SNP Links for Protein (Select 29501809) - SNP

Links from Protein

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Select item 14906065711.

rs1490606571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:21636809 (GRCh38)
22:21991098 (GRCh37)
Canonical SPDI:: NC_000022.11:21636808:G:A,NC_000022.11:21636808:G:C
Gene:: CCDC116 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.21636809G>A, NC_000022.11:g.21636809G>C, NC_000022.10:g.21991098G>A, NC_000022.10:g.21991098G>C, XM_006724159.3:c.1779G>A, XM_006724159.3:c.1779G>C, XM_006724159.2:c.1779G>A, XM_006724159.2:c.1779G>C, XM_006724159.1:c.1779G>A, XM_006724159.1:c.1779G>C, NM_152612.3:c.1581G>A, NM_152612.3:c.1581G>C, NM_152612.2:c.1581G>A, NM_152612.2:c.1581G>C, XM_011529984.3:c.1476G>A, XM_011529984.3:c.1476G>C, XM_011529984.2:c.1476G>A, XM_011529984.2:c.1476G>C, XM_011529984.1:c.1476G>A, XM_011529984.1:c.1476G>C, XM_011529985.2:c.1197G>A, XM_011529985.2:c.1197G>C, XM_011529985.1:c.1197G>A, XM_011529985.1:c.1197G>C, XM_047441169.1:c.*397G>A, XM_047441169.1:c.*397G>C, XP_006724222.1:p.Gln593His, NP_689825.2:p.Gln527His, XP_011528286.1:p.Gln492His, XP_011528287.1:p.Gln399His

Select item 14901003592.

rs1490100359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:21636648 (GRCh38)
22:21990937 (GRCh37)
Canonical SPDI:: NC_000022.11:21636647:G:A,NC_000022.11:21636647:G:C
Gene:: CCDC116 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.21636648G>A, NC_000022.11:g.21636648G>C, NC_000022.10:g.21990937G>A, NC_000022.10:g.21990937G>C, XM_006724159.3:c.1618G>A, XM_006724159.3:c.1618G>C, XM_006724159.2:c.1618G>A, XM_006724159.2:c.1618G>C, XM_006724159.1:c.1618G>A, XM_006724159.1:c.1618G>C, NM_152612.3:c.1420G>A, NM_152612.3:c.1420G>C, NM_152612.2:c.1420G>A, NM_152612.2:c.1420G>C, XM_011529984.3:c.1315G>A, XM_011529984.3:c.1315G>C, XM_011529984.2:c.1315G>A, XM_011529984.2:c.1315G>C, XM_011529984.1:c.1315G>A, XM_011529984.1:c.1315G>C, XM_011529985.2:c.1036G>A, XM_011529985.2:c.1036G>C, XM_011529985.1:c.1036G>A, XM_011529985.1:c.1036G>C, XM_047441169.1:c.*236G>A, XM_047441169.1:c.*236G>C, XP_006724222.1:p.Asp540Asn, XP_006724222.1:p.Asp540His, NP_689825.2:p.Asp474Asn, NP_689825.2:p.Asp474His, XP_011528286.1:p.Asp439Asn, XP_011528286.1:p.Asp439His, XP_011528287.1:p.Asp346Asn, XP_011528287.1:p.Asp346His

Select item 14898202483.

rs1489820248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21635176 (GRCh38)
22:21989465 (GRCh37)
Canonical SPDI:: NC_000022.11:21635175:C:T
Gene:: CCDC116 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21635176C>T, NC_000022.10:g.21989465C>T, XM_006724159.3:c.1311C>T, XM_006724159.2:c.1311C>T, XM_006724159.1:c.1311C>T, NM_152612.3:c.1113C>T, NM_152612.2:c.1113C>T, XM_011529984.3:c.1008C>T, XM_011529984.2:c.1008C>T, XM_011529984.1:c.1008C>T, NM_001331066.2:c.1113C>T, NM_001331066.1:c.1113C>T, XM_047441169.1:c.1311C>T

Select item 14876225534.

