SNP Links for Protein (Select 18959210) - SNP

Select item 14892604641.

rs1489260464 [Homo sapiens]

Variant type:: DEL
Alleles:: AGGGCGGCGTGCCAACGCA>- [Show Flanks]
Chromosome:: 17:40264722 (GRCh38)
17:38420974 (GRCh37)
Canonical SPDI:: NC_000017.11:40264721:AGGGCGGCGTGCCAACGCA:
Gene:: WIPF2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.40264722_40264740del, NC_000017.10:g.38420974_38420992del, NM_133264.5:c.546_564del, NM_133264.4:c.546_564del, XM_005257084.3:c.546_564del, XM_005257084.2:c.546_564del, XM_005257084.1:c.546_564del, XM_005257083.3:c.546_564del, XM_005257083.2:c.546_564del, XM_005257083.1:c.546_564del, XM_047435496.1:c.546_564del, XM_047435498.1:c.429_447del, XM_047435499.1:c.429_447del, XM_047435500.1:c.96_114del, XM_011524412.1:c.429_447del, XM_047435497.1:c.546_564del, NP_573571.1:p.Gly183fs, XP_005257141.1:p.Gly183fs, XP_005257140.1:p.Gly183fs, XP_047291452.1:p.Gly183fs, XP_047291454.1:p.Gly144fs, XP_047291455.1:p.Gly144fs, XP_047291456.1:p.Gly33fs, XP_011522714.1:p.Gly144fs, XP_047291453.1:p.Gly183fs

Select item 14888631772.

rs1488863177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40264513 (GRCh38)
17:38420765 (GRCh37)
Canonical SPDI:: NC_000017.11:40264512:C:T
Gene:: WIPF2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40264513C>T, NC_000017.10:g.38420765C>T, NM_133264.5:c.337C>T, NM_133264.4:c.337C>T, XM_005257084.3:c.337C>T, XM_005257084.2:c.337C>T, XM_005257084.1:c.337C>T, XM_005257083.3:c.337C>T, XM_005257083.2:c.337C>T, XM_005257083.1:c.337C>T, XM_047435496.1:c.337C>T, XM_047435498.1:c.220C>T, XM_047435499.1:c.220C>T, XM_047435500.1:c.-114C>T, XM_011524412.1:c.220C>T, XM_047435497.1:c.337C>T

Select item 14875749253.

rs1487574925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40256522 (GRCh38)
17:38412774 (GRCh37)
Canonical SPDI:: NC_000017.11:40256521:G:A
Gene:: WIPF2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40256522G>A, NC_000017.10:g.38412774G>A, NM_133264.5:c.63G>A, NM_133264.4:c.63G>A, XM_005257084.3:c.63G>A, XM_005257084.2:c.63G>A, XM_005257084.1:c.63G>A, XM_005257083.3:c.63G>A, XM_005257083.2:c.63G>A, XM_005257083.1:c.63G>A, XM_047435496.1:c.63G>A, XM_047435498.1:c.63G>A, XM_047435499.1:c.63G>A, XM_047435500.1:c.-255G>A, XM_011524412.1:c.63G>A, XM_047435497.1:c.63G>A

Select item 14854084024.

