SNP Links for Protein (Select 21040279) - SNP

Links from Protein

Items: 1 to 20 of 108

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Select item 14891498741.

rs1489149874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:158921 (GRCh38)
20:139562 (GRCh37)
Canonical SPDI:: NC_000020.11:158920:T:C
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000020.11:g.158921T>C, NC_000020.10:g.139562T>C, NM_139074.4:c.197T>C, NM_139074.3:c.197T>C, NP_620713.1:p.Ile66Thr

Select item 14550792992.

rs1455079299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:157548 (GRCh38)
20:138189 (GRCh37)
Canonical SPDI:: NC_000020.11:157547:G:A
Gene:: DEFB127 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.157548G>A, NC_000020.10:g.138189G>A, NM_139074.4:c.4G>A, NM_139074.3:c.4G>A, NP_620713.1:p.Gly2Arg

Select item 14393462003.

rs1439346200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:158847 (GRCh38)
20:139488 (GRCh37)
Canonical SPDI:: NC_000020.11:158846:A:G
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.158847A>G, NC_000020.10:g.139488A>G, NM_139074.4:c.123A>G, NM_139074.3:c.123A>G

Select item 14360280794.

rs1436028079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:158878 (GRCh38)
20:139519 (GRCh37)
Canonical SPDI:: NC_000020.11:158877:T:C
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.158878T>C, NC_000020.10:g.139519T>C, NM_139074.4:c.154T>C, NM_139074.3:c.154T>C, NP_620713.1:p.Tyr52His

Select item 14359721635.

rs1435972163 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:158987 (GRCh38)
20:139628 (GRCh37)
Canonical SPDI:: NC_000020.11:158986:T:C
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.158987T>C, NC_000020.10:g.139628T>C, NM_139074.4:c.263T>C, NM_139074.3:c.263T>C, NP_620713.1:p.Ile88Thr

Select item 14336230626.

rs1433623062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:157558 (GRCh38)
20:138199 (GRCh37)
Canonical SPDI:: NC_000020.11:157557:T:G
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.157558T>G, NC_000020.10:g.138199T>G, NM_139074.4:c.14T>G, NM_139074.3:c.14T>G, NP_620713.1:p.Met5Arg

Select item 14331291727.

rs1433129172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:157579 (GRCh38)
20:138220 (GRCh37)
Canonical SPDI:: NC_000020.11:157578:T:C
Gene:: DEFB127 (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)
C=0.000008/2 (GnomAD_exomes)
C=0.000034/9 (TOPMED)
HGVS:: NC_000020.11:g.157579T>C, NC_000020.10:g.138220T>C, NM_139074.4:c.35T>C, NM_139074.3:c.35T>C, NP_620713.1:p.Phe12Ser

Select item 14328730088.

rs1432873008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:157569 (GRCh38)
20:138210 (GRCh37)
Canonical SPDI:: NC_000020.11:157568:A:G
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.157569A>G, NC_000020.10:g.138210A>G, NM_139074.4:c.25A>G, NM_139074.3:c.25A>G, NP_620713.1:p.Ile9Val

Select item 14219209869.

rs1421920986 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 20:158866 (GRCh38)
20:139507 (GRCh37)
Canonical SPDI:: NC_000020.11:158865:G:
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.158866del, NC_000020.10:g.139507del, NM_139074.4:c.142del, NM_139074.3:c.142del, NP_620713.1:p.Glu48fs

Select item 141219891410.

rs1412198914 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:157565 (GRCh38)
20:138206 (GRCh37)
Canonical SPDI:: NC_000020.11:157564:T:C
Gene:: DEFB127 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.157565T>C, NC_000020.10:g.138206T>C, NM_139074.4:c.21T>C, NM_139074.3:c.21T>C

Select item 140869200411.