rs1487622553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:21634997 (GRCh38)
22:21989286 (GRCh37)
Canonical SPDI:: NC_000022.11:21634996:G:T
Gene:: CCDC116 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21634997G>T, NC_000022.10:g.21989286G>T, XM_006724159.3:c.1132G>T, XM_006724159.2:c.1132G>T, XM_006724159.1:c.1132G>T, NM_152612.3:c.934G>T, NM_152612.2:c.934G>T, XM_011529984.3:c.829G>T, XM_011529984.2:c.829G>T, XM_011529984.1:c.829G>T, NM_001331066.2:c.934G>T, NM_001331066.1:c.934G>T, XM_047441169.1:c.1132G>T, XP_006724222.1:p.Ala378Ser, NP_689825.2:p.Ala312Ser, XP_011528286.1:p.Ala277Ser, NP_001317995.1:p.Ala312Ser, XP_047297125.1:p.Ala378Ser

Select item 14859278555.

rs1485927855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21634039 (GRCh38)
22:21988328 (GRCh37)
Canonical SPDI:: NC_000022.11:21634038:G:A
Gene:: CCDC116 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21634039G>A, NC_000022.10:g.21988328G>A, XM_006724159.3:c.288G>A, XM_006724159.2:c.288G>A, XM_006724159.1:c.288G>A, NM_152612.3:c.90G>A, NM_152612.2:c.90G>A, XM_011529984.3:c.-16G>A, XM_011529984.2:c.-16G>A, XM_011529984.1:c.-16G>A, NM_001331066.2:c.90G>A, NM_001331066.1:c.90G>A, XM_011529985.2:c.288G>A, XM_011529985.1:c.288G>A, XM_047441169.1:c.288G>A

Select item 14854812456.

rs1485481245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21633207 (GRCh38)
22:21987496 (GRCh37)
Canonical SPDI:: NC_000022.11:21633206:G:A
Gene:: CCDC116 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.21633207G>A, NC_000022.10:g.21987496G>A, XM_006724159.3:c.224G>A, XM_006724159.2:c.224G>A, XM_006724159.1:c.224G>A, NM_152612.3:c.26G>A, NM_152612.2:c.26G>A, NM_001331066.2:c.26G>A, NM_001331066.1:c.26G>A, XM_011529985.2:c.224G>A, XM_011529985.1:c.224G>A, XM_047441169.1:c.224G>A, XP_006724222.1:p.Gly75Asp, NP_689825.2:p.Gly9Asp, NP_001317995.1:p.Gly9Asp, XP_011528287.1:p.Gly75Asp, XP_047297125.1:p.Gly75Asp

Select item 14823757897.

rs1482375789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21634720 (GRCh38)
22:21989009 (GRCh37)
Canonical SPDI:: NC_000022.11:21634719:C:T
Gene:: CCDC116 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21634720C>T, NC_000022.10:g.21989009C>T, XM_006724159.3:c.855C>T, XM_006724159.2:c.855C>T, XM_006724159.1:c.855C>T, NM_152612.3:c.657C>T, NM_152612.2:c.657C>T, XM_011529984.3:c.552C>T, XM_011529984.2:c.552C>T, XM_011529984.1:c.552C>T, NM_001331066.2:c.657C>T, NM_001331066.1:c.657C>T, XM_047441169.1:c.855C>T

Select item 14811709938.

rs1481170993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21634465 (GRCh38)
22:21988754 (GRCh37)
Canonical SPDI:: NC_000022.11:21634464:C:T
Gene:: CCDC116 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.21634465C>T, NC_000022.10:g.21988754C>T, XM_006724159.3:c.714C>T, XM_006724159.2:c.714C>T, XM_006724159.1:c.714C>T, NM_152612.3:c.516C>T, NM_152612.2:c.516C>T, XM_011529984.3:c.411C>T, XM_011529984.2:c.411C>T, XM_011529984.1:c.411C>T, NM_001331066.2:c.516C>T, NM_001331066.1:c.516C>T, XM_011529985.2:c.714C>T, XM_011529985.1:c.714C>T, XM_047441169.1:c.714C>T

Select item 14802737529.