rs1485408402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:40264757 (GRCh38)
17:38421009 (GRCh37)
Canonical SPDI:: NC_000017.11:40264756:C:A,NC_000017.11:40264756:C:G
Gene:: WIPF2 (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)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40264757C>A, NC_000017.11:g.40264757C>G, NC_000017.10:g.38421009C>A, NC_000017.10:g.38421009C>G, NM_133264.5:c.581C>A, NM_133264.5:c.581C>G, NM_133264.4:c.581C>A, NM_133264.4:c.581C>G, XM_005257084.3:c.581C>A, XM_005257084.3:c.581C>G, XM_005257084.2:c.581C>A, XM_005257084.2:c.581C>G, XM_005257084.1:c.581C>A, XM_005257084.1:c.581C>G, XM_005257083.3:c.581C>A, XM_005257083.3:c.581C>G, XM_005257083.2:c.581C>A, XM_005257083.2:c.581C>G, XM_005257083.1:c.581C>A, XM_005257083.1:c.581C>G, XM_047435496.1:c.581C>A, XM_047435496.1:c.581C>G, XM_047435498.1:c.464C>A, XM_047435498.1:c.464C>G, XM_047435499.1:c.464C>A, XM_047435499.1:c.464C>G, XM_047435500.1:c.131C>A, XM_047435500.1:c.131C>G, XM_011524412.1:c.464C>A, XM_011524412.1:c.464C>G, XM_047435497.1:c.581C>A, XM_047435497.1:c.581C>G, NP_573571.1:p.Pro194His, NP_573571.1:p.Pro194Arg, XP_005257141.1:p.Pro194His, XP_005257141.1:p.Pro194Arg, XP_005257140.1:p.Pro194His, XP_005257140.1:p.Pro194Arg, XP_047291452.1:p.Pro194His, XP_047291452.1:p.Pro194Arg, XP_047291454.1:p.Pro155His, XP_047291454.1:p.Pro155Arg, XP_047291455.1:p.Pro155His, XP_047291455.1:p.Pro155Arg, XP_047291456.1:p.Pro44His, XP_047291456.1:p.Pro44Arg, XP_011522714.1:p.Pro155His, XP_011522714.1:p.Pro155Arg, XP_047291453.1:p.Pro194His, XP_047291453.1:p.Pro194Arg

Select item 14834169515.

rs1483416951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40264637 (GRCh38)
17:38420889 (GRCh37)
Canonical SPDI:: NC_000017.11:40264636:C:T
Gene:: WIPF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40264637C>T, NC_000017.10:g.38420889C>T, NM_133264.5:c.461C>T, NM_133264.4:c.461C>T, XM_005257084.3:c.461C>T, XM_005257084.2:c.461C>T, XM_005257084.1:c.461C>T, XM_005257083.3:c.461C>T, XM_005257083.2:c.461C>T, XM_005257083.1:c.461C>T, XM_047435496.1:c.461C>T, XM_047435498.1:c.344C>T, XM_047435499.1:c.344C>T, XM_047435500.1:c.11C>T, XM_011524412.1:c.344C>T, XM_047435497.1:c.461C>T, NP_573571.1:p.Pro154Leu, XP_005257141.1:p.Pro154Leu, XP_005257140.1:p.Pro154Leu, XP_047291452.1:p.Pro154Leu, XP_047291454.1:p.Pro115Leu, XP_047291455.1:p.Pro115Leu, XP_047291456.1:p.Pro4Leu, XP_011522714.1:p.Pro115Leu, XP_047291453.1:p.Pro154Leu

Select item 14823546726.

rs1482354672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40264681 (GRCh38)
17:38420933 (GRCh37)
Canonical SPDI:: NC_000017.11:40264680:G:A
Gene:: WIPF2 (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_000017.11:g.40264681G>A, NC_000017.10:g.38420933G>A, NM_133264.5:c.505G>A, NM_133264.4:c.505G>A, XM_005257084.3:c.505G>A, XM_005257084.2:c.505G>A, XM_005257084.1:c.505G>A, XM_005257083.3:c.505G>A, XM_005257083.2:c.505G>A, XM_005257083.1:c.505G>A, XM_047435496.1:c.505G>A, XM_047435498.1:c.388G>A, XM_047435499.1:c.388G>A, XM_047435500.1:c.55G>A, XM_011524412.1:c.388G>A, XM_047435497.1:c.505G>A, NP_573571.1:p.Gly169Ser, XP_005257141.1:p.Gly169Ser, XP_005257140.1:p.Gly169Ser, XP_047291452.1:p.Gly169Ser, XP_047291454.1:p.Gly130Ser, XP_047291455.1:p.Gly130Ser, XP_047291456.1:p.Gly19Ser, XP_011522714.1:p.Gly130Ser, XP_047291453.1:p.Gly169Ser

