.157_158del, NP_001880.2:p.Tyr53fs, NP_001123514.1:p.Tyr53fs, NP_001123515.1:p.Tyr53fs, XP_011539049.1:p.Tyr53fs, XP_016855856.1:p.Tyr53fs, XP_047302707.1:p.Tyr53fs

Select item 145132089211.

rs1451320892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:74719227 (GRCh38)
1:75184911 (GRCh37)
Canonical SPDI:: NC_000001.11:74719226:T:A,NC_000001.11:74719226:T:C
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74719227T>A, NC_000001.11:g.74719227T>C, NC_000001.10:g.75184911T>A, NC_000001.10:g.75184911T>C, NG_029880.1:g.19182A>T, NG_029880.1:g.19182A>G, NM_001889.4:c.410A>T, NM_001889.4:c.410A>G, NM_001889.3:c.410A>T, NM_001889.3:c.410A>G, NM_001130042.2:c.410A>T, NM_001130042.2:c.410A>G, NM_001130042.1:c.410A>T, NM_001130042.1:c.410A>G, NM_001130043.2:c.410A>T, NM_001130043.2:c.410A>G, NM_001130043.1:c.410A>T, NM_001130043.1:c.410A>G, XM_011540747.3:c.410A>T, XM_011540747.3:c.410A>G, XM_011540747.2:c.410A>T, XM_011540747.2:c.410A>G, XM_011540747.1:c.410A>T, XM_011540747.1:c.410A>G, XM_017000367.3:c.410A>T, XM_017000367.3:c.410A>G, XM_017000367.2:c.410A>T, XM_017000367.2:c.410A>G, XM_017000367.1:c.410A>T, XM_017000367.1:c.410A>G, XM_047446751.1:c.410A>T, XM_047446751.1:c.410A>G, NP_001880.2:p.Tyr137Phe, NP_001880.2:p.Tyr137Cys, NP_001123514.1:p.Tyr137Phe, NP_001123514.1:p.Tyr137Cys, NP_001123515.1:p.Tyr137Phe, NP_001123515.1:p.Tyr137Cys, XP_011539049.1:p.Tyr137Phe, XP_011539049.1:p.Tyr137Cys, XP_016855856.1:p.Tyr137Phe, XP_016855856.1:p.Tyr137Cys, XP_047302707.1:p.Tyr137Phe, XP_047302707.1:p.Tyr137Cys

Select item 144756418212.

rs1447564182 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:74706974 (GRCh38)
1:75172659 (GRCh37)
Canonical SPDI:: NC_000001.11:74706974:GT:GTGT
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
GT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.74706975_74706976dup, NC_000001.10:g.75172659_75172660dup, NG_029880.1:g.31433_31434dup, NM_001889.4:c.751_752dup, NM_001889.3:c.751_752dup, NM_001130042.2:c.751_752dup, NM_001130042.1:c.751_752dup, NM_001130043.2:c.649_650dup, NM_001130043.1:c.649_650dup, NM_001134759.2:c.340_341dup, NM_001134759.1:c.340_341dup, XM_011540747.3:c.751_752dup, XM_011540747.2:c.751_752dup, XM_011540747.1:c.751_752dup, XM_017000367.3:c.649_650dup, XM_017000367.2:c.649_650dup, XM_017000367.1:c.649_650dup, XM_047446751.1:c.649_650dup, NP_001880.2:p.Ile252fs, NP_001123514.1:p.Ile252fs, NP_001123515.1:p.Ile218fs, NP_001128231.1:p.Ile115fs, XP_011539049.1:p.Ile252fs, XP_016855856.1:p.Ile218fs, XP_047302707.1:p.Ile218fs

Select item 144673692813.

rs1446736928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:74706304 (GRCh38)
1:75171988 (GRCh37)
Canonical SPDI:: NC_000001.11:74706303:G:A
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74706304G>A, NC_000001.10:g.75171988G>A, NG_029880.1:g.32105C>T, NM_001889.4:c.982C>T, NM_001889.3:c.982C>T, NM_001130042.2:c.982C>T, NM_001130042.1:c.982C>T, NM_001130043.2:c.880C>T, NM_001130043.1:c.880C>T, NM_001134759.2:c.571C>T, NM_001134759.1:c.571C>T, XM_011540747.3:c.982C>T, XM_011540747.2:c.982C>T, XM_011540747.1:c.982C>T, XM_017000367.3:c.880C>T, XM_017000367.2:c.880C>T, XM_017000367.1:c.880C>T, XM_047446751.1:c.880C>T, NP_001880.2:p.Leu328Phe, NP_001123514.1:p.Leu328Phe, NP_001123515.1:p.Leu294Phe, NP_001128231.1:p.Leu191Phe, XP_011539049.1:p.Leu328Phe, XP_016855856.1:p.Leu294Phe, XP_047302707.1:p.Leu294Phe