rs1480273752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:21636756 (GRCh38)
22:21991045 (GRCh37)
Canonical SPDI:: NC_000022.11:21636755:C:A,NC_000022.11:21636755:C:T
Gene:: CCDC116 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.21636756C>A, NC_000022.11:g.21636756C>T, NC_000022.10:g.21991045C>A, NC_000022.10:g.21991045C>T, XM_006724159.3:c.1726C>A, XM_006724159.3:c.1726C>T, XM_006724159.2:c.1726C>A, XM_006724159.2:c.1726C>T, XM_006724159.1:c.1726C>A, XM_006724159.1:c.1726C>T, NM_152612.3:c.1528C>A, NM_152612.3:c.1528C>T, NM_152612.2:c.1528C>A, NM_152612.2:c.1528C>T, XM_011529984.3:c.1423C>A, XM_011529984.3:c.1423C>T, XM_011529984.2:c.1423C>A, XM_011529984.2:c.1423C>T, XM_011529984.1:c.1423C>A, XM_011529984.1:c.1423C>T, XM_011529985.2:c.1144C>A, XM_011529985.2:c.1144C>T, XM_011529985.1:c.1144C>A, XM_011529985.1:c.1144C>T, XM_047441169.1:c.*344C>A, XM_047441169.1:c.*344C>T, XP_006724222.1:p.Gln576Lys, XP_006724222.1:p.Gln576Ter, NP_689825.2:p.Gln510Lys, NP_689825.2:p.Gln510Ter, XP_011528286.1:p.Gln475Lys, XP_011528286.1:p.Gln475Ter, XP_011528287.1:p.Gln382Lys, XP_011528287.1:p.Gln382Ter

Select item 147921812010.

rs1479218120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:21636958 (GRCh38)
22:21991247 (GRCh37)
Canonical SPDI:: NC_000022.11:21636957:A:C,NC_000022.11:21636957:A:G
Gene:: CCDC116 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000116/3 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.21636958A>C, NC_000022.11:g.21636958A>G, NC_000022.10:g.21991247A>C, NC_000022.10:g.21991247A>G, XM_006724159.3:c.1928A>C, XM_006724159.3:c.1928A>G, XM_006724159.2:c.1928A>C, XM_006724159.2:c.1928A>G, XM_006724159.1:c.1928A>C, XM_006724159.1:c.1928A>G, NM_152612.3:c.1730A>C, NM_152612.3:c.1730A>G, NM_152612.2:c.1730A>C, NM_152612.2:c.1730A>G, XM_011529984.3:c.1625A>C, XM_011529984.3:c.1625A>G, XM_011529984.2:c.1625A>C, XM_011529984.2:c.1625A>G, XM_011529984.1:c.1625A>C, XM_011529984.1:c.1625A>G, XM_011529985.2:c.1346A>C, XM_011529985.2:c.1346A>G, XM_011529985.1:c.1346A>C, XM_011529985.1:c.1346A>G, XM_047441169.1:c.*546A>C, XM_047441169.1:c.*546A>G, XP_006724222.1:p.Lys643Thr, XP_006724222.1:p.Lys643Arg, NP_689825.2:p.Lys577Thr, NP_689825.2:p.Lys577Arg, XP_011528286.1:p.Lys542Thr, XP_011528286.1:p.Lys542Arg, XP_011528287.1:p.Lys449Thr, XP_011528287.1:p.Lys449Arg

Select item 147736839011.

rs1477368390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:21635180 (GRCh38)
22:21989469 (GRCh37)
Canonical SPDI:: NC_000022.11:21635179:C:A
Gene:: CCDC116 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21635180C>A, NC_000022.10:g.21989469C>A, XM_006724159.3:c.1315C>A, XM_006724159.2:c.1315C>A, XM_006724159.1:c.1315C>A, NM_152612.3:c.1117C>A, NM_152612.2:c.1117C>A, XM_011529984.3:c.1012C>A, XM_011529984.2:c.1012C>A, XM_011529984.1:c.1012C>A, NM_001331066.2:c.1117C>A, NM_001331066.1:c.1117C>A, XM_047441169.1:c.1315C>A, XP_006724222.1:p.Pro439Thr, NP_689825.2:p.Pro373Thr, XP_011528286.1:p.Pro338Thr, NP_001317995.1:p.Pro373Thr, XP_047297125.1:p.Pro439Thr

Select item 147715065112.

