SNP Links for Nucleotide (Select 31563540) - SNP

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Links from Nucleotide

Items: 1 to 20 of 153

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Select item 14861327091.

rs1486132709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:45684932 (GRCh38)
20:44313571 (GRCh37)
Canonical SPDI:: NC_000020.11:45684931:G:T
Gene:: WFDC10B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45684932G>T, NC_000020.10:g.44313571G>T, NM_172006.2:c.120C>A, NM_172131.2:c.168C>A, NP_742003.1:p.Ser40Arg, NP_742143.1:p.Ser56Arg

Select item 14830153012.

rs1483015301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45684703 (GRCh38)
20:44313342 (GRCh37)
Canonical SPDI:: NC_000020.11:45684702:G:A
Gene:: WFDC10B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000212/4 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.45684703G>A, NC_000020.10:g.44313342G>A, NM_172006.2:c.*127C>T, NM_172131.2:c.*127C>T

Select item 14803566653.

rs1480356665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45704999 (GRCh38)
20:44333638 (GRCh37)
Canonical SPDI:: NC_000020.11:45704998:C:T
Gene:: WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
Functional Consequence:: 500B_downstream_variant,5_prime_UTR_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45704999C>T, NC_000020.10:g.44333638C>T, NM_172006.2:c.-211G>A, NM_172131.2:c.-8G>A

Select item 14626328244.

rs1462632824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45684742 (GRCh38)
20:44313381 (GRCh37)
Canonical SPDI:: NC_000020.11:45684741:A:G
Gene:: WFDC10B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.45684742A>G, NC_000020.10:g.44313381A>G, NM_172006.2:c.*88T>C, NM_172131.2:c.*88T>C

Select item 14587021365.

rs1458702136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45704508 (GRCh38)
20:44333147 (GRCh37)
Canonical SPDI:: NC_000020.11:45704507:G:A
Gene:: WFDC13 (Varview), WFDC10B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.00014/2 (ALFA)
HGVS:: NC_000020.11:g.45704508G>A, NC_000020.10:g.44333147G>A, NM_172005.2:c.153G>A, NM_172005.1:c.153G>A, NM_172006.2:c.-76C>T, NM_172131.2:c.128C>T, NP_742002.1:p.Met51Ile, NP_742143.1:p.Ala43Val

Select item 14361933226.

rs1436193322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45684886 (GRCh38)
20:44313525 (GRCh37)
Canonical SPDI:: NC_000020.11:45684885:T:C
Gene:: WFDC10B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.45684886T>C, NC_000020.10:g.44313525T>C, NM_172006.2:c.166A>G, NM_172131.2:c.214A>G, NP_742003.1:p.Thr56Ala, NP_742143.1:p.Thr72Ala

Select item 14319198827.

rs1431919882 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:45684798 (GRCh38)
20:44313437 (GRCh37)
Canonical SPDI:: NC_000020.11:45684797:A:C
Gene:: WFDC10B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45684798A>C, NC_000020.10:g.44313437A>C, NM_172006.2:c.*32T>G, NM_172131.2:c.*32T>G

Select item 14288977438.

rs1428897743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:45684861 (GRCh38)
20:44313500 (GRCh37)
Canonical SPDI:: NC_000020.11:45684860:A:G
Gene:: WFDC10B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45684861A>G, NC_000020.10:g.44313500A>G, NM_172006.2:c.191T>C, NM_172131.2:c.239T>C, NP_742003.1:p.Phe64Ser, NP_742143.1:p.Phe80Ser

Select item 14277078569.

rs1427707856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 20:45684750 (GRCh38)
20:44313389 (GRCh37)
Canonical SPDI:: NC_000020.11:45684749:T:A,NC_000020.11:45684749:T:G
Gene:: WFDC10B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
G=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.45684750T>A, NC_000020.11:g.45684750T>G, NC_000020.10:g.44313389T>A, NC_000020.10:g.44313389T>G, NM_172006.2:c.*80A>T, NM_172006.2:c.*80A>C, NM_172131.2:c.*80A>T, NM_172131.2:c.*80A>C

Select item 142471358710.

rs1424713587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:45684719 (GRCh38)
20:44313358 (GRCh37)
Canonical SPDI:: NC_000020.11:45684718:C:A
Gene:: WFDC10B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.45684719C>A, NC_000020.10:g.44313358C>A, NM_172006.2:c.*111G>T, NM_172131.2:c.*111G>T

Select item 142016802611.