Select item 144021122714.

rs1440211227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:74710168 (GRCh38)
1:75175852 (GRCh37)
Canonical SPDI:: NC_000001.11:74710167:T:C
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.74710168T>C, NC_000001.10:g.75175852T>C, NG_029880.1:g.28241A>G, NM_001889.4:c.560A>G, NM_001889.3:c.560A>G, NM_001130042.2:c.560A>G, NM_001130042.1:c.560A>G, NM_001130043.2:c.560A>G, NM_001130043.1:c.560A>G, NM_001134759.2:c.149A>G, NM_001134759.1:c.149A>G, XM_011540747.3:c.560A>G, XM_011540747.2:c.560A>G, XM_011540747.1:c.560A>G, XM_017000367.3:c.560A>G, XM_017000367.2:c.560A>G, XM_017000367.1:c.560A>G, XM_047446751.1:c.560A>G, NP_001880.2:p.Lys187Arg, NP_001123514.1:p.Lys187Arg, NP_001123515.1:p.Lys187Arg, NP_001128231.1:p.Lys50Arg, XP_011539049.1:p.Lys187Arg, XP_016855856.1:p.Lys187Arg, XP_047302707.1:p.Lys187Arg

Select item 143998175015.

rs1439981750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:74719318 (GRCh38)
1:75185002 (GRCh37)
Canonical SPDI:: NC_000001.11:74719317:C:G
Gene:: CRYZ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.74719318C>G, NC_000001.10:g.75185002C>G, NG_029880.1:g.19091G>C, NM_001889.4:c.319G>C, NM_001889.3:c.319G>C, NM_001130042.2:c.319G>C, NM_001130042.1:c.319G>C, NM_001130043.2:c.319G>C, NM_001130043.1:c.319G>C, XM_011540747.3:c.319G>C, XM_011540747.2:c.319G>C, XM_011540747.1:c.319G>C, XM_017000367.3:c.319G>C, XM_017000367.2:c.319G>C, XM_017000367.1:c.319G>C, XM_047446751.1:c.319G>C, NP_001880.2:p.Ala107Pro, NP_001123514.1:p.Ala107Pro, NP_001123515.1:p.Ala107Pro, XP_011539049.1:p.Ala107Pro, XP_016855856.1:p.Ala107Pro, XP_047302707.1:p.Ala107Pro

Select item 143372235416.

rs1433722354 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACG [Show Flanks]
Chromosome:: 1:74706959 (GRCh38)
1:75172644 (GRCh37)
Canonical SPDI:: NC_000001.11:74706959:G:GACG
Gene:: CRYZ (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GACG=0./0 (ALFA)
GAC=0.000004/1 (TOPMED)
GAC=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74706960_74706961insACG, NC_000001.10:g.75172644_75172645insACG, NG_029880.1:g.31449_31450insGTC, NM_001889.4:c.767_768insGTC, NM_001889.3:c.767_768insGTC, NM_001130042.2:c.767_768insGTC, NM_001130042.1:c.767_768insGTC, NM_001130043.2:c.665_666insGTC, NM_001130043.1:c.665_666insGTC, NM_001134759.2:c.356_357insGTC, NM_001134759.1:c.356_357insGTC, XM_011540747.3:c.767_768insGTC, XM_011540747.2:c.767_768insGTC, XM_011540747.1:c.767_768insGTC, XM_017000367.3:c.665_666insGTC, XM_017000367.2:c.665_666insGTC, XM_017000367.1:c.665_666insGTC, XM_047446751.1:c.665_666insGTC, NP_001880.2:p.Arg257_Asp258insSer, NP_001123514.1:p.Arg257_Asp258insSer, NP_001123515.1:p.Arg223_Asp224insSer, NP_001128231.1:p.Arg120_Asp121insSer, XP_011539049.1:p.Arg257_Asp258insSer, XP_016855856.1:p.Arg223_Asp224insSer, XP_047302707.1:p.Arg223_Asp224insSer