Select item 14784608587.

rs1478460858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40265029 (GRCh38)
17:38421281 (GRCh37)
Canonical SPDI:: NC_000017.11:40265028:A:G
Gene:: WIPF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40265029A>G, NC_000017.10:g.38421281A>G, NM_133264.5:c.853A>G, NM_133264.4:c.853A>G, XM_005257084.3:c.853A>G, XM_005257084.2:c.853A>G, XM_005257084.1:c.853A>G, XM_005257083.3:c.853A>G, XM_005257083.2:c.853A>G, XM_005257083.1:c.853A>G, XM_047435496.1:c.853A>G, XM_047435498.1:c.736A>G, XM_047435499.1:c.736A>G, XM_047435500.1:c.403A>G, XM_011524412.1:c.736A>G, XM_047435497.1:c.853A>G, NP_573571.1:p.Arg285Gly, XP_005257141.1:p.Arg285Gly, XP_005257140.1:p.Arg285Gly, XP_047291452.1:p.Arg285Gly, XP_047291454.1:p.Arg246Gly, XP_047291455.1:p.Arg246Gly, XP_047291456.1:p.Arg135Gly, XP_011522714.1:p.Arg246Gly, XP_047291453.1:p.Arg285Gly

Select item 14775482408.

rs1477548240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40262630 (GRCh38)
17:38418882 (GRCh37)
Canonical SPDI:: NC_000017.11:40262629:A:G
Gene:: WIPF2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40262630A>G, NC_000017.10:g.38418882A>G, NM_133264.5:c.302A>G, NM_133264.4:c.302A>G, XM_005257084.3:c.302A>G, XM_005257084.2:c.302A>G, XM_005257084.1:c.302A>G, XM_005257083.3:c.302A>G, XM_005257083.2:c.302A>G, XM_005257083.1:c.302A>G, XM_047435496.1:c.302A>G, XM_047435500.1:c.-149A>G, XM_047435497.1:c.302A>G, NP_573571.1:p.Lys101Arg, XP_005257141.1:p.Lys101Arg, XP_005257140.1:p.Lys101Arg, XP_047291452.1:p.Lys101Arg, XP_047291453.1:p.Lys101Arg

Select item 14774991619.

rs1477499161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:40265021 (GRCh38)
17:38421273 (GRCh37)
Canonical SPDI:: NC_000017.11:40265020:C:A,NC_000017.11:40265020:C:T
Gene:: WIPF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40265021C>A, NC_000017.11:g.40265021C>T, NC_000017.10:g.38421273C>A, NC_000017.10:g.38421273C>T, NM_133264.5:c.845C>A, NM_133264.5:c.845C>T, NM_133264.4:c.845C>A, NM_133264.4:c.845C>T, XM_005257084.3:c.845C>A, XM_005257084.3:c.845C>T, XM_005257084.2:c.845C>A, XM_005257084.2:c.845C>T, XM_005257084.1:c.845C>A, XM_005257084.1:c.845C>T, XM_005257083.3:c.845C>A, XM_005257083.3:c.845C>T, XM_005257083.2:c.845C>A, XM_005257083.2:c.845C>T, XM_005257083.1:c.845C>A, XM_005257083.1:c.845C>T, XM_047435496.1:c.845C>A, XM_047435496.1:c.845C>T, XM_047435498.1:c.728C>A, XM_047435498.1:c.728C>T, XM_047435499.1:c.728C>A, XM_047435499.1:c.728C>T, XM_047435500.1:c.395C>A, XM_047435500.1:c.395C>T, XM_011524412.1:c.728C>A, XM_011524412.1:c.728C>T, XM_047435497.1:c.845C>A, XM_047435497.1:c.845C>T, NP_573571.1:p.Ser282Tyr, NP_573571.1:p.Ser282Phe, XP_005257141.1:p.Ser282Tyr, XP_005257141.1:p.Ser282Phe, XP_005257140.1:p.Ser282Tyr, XP_005257140.1:p.Ser282Phe, XP_047291452.1:p.Ser282Tyr, XP_047291452.1:p.Ser282Phe, XP_047291454.1:p.Ser243Tyr, XP_047291454.1:p.Ser243Phe, XP_047291455.1:p.Ser243Tyr, XP_047291455.1:p.Ser243Phe, XP_047291456.1:p.Ser132Tyr, XP_047291456.1:p.Ser132Phe, XP_011522714.1:p.Ser243Tyr, XP_011522714.1:p.Ser243Phe, XP_047291453.1:p.Ser282Tyr, XP_047291453.1:p.Ser282Phe