rs1408692004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:158910 (GRCh38)
20:139551 (GRCh37)
Canonical SPDI:: NC_000020.11:158909:A:G
Gene:: DEFB127 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.158910A>G, NC_000020.10:g.139551A>G, NM_139074.4:c.186A>G, NM_139074.3:c.186A>G

Select item 140746381412.

rs1407463814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:158814 (GRCh38)
20:139455 (GRCh37)
Canonical SPDI:: NC_000020.11:158813:A:G
Gene:: DEFB127 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.158814A>G, NC_000020.10:g.139455A>G, NM_139074.4:c.90A>G, NM_139074.3:c.90A>G

Select item 140208284013.

rs1402082840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:158961 (GRCh38)
20:139602 (GRCh37)
Canonical SPDI:: NC_000020.11:158960:G:A
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.158961G>A, NC_000020.10:g.139602G>A, NM_139074.4:c.237G>A, NM_139074.3:c.237G>A

Select item 139321193514.

rs1393211935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:157567 (GRCh38)
20:138208 (GRCh37)
Canonical SPDI:: NC_000020.11:157566:C:A,NC_000020.11:157566:C:T
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000020.11:g.157567C>A, NC_000020.11:g.157567C>T, NC_000020.10:g.138208C>A, NC_000020.10:g.138208C>T, NM_139074.4:c.23C>A, NM_139074.4:c.23C>T, NM_139074.3:c.23C>A, NM_139074.3:c.23C>T, NP_620713.1:p.Ala8Glu, NP_620713.1:p.Ala8Val

Select item 138753610315.

rs1387536103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:158854 (GRCh38)
20:139495 (GRCh37)
Canonical SPDI:: NC_000020.11:158853:G:A
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.158854G>A, NC_000020.10:g.139495G>A, NM_139074.4:c.130G>A, NM_139074.3:c.130G>A, NP_620713.1:p.Glu44Lys

Select item 138240305416.

rs1382403054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:159002 (GRCh38)
20:139643 (GRCh37)
Canonical SPDI:: NC_000020.11:159001:G:A
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.159002G>A, NC_000020.10:g.139643G>A, NM_139074.4:c.278G>A, NM_139074.3:c.278G>A, NP_620713.1:p.Ser93Asn

Select item 137552275617.

rs1375522756 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:158913 (GRCh38)
20:139555 (GRCh37)
Canonical SPDI:: NC_000020.11:158913:AAAAAAA:AAAAAAAA
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: A=0.00007/1 (TOMMO)
HGVS:: NC_000020.11:g.158920dup, NC_000020.10:g.139561dup, NM_139074.4:c.196dup, NM_139074.3:c.196dup, NP_620713.1:p.Ile66fs

Select item 135679491218.

rs1356794912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:158829 (GRCh38)
20:139470 (GRCh37)
Canonical SPDI:: NC_000020.11:158828:A:G
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.158829A>G, NC_000020.10:g.139470A>G, NM_139074.4:c.105A>G, NM_139074.3:c.105A>G

Select item 135570201319.

rs1355702013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:158807 (GRCh38)
20:139448 (GRCh37)
Canonical SPDI:: NC_000020.11:158806:A:G
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.158807A>G, NC_000020.10:g.139448A>G, NM_139074.4:c.83A>G, NM_139074.3:c.83A>G, NP_620713.1:p.Tyr28Cys

Select item 135443681920.

rs1354436819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:158928 (GRCh38)
20:139569 (GRCh37)
Canonical SPDI:: NC_000020.11:158927:G:A,NC_000020.11:158927:G:T
Gene:: DEFB127 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
HGVS:: NC_000020.11:g.158928G>A, NC_000020.11:g.158928G>T, NC_000020.10:g.139569G>A, NC_000020.10:g.139569G>T, NM_139074.4:c.204G>A, NM_139074.4:c.204G>T, NM_139074.3:c.204G>A, NM_139074.3:c.204G>T, NP_620713.1:p.Lys68Asn

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