rs1477150651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:21634287 (GRCh38)
22:21988576 (GRCh37)
Canonical SPDI:: NC_000022.11:21634286:A:G
Gene:: CCDC116 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21634287A>G, NC_000022.10:g.21988576A>G, XM_006724159.3:c.536A>G, XM_006724159.2:c.536A>G, XM_006724159.1:c.536A>G, NM_152612.3:c.338A>G, NM_152612.2:c.338A>G, XM_011529984.3:c.233A>G, XM_011529984.2:c.233A>G, XM_011529984.1:c.233A>G, NM_001331066.2:c.338A>G, NM_001331066.1:c.338A>G, XM_011529985.2:c.536A>G, XM_011529985.1:c.536A>G, XM_047441169.1:c.536A>G, XP_006724222.1:p.Asp179Gly, NP_689825.2:p.Asp113Gly, XP_011528286.1:p.Asp78Gly, NP_001317995.1:p.Asp113Gly, XP_011528287.1:p.Asp179Gly, XP_047297125.1:p.Asp179Gly

Select item 147703863713.

rs1477038637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21634953 (GRCh38)
22:21989242 (GRCh37)
Canonical SPDI:: NC_000022.11:21634952:C:T
Gene:: CCDC116 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.21634953C>T, NC_000022.10:g.21989242C>T, XM_006724159.3:c.1088C>T, XM_006724159.2:c.1088C>T, XM_006724159.1:c.1088C>T, NM_152612.3:c.890C>T, NM_152612.2:c.890C>T, XM_011529984.3:c.785C>T, XM_011529984.2:c.785C>T, XM_011529984.1:c.785C>T, NM_001331066.2:c.890C>T, NM_001331066.1:c.890C>T, XM_047441169.1:c.1088C>T, XP_006724222.1:p.Pro363Leu, NP_689825.2:p.Pro297Leu, XP_011528286.1:p.Pro262Leu, NP_001317995.1:p.Pro297Leu, XP_047297125.1:p.Pro363Leu

Select item 147524615714.

rs1475246157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:21636445 (GRCh38)
22:21990734 (GRCh37)
Canonical SPDI:: NC_000022.11:21636444:G:A
Gene:: CCDC116 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000022.11:g.21636445G>A, NC_000022.10:g.21990734G>A, XM_006724159.3:c.1415G>A, XM_006724159.2:c.1415G>A, XM_006724159.1:c.1415G>A, NM_152612.3:c.1217G>A, NM_152612.2:c.1217G>A, XM_011529984.3:c.1112G>A, XM_011529984.2:c.1112G>A, XM_011529984.1:c.1112G>A, XM_011529985.2:c.833G>A, XM_011529985.1:c.833G>A, XM_047441169.1:c.*33G>A, XP_006724222.1:p.Ser472Asn, NP_689825.2:p.Ser406Asn, XP_011528286.1:p.Ser371Asn, XP_011528287.1:p.Ser278Asn

Select item 147412558215.

rs1474125582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:21636891 (GRCh38)
22:21991180 (GRCh37)
Canonical SPDI:: NC_000022.11:21636890:C:G,NC_000022.11:21636890:C:T
Gene:: CCDC116 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21636891C>G, NC_000022.11:g.21636891C>T, NC_000022.10:g.21991180C>G, NC_000022.10:g.21991180C>T, XM_006724159.3:c.1861C>G, XM_006724159.3:c.1861C>T, XM_006724159.2:c.1861C>G, XM_006724159.2:c.1861C>T, XM_006724159.1:c.1861C>G, XM_006724159.1:c.1861C>T, NM_152612.3:c.1663C>G, NM_152612.3:c.1663C>T, NM_152612.2:c.1663C>G, NM_152612.2:c.1663C>T, XM_011529984.3:c.1558C>G, XM_011529984.3:c.1558C>T, XM_011529984.2:c.1558C>G, XM_011529984.2:c.1558C>T, XM_011529984.1:c.1558C>G, XM_011529984.1:c.1558C>T, XM_011529985.2:c.1279C>G, XM_011529985.2:c.1279C>T, XM_011529985.1:c.1279C>G, XM_011529985.1:c.1279C>T, XM_047441169.1:c.*479C>G, XM_047441169.1:c.*479C>T, XP_006724222.1:p.Gln621Glu, XP_006724222.1:p.Gln621Ter, NP_689825.2:p.Gln555Glu, NP_689825.2:p.Gln555Ter, XP_011528286.1:p.Gln520Glu, XP_011528286.1:p.Gln520Ter, XP_011528287.1:p.Gln427Glu, XP_011528287.1:p.Gln427Ter

Select item 147227328216.