Select item 147519137210.

rs1475191372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40277175 (GRCh38)
17:38433427 (GRCh37)
Canonical SPDI:: NC_000017.11:40277174:A:G
Gene:: WIPF2 (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=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40277175A>G, NC_000017.10:g.38433427A>G, NM_133264.5:c.1273A>G, NM_133264.4:c.1273A>G, XM_005257084.3:c.1273A>G, XM_005257084.2:c.1273A>G, XM_005257084.1:c.1273A>G, XM_005257083.3:c.1273A>G, XM_005257083.2:c.1273A>G, XM_005257083.1:c.1273A>G, XM_047435496.1:c.1273A>G, XM_047435498.1:c.1156A>G, XM_047435499.1:c.1156A>G, XM_047435500.1:c.823A>G, XM_011524412.1:c.1156A>G, XM_047435497.1:c.1273A>G, NP_573571.1:p.Thr425Ala, XP_005257141.1:p.Thr425Ala, XP_005257140.1:p.Thr425Ala, XP_047291452.1:p.Thr425Ala, XP_047291454.1:p.Thr386Ala, XP_047291455.1:p.Thr386Ala, XP_047291456.1:p.Thr275Ala, XP_011522714.1:p.Thr386Ala, XP_047291453.1:p.Thr425Ala

Select item 147513772711.

rs1475137727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40264851 (GRCh38)
17:38421103 (GRCh37)
Canonical SPDI:: NC_000017.11:40264850:T:C
Gene:: WIPF2 (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.40264851T>C, NC_000017.10:g.38421103T>C, NM_133264.5:c.675T>C, NM_133264.4:c.675T>C, XM_005257084.3:c.675T>C, XM_005257084.2:c.675T>C, XM_005257084.1:c.675T>C, XM_005257083.3:c.675T>C, XM_005257083.2:c.675T>C, XM_005257083.1:c.675T>C, XM_047435496.1:c.675T>C, XM_047435498.1:c.558T>C, XM_047435499.1:c.558T>C, XM_047435500.1:c.225T>C, XM_011524412.1:c.558T>C, XM_047435497.1:c.675T>C

Select item 147416833512.

rs1474168335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40264541 (GRCh38)
17:38420793 (GRCh37)
Canonical SPDI:: NC_000017.11:40264540:C:T
Gene:: WIPF2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_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.40264541C>T, NC_000017.10:g.38420793C>T, NM_133264.5:c.365C>T, NM_133264.4:c.365C>T, XM_005257084.3:c.365C>T, XM_005257084.2:c.365C>T, XM_005257084.1:c.365C>T, XM_005257083.3:c.365C>T, XM_005257083.2:c.365C>T, XM_005257083.1:c.365C>T, XM_047435496.1:c.365C>T, XM_047435498.1:c.248C>T, XM_047435499.1:c.248C>T, XM_047435500.1:c.-86C>T, XM_011524412.1:c.248C>T, XM_047435497.1:c.365C>T, NP_573571.1:p.Ala122Val, XP_005257141.1:p.Ala122Val, XP_005257140.1:p.Ala122Val, XP_047291452.1:p.Ala122Val, XP_047291454.1:p.Ala83Val, XP_047291455.1:p.Ala83Val, XP_011522714.1:p.Ala83Val, XP_047291453.1:p.Ala122Val