Select item 143032287217.

rs1430322872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:74724747 (GRCh38)
1:75190431 (GRCh37)
Canonical SPDI:: NC_000001.11:74724746:T:C
Gene:: CRYZ (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.74724747T>C, NC_000001.10:g.75190431T>C, NG_029880.1:g.13662A>G, NM_001889.4:c.75A>G, NM_001889.3:c.75A>G, NM_001130042.2:c.75A>G, NM_001130042.1:c.75A>G, NM_001130043.2:c.75A>G, NM_001130043.1:c.75A>G, XM_011540747.3:c.75A>G, XM_011540747.2:c.75A>G, XM_011540747.1:c.75A>G, XM_017000367.3:c.75A>G, XM_017000367.2:c.75A>G, XM_017000367.1:c.75A>G, XM_047446751.1:c.75A>G

Select item 142865138618.

rs1428651386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:74724772 (GRCh38)
1:75190456 (GRCh37)
Canonical SPDI:: NC_000001.11:74724771:C:A
Gene:: CRYZ (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.74724772C>A, NC_000001.10:g.75190456C>A, NG_029880.1:g.13637G>T, NM_001889.4:c.50G>T, NM_001889.3:c.50G>T, NM_001130042.2:c.50G>T, NM_001130042.1:c.50G>T, NM_001130043.2:c.50G>T, NM_001130043.1:c.50G>T, XM_011540747.3:c.50G>T, XM_011540747.2:c.50G>T, XM_011540747.1:c.50G>T, XM_017000367.3:c.50G>T, XM_017000367.2:c.50G>T, XM_017000367.1:c.50G>T, XM_047446751.1:c.50G>T, NP_001880.2:p.Gly17Val, NP_001123514.1:p.Gly17Val, NP_001123515.1:p.Gly17Val, XP_011539049.1:p.Gly17Val, XP_016855856.1:p.Gly17Val, XP_047302707.1:p.Gly17Val

Select item 142800931919.

rs1428009319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:74719292 (GRCh38)
1:75184976 (GRCh37)
Canonical SPDI:: NC_000001.11:74719291:G:C
Gene:: CRYZ (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.74719292G>C, NC_000001.10:g.75184976G>C, NG_029880.1:g.19117C>G, NM_001889.4:c.345C>G, NM_001889.3:c.345C>G, NM_001130042.2:c.345C>G, NM_001130042.1:c.345C>G, NM_001130043.2:c.345C>G, NM_001130043.1:c.345C>G, XM_011540747.3:c.345C>G, XM_011540747.2:c.345C>G, XM_011540747.1:c.345C>G, XM_017000367.3:c.345C>G, XM_017000367.2:c.345C>G, XM_017000367.1:c.345C>G, XM_047446751.1:c.345C>G, NP_001880.2:p.Tyr115Ter, NP_001123514.1:p.Tyr115Ter, NP_001123515.1:p.Tyr115Ter, XP_011539049.1:p.Tyr115Ter, XP_016855856.1:p.Tyr115Ter, XP_047302707.1:p.Tyr115Ter

Select item 142700522920.

rs1427005229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:74719218 (GRCh38)
1:75184902 (GRCh37)
Canonical SPDI:: NC_000001.11:74719217:A:C
Gene:: CRYZ (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.74719218A>C, NC_000001.10:g.75184902A>C, NG_029880.1:g.19191T>G, NM_001889.4:c.419T>G, NM_001889.3:c.419T>G, NM_001130042.2:c.419T>G, NM_001130042.1:c.419T>G, NM_001130043.2:c.419T>G, NM_001130043.1:c.419T>G, XM_011540747.3:c.419T>G, XM_011540747.2:c.419T>G, XM_011540747.1:c.419T>G, XM_017000367.3:c.419T>G, XM_017000367.2:c.419T>G, XM_017000367.1:c.419T>G, XM_047446751.1:c.419T>G, NP_001880.2:p.Leu140Arg, NP_001123514.1:p.Leu140Arg, NP_001123515.1:p.Leu140Arg, XP_011539049.1:p.Leu140Arg, XP_016855856.1:p.Leu140Arg, XP_047302707.1:p.Leu140Arg

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Result Filters

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