rs1472273282 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21634962 (GRCh38)
22:21989251 (GRCh37)
Canonical SPDI:: NC_000022.11:21634961:C:T
Gene:: CCDC116 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000264/4 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.000893/4 (Estonian)
HGVS:: NC_000022.11:g.21634962C>T, NC_000022.10:g.21989251C>T, XM_006724159.3:c.1097C>T, XM_006724159.2:c.1097C>T, XM_006724159.1:c.1097C>T, NM_152612.3:c.899C>T, NM_152612.2:c.899C>T, XM_011529984.3:c.794C>T, XM_011529984.2:c.794C>T, XM_011529984.1:c.794C>T, NM_001331066.2:c.899C>T, NM_001331066.1:c.899C>T, XM_047441169.1:c.1097C>T, XP_006724222.1:p.Thr366Met, NP_689825.2:p.Thr300Met, XP_011528286.1:p.Thr265Met, NP_001317995.1:p.Thr300Met, XP_047297125.1:p.Thr366Met

Select item 147104603317.

rs1471046033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 22:21634054 (GRCh38)
22:21988343 (GRCh37)
Canonical SPDI:: NC_000022.11:21634053:A:T
Gene:: CCDC116 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21634054A>T, NC_000022.10:g.21988343A>T, XM_006724159.3:c.303A>T, XM_006724159.2:c.303A>T, XM_006724159.1:c.303A>T, NM_152612.3:c.105A>T, NM_152612.2:c.105A>T, XM_011529984.3:c.-1A>T, XM_011529984.2:c.-1A>T, XM_011529984.1:c.-1A>T, NM_001331066.2:c.105A>T, NM_001331066.1:c.105A>T, XM_011529985.2:c.303A>T, XM_011529985.1:c.303A>T, XM_047441169.1:c.303A>T, XP_006724222.1:p.Glu101Asp, NP_689825.2:p.Glu35Asp, NP_001317995.1:p.Glu35Asp, XP_011528287.1:p.Glu101Asp, XP_047297125.1:p.Glu101Asp

Select item 147010914918.

rs1470109149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:21633247 (GRCh38)
22:21987536 (GRCh37)
Canonical SPDI:: NC_000022.11:21633246:T:C
Gene:: CCDC116 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000006/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.21633247T>C, NC_000022.10:g.21987536T>C, XM_006724159.3:c.264T>C, XM_006724159.2:c.264T>C, XM_006724159.1:c.264T>C, NM_152612.3:c.66T>C, NM_152612.2:c.66T>C, NM_001331066.2:c.66T>C, NM_001331066.1:c.66T>C, XM_011529985.2:c.264T>C, XM_011529985.1:c.264T>C, XM_047441169.1:c.264T>C

Select item 146999868319.

rs1469998683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:21636696 (GRCh38)
22:21990985 (GRCh37)
Canonical SPDI:: NC_000022.11:21636695:T:A
Gene:: CCDC116 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.21636696T>A, NC_000022.10:g.21990985T>A, XM_006724159.3:c.1666T>A, XM_006724159.2:c.1666T>A, XM_006724159.1:c.1666T>A, NM_152612.3:c.1468T>A, NM_152612.2:c.1468T>A, XM_011529984.3:c.1363T>A, XM_011529984.2:c.1363T>A, XM_011529984.1:c.1363T>A, XM_011529985.2:c.1084T>A, XM_011529985.1:c.1084T>A, XM_047441169.1:c.*284T>A, XP_006724222.1:p.Ser556Thr, NP_689825.2:p.Ser490Thr, XP_011528286.1:p.Ser455Thr, XP_011528287.1:p.Ser362Thr

Select item 146963397120.

rs1469633971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:21636853 (GRCh38)
22:21991142 (GRCh37)
Canonical SPDI:: NC_000022.11:21636852:C:T
Gene:: CCDC116 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.21636853C>T, NC_000022.10:g.21991142C>T, XM_006724159.3:c.1823C>T, XM_006724159.2:c.1823C>T, XM_006724159.1:c.1823C>T, NM_152612.3:c.1625C>T, NM_152612.2:c.1625C>T, XM_011529984.3:c.1520C>T, XM_011529984.2:c.1520C>T, XM_011529984.1:c.1520C>T, XM_011529985.2:c.1241C>T, XM_011529985.1:c.1241C>T, XM_047441169.1:c.*441C>T, XP_006724222.1:p.Pro608Leu, NP_689825.2:p.Pro542Leu, XP_011528286.1:p.Pro507Leu, XP_011528287.1:p.Pro414Leu

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