Select item 147081210613.

rs1470812106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40273843 (GRCh38)
17:38430095 (GRCh37)
Canonical SPDI:: NC_000017.11:40273842:C:T
Gene:: WIPF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40273843C>T, NC_000017.10:g.38430095C>T, NM_133264.5:c.1024C>T, NM_133264.4:c.1024C>T, XM_005257084.3:c.1024C>T, XM_005257084.2:c.1024C>T, XM_005257084.1:c.1024C>T, XM_005257083.3:c.1024C>T, XM_005257083.2:c.1024C>T, XM_005257083.1:c.1024C>T, XM_047435496.1:c.1024C>T, XM_047435498.1:c.907C>T, XM_047435499.1:c.907C>T, XM_047435500.1:c.574C>T, XM_011524412.1:c.907C>T, XM_047435497.1:c.1024C>T, NP_573571.1:p.Pro342Ser, XP_005257141.1:p.Pro342Ser, XP_005257140.1:p.Pro342Ser, XP_047291452.1:p.Pro342Ser, XP_047291454.1:p.Pro303Ser, XP_047291455.1:p.Pro303Ser, XP_047291456.1:p.Pro192Ser, XP_011522714.1:p.Pro303Ser, XP_047291453.1:p.Pro342Ser

Select item 147045909314.

rs1470459093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:40262636 (GRCh38)
17:38418888 (GRCh37)
Canonical SPDI:: NC_000017.11:40262635:G:A,NC_000017.11:40262635:G:T
Gene:: WIPF2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40262636G>A, NC_000017.11:g.40262636G>T, NC_000017.10:g.38418888G>A, NC_000017.10:g.38418888G>T, NM_133264.5:c.308G>A, NM_133264.5:c.308G>T, NM_133264.4:c.308G>A, NM_133264.4:c.308G>T, XM_005257084.3:c.308G>A, XM_005257084.3:c.308G>T, XM_005257084.2:c.308G>A, XM_005257084.2:c.308G>T, XM_005257084.1:c.308G>A, XM_005257084.1:c.308G>T, XM_005257083.3:c.308G>A, XM_005257083.3:c.308G>T, XM_005257083.2:c.308G>A, XM_005257083.2:c.308G>T, XM_005257083.1:c.308G>A, XM_005257083.1:c.308G>T, XM_047435496.1:c.308G>A, XM_047435496.1:c.308G>T, XM_047435500.1:c.-143G>A, XM_047435500.1:c.-143G>T, XM_047435497.1:c.308G>A, XM_047435497.1:c.308G>T, NP_573571.1:p.Gly103Asp, NP_573571.1:p.Gly103Val, XP_005257141.1:p.Gly103Asp, XP_005257141.1:p.Gly103Val, XP_005257140.1:p.Gly103Asp, XP_005257140.1:p.Gly103Val, XP_047291452.1:p.Gly103Asp, XP_047291452.1:p.Gly103Val, XP_047291453.1:p.Gly103Asp, XP_047291453.1:p.Gly103Val

Select item 146624572315.

rs1466245723 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAAAGGCTTCACCCTGG>- [Show Flanks]
Chromosome:: 17:40264818 (GRCh38)
17:38421070 (GRCh37)
Canonical SPDI:: NC_000017.11:40264812:CCTGGACAAAGGCTTCACCCTGG:CCTGG
Gene:: WIPF2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCTGG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40264818_40264835del, NC_000017.10:g.38421070_38421087del, NM_133264.5:c.642_659del, NM_133264.4:c.642_659del, XM_005257084.3:c.642_659del, XM_005257084.2:c.642_659del, XM_005257084.1:c.642_659del, XM_005257083.3:c.642_659del, XM_005257083.2:c.642_659del, XM_005257083.1:c.642_659del, XM_047435496.1:c.642_659del, XM_047435498.1:c.525_542del, XM_047435499.1:c.525_542del, XM_047435500.1:c.192_209del, XM_011524412.1:c.525_542del, XM_047435497.1:c.642_659del, NP_573571.1:p.Gln215_Gly220del, XP_005257141.1:p.Gln215_Gly220del, XP_005257140.1:p.Gln215_Gly220del, XP_047291452.1:p.Gln215_Gly220del, XP_047291454.1:p.Gln176_Gly181del, XP_047291455.1:p.Gln176_Gly181del, XP_047291456.1:p.Gln65_Gly70del, XP_011522714.1:p.Gln176_Gly181del, XP_047291453.1:p.Gln215_Gly220del