rs1420168026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:45705011 (GRCh38)
20:44333650 (GRCh37)
Canonical SPDI:: NC_000020.11:45705010:T:C
Gene:: WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45705011T>C, NC_000020.10:g.44333650T>C, NM_172006.2:c.-223A>G, NM_172131.2:c.-20A>G

Select item 140636750912.

rs1406367509 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 20:45704960 (GRCh38)
20:44333599 (GRCh37)
Canonical SPDI:: NC_000020.11:45704959:C:
Gene:: WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45704960del, NC_000020.10:g.44333599del, NM_172006.2:c.-172del, NM_172131.2:c.32del, NP_742143.1:p.Ser11fs

Select item 140313888313.

rs1403138883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:45704514 (GRCh38)
20:44333153 (GRCh37)
Canonical SPDI:: NC_000020.11:45704513:A:C
Gene:: WFDC13 (Varview), WFDC10B (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.45704514A>C, NC_000020.10:g.44333153A>C, NM_172005.2:c.159A>C, NM_172005.1:c.159A>C, NM_172006.2:c.-82T>G, NM_172131.2:c.122T>G, NP_742002.1:p.Glu53Asp, NP_742143.1:p.Leu41Arg

Select item 140158155114.

rs1401581551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:45704512 (GRCh38)
20:44333151 (GRCh37)
Canonical SPDI:: NC_000020.11:45704511:G:T
Gene:: WFDC13 (Varview), WFDC10B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45704512G>T, NC_000020.10:g.44333151G>T, NM_172005.2:c.157G>T, NM_172005.1:c.157G>T, NM_172006.2:c.-80C>A, NM_172131.2:c.124C>A, NP_742002.1:p.Glu53Ter, NP_742143.1:p.Pro42Thr

Select item 138689110715.

rs1386891107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:45684846 (GRCh38)
20:44313485 (GRCh37)
Canonical SPDI:: NC_000020.11:45684845:C:T
Gene:: WFDC10B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.45684846C>T, NC_000020.10:g.44313485C>T, NM_172006.2:c.206G>A, NM_172131.2:c.254G>A, NP_742003.1:p.Cys69Tyr, NP_742143.1:p.Cys85Tyr

Select item 137961476616.

rs1379614766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:45704501 (GRCh38)
20:44333140 (GRCh37)
Canonical SPDI:: NC_000020.11:45704500:G:C
Gene:: WFDC13 (Varview), WFDC10B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,5_prime_UTR_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_000020.11:g.45704501G>C, NC_000020.10:g.44333140G>C, NM_172005.2:c.146G>C, NM_172005.1:c.146G>C, NM_172006.2:c.-69C>G, NM_172131.2:c.135C>G, NP_742002.1:p.Cys49Ser, NP_742143.1:p.Tyr45Ter

Select item 137899959417.

rs1378999594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:45704926 (GRCh38)
20:44333565 (GRCh37)
Canonical SPDI:: NC_000020.11:45704925:G:A
Gene:: WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.45704926G>A, NC_000020.10:g.44333565G>A, NM_172006.2:c.-138C>T, NM_172131.2:c.66C>T

Select item 137852357418.

rs1378523574 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:45705017 (GRCh38)
20:44333656 (GRCh37)
Canonical SPDI:: NC_000020.11:45705016:T:A,NC_000020.11:45705016:T:C
Gene:: WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
Functional Consequence:: downstream_transcript_variant,5_prime_UTR_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.45705017T>A, NC_000020.11:g.45705017T>C, NC_000020.10:g.44333656T>A, NC_000020.10:g.44333656T>C, NM_172006.2:c.-229A>T, NM_172006.2:c.-229A>G, NM_172131.2:c.-26A>T, NM_172131.2:c.-26A>G

Select item 137198975219.

rs1371989752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:45704961 (GRCh38)
20:44333600 (GRCh37)
Canonical SPDI:: NC_000020.11:45704960:T:A
Gene:: WFDC13 (Varview), WFDC10B (Varview), MIR3617 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.45704961T>A, NC_000020.10:g.44333600T>A, NM_172006.2:c.-173A>T, NM_172131.2:c.31A>T, NP_742143.1:p.Ser11Cys

Select item 136962005420.

rs1369620054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:45684790 (GRCh38)
20:44313429 (GRCh37)
Canonical SPDI:: NC_000020.11:45684789:G:T
Gene:: WFDC10B (Varview)
Functional Consequence:: 3_prime_UTR_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_000020.11:g.45684790G>T, NC_000020.10:g.44313429G>T, NM_172006.2:c.*40C>A, NM_172131.2:c.*40C>A