Select item 146580170416.

rs1465801704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:40264658 (GRCh38)
17:38420910 (GRCh37)
Canonical SPDI:: NC_000017.11:40264657:G:A,NC_000017.11:40264657:G:C
Gene:: WIPF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.40264658G>A, NC_000017.11:g.40264658G>C, NC_000017.10:g.38420910G>A, NC_000017.10:g.38420910G>C, NM_133264.5:c.482G>A, NM_133264.5:c.482G>C, NM_133264.4:c.482G>A, NM_133264.4:c.482G>C, XM_005257084.3:c.482G>A, XM_005257084.3:c.482G>C, XM_005257084.2:c.482G>A, XM_005257084.2:c.482G>C, XM_005257084.1:c.482G>A, XM_005257084.1:c.482G>C, XM_005257083.3:c.482G>A, XM_005257083.3:c.482G>C, XM_005257083.2:c.482G>A, XM_005257083.2:c.482G>C, XM_005257083.1:c.482G>A, XM_005257083.1:c.482G>C, XM_047435496.1:c.482G>A, XM_047435496.1:c.482G>C, XM_047435498.1:c.365G>A, XM_047435498.1:c.365G>C, XM_047435499.1:c.365G>A, XM_047435499.1:c.365G>C, XM_047435500.1:c.32G>A, XM_047435500.1:c.32G>C, XM_011524412.1:c.365G>A, XM_011524412.1:c.365G>C, XM_047435497.1:c.482G>A, XM_047435497.1:c.482G>C, NP_573571.1:p.Arg161Gln, NP_573571.1:p.Arg161Pro, XP_005257141.1:p.Arg161Gln, XP_005257141.1:p.Arg161Pro, XP_005257140.1:p.Arg161Gln, XP_005257140.1:p.Arg161Pro, XP_047291452.1:p.Arg161Gln, XP_047291452.1:p.Arg161Pro, XP_047291454.1:p.Arg122Gln, XP_047291454.1:p.Arg122Pro, XP_047291455.1:p.Arg122Gln, XP_047291455.1:p.Arg122Pro, XP_047291456.1:p.Arg11Gln, XP_047291456.1:p.Arg11Pro, XP_011522714.1:p.Arg122Gln, XP_011522714.1:p.Arg122Pro, XP_047291453.1:p.Arg161Gln, XP_047291453.1:p.Arg161Pro

Select item 146309882117.

rs1463098821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40260550 (GRCh38)
17:38416802 (GRCh37)
Canonical SPDI:: NC_000017.11:40260549:C:T
Gene:: WIPF2 (Varview)
Functional Consequence:: intron_variant,missense_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)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40260550C>T, NC_000017.10:g.38416802C>T, NM_133264.5:c.79C>T, NM_133264.4:c.79C>T, XM_005257084.3:c.79C>T, XM_005257084.2:c.79C>T, XM_005257084.1:c.79C>T, XM_005257083.3:c.79C>T, XM_005257083.2:c.79C>T, XM_005257083.1:c.79C>T, XM_047435496.1:c.79C>T, XM_047435498.1:c.79C>T, XM_047435499.1:c.79C>T, XM_011524412.1:c.79C>T, XM_047435497.1:c.79C>T, NP_573571.1:p.Pro27Ser, XP_005257141.1:p.Pro27Ser, XP_005257140.1:p.Pro27Ser, XP_047291452.1:p.Pro27Ser, XP_047291454.1:p.Pro27Ser, XP_047291455.1:p.Pro27Ser, XP_011522714.1:p.Pro27Ser, XP_047291453.1:p.Pro27Ser

Select item 146218858218.

rs1462188582 [Homo sapiens]

Variant type:: DEL
Alleles:: ATA>- [Show Flanks]
Chromosome:: 17:40273854 (GRCh38)
17:38430106 (GRCh37)
Canonical SPDI:: NC_000017.11:40273853:ATA:
Gene:: WIPF2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.40273854_40273856del, NC_000017.10:g.38430106_38430108del, NM_133264.5:c.1035_1037del, NM_133264.4:c.1035_1037del, XM_005257084.3:c.1035_1037del, XM_005257084.2:c.1035_1037del, XM_005257084.1:c.1035_1037del, XM_005257083.3:c.1035_1037del, XM_005257083.2:c.1035_1037del, XM_005257083.1:c.1035_1037del, XM_047435496.1:c.1035_1037del, XM_047435498.1:c.918_920del, XM_047435499.1:c.918_920del, XM_047435500.1:c.585_587del, XM_011524412.1:c.918_920del, XM_047435497.1:c.1035_1037del, NP_573571.1:p.Tyr346del, XP_005257141.1:p.Tyr346del, XP_005257140.1:p.Tyr346del, XP_047291452.1:p.Tyr346del, XP_047291454.1:p.Tyr307del, XP_047291455.1:p.Tyr307del, XP_047291456.1:p.Tyr196del, XP_011522714.1:p.Tyr307del, XP_047291453.1:p.Tyr346del

Select item 146138035719.

rs1461380357 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40264953 (GRCh38)
17:38421205 (GRCh37)
Canonical SPDI:: NC_000017.11:40264952:T:C
Gene:: WIPF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40264953T>C, NC_000017.10:g.38421205T>C, NM_133264.5:c.777T>C, NM_133264.4:c.777T>C, XM_005257084.3:c.777T>C, XM_005257084.2:c.777T>C, XM_005257084.1:c.777T>C, XM_005257083.3:c.777T>C, XM_005257083.2:c.777T>C, XM_005257083.1:c.777T>C, XM_047435496.1:c.777T>C, XM_047435498.1:c.660T>C, XM_047435499.1:c.660T>C, XM_047435500.1:c.327T>C, XM_011524412.1:c.660T>C, XM_047435497.1:c.777T>C

Select item 145716981420.

rs1457169814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40264576 (GRCh38)
17:38420828 (GRCh37)
Canonical SPDI:: NC_000017.11:40264575:C:T
Gene:: WIPF2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40264576C>T, NC_000017.10:g.38420828C>T, NM_133264.5:c.400C>T, NM_133264.4:c.400C>T, XM_005257084.3:c.400C>T, XM_005257084.2:c.400C>T, XM_005257084.1:c.400C>T, XM_005257083.3:c.400C>T, XM_005257083.2:c.400C>T, XM_005257083.1:c.400C>T, XM_047435496.1:c.400C>T, XM_047435498.1:c.283C>T, XM_047435499.1:c.283C>T, XM_047435500.1:c.-51C>T, XM_011524412.1:c.283C>T, XM_047435497.1:c.400C>T, NP_573571.1:p.Pro134Ser, XP_005257141.1:p.Pro134Ser, XP_005257140.1:p.Pro134Ser, XP_047291452.1:p.Pro134Ser, XP_047291454.1:p.Pro95Ser, XP_047291455.1:p.Pro95Ser, XP_011522714.1:p.Pro95Ser, XP_047291453.1:p.Pro134Ser

dbSNP

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Result Filters

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Global MAF

Custom range

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Items: 1 to 20 of 464

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