SNP Links for Protein (Select 767988296) - SNP

Links from Protein

Items: 1 to 20 of 753

<< First< Prev

Page of 38

Next >Last >>

Select item 14901395831.

rs1490139583 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:22131658 (GRCh38)
16:22142979 (GRCh37)
Canonical SPDI:: NC_000016.10:22131657:T:G
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.22131658T>G, NC_000016.9:g.22142979T>G, NG_034015.1:g.44121T>G, NM_173615.5:c.1801T>G, NM_173615.4:c.1801T>G, NM_173615.3:c.1801T>G, NW_017852933.1:g.973380A>C, XM_011545742.4:c.1918T>G, XM_011545742.3:c.1918T>G, XM_011545742.2:c.1918T>G, XM_011545742.1:c.1918T>G, XM_011545744.3:c.430T>G, XM_011545744.2:c.430T>G, XM_011545744.1:c.430T>G, XM_011545746.3:c.301T>G, XM_011545746.2:c.301T>G, XM_011545746.1:c.301T>G, XM_047433630.1:c.1918T>G, XM_047433631.1:c.1801T>G, XM_047433632.1:c.1855T>G, XM_047433633.1:c.1918T>G, XM_047433634.1:c.1918T>G, XM_047433635.1:c.1918T>G, XR_007064856.1:n.2015T>G, XR_007064857.1:n.2015T>G, XR_007064855.1:n.2015T>G, XM_047433637.1:c.-107T>G, XM_047433636.1:c.1918T>G, XM_047433627.1:c.1864T>G, XM_047433629.1:c.1855T>G, XM_011545745.2:c.346T>G, XM_011545745.1:c.346T>G, NP_775886.3:p.Phe601Val, XP_011544044.1:p.Phe640Val, XP_011544046.1:p.Phe144Val, XP_011544048.1:p.Phe101Val, XP_047289586.1:p.Phe640Val, XP_047289587.1:p.Phe601Val, XP_047289588.1:p.Phe619Val, XP_047289589.1:p.Phe640Val, XP_047289590.1:p.Phe640Val, XP_047289591.1:p.Phe640Val, XP_047289592.1:p.Phe640Val, XP_047289583.1:p.Phe622Val, XP_047289585.1:p.Phe619Val, XP_011544047.1:p.Phe116Val

Select item 14812985832.

rs1481298583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:22131729 (GRCh38)
16:22143050 (GRCh37)
Canonical SPDI:: NC_000016.10:22131728:G:A
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22131729G>A, NC_000016.9:g.22143050G>A, NG_034015.1:g.44192G>A, NM_173615.5:c.1872G>A, NM_173615.4:c.1872G>A, NM_173615.3:c.1872G>A, NW_017852933.1:g.973309C>T, XM_011545742.4:c.1989G>A, XM_011545742.3:c.1989G>A, XM_011545742.2:c.1989G>A, XM_011545742.1:c.1989G>A, XM_011545744.3:c.501G>A, XM_011545744.2:c.501G>A, XM_011545744.1:c.501G>A, XM_011545746.3:c.372G>A, XM_011545746.2:c.372G>A, XM_011545746.1:c.372G>A, XM_011545745.2:c.417G>A, XM_011545745.1:c.417G>A, XM_047433627.1:c.1935G>A, XM_047433629.1:c.1926G>A, XM_047433630.1:c.1989G>A, XM_047433631.1:c.1872G>A, XM_047433632.1:c.1926G>A, XM_047433633.1:c.1989G>A, XM_047433634.1:c.1989G>A, XM_047433635.1:c.1989G>A, XR_007064856.1:n.2086G>A, XR_007064857.1:n.2086G>A, XR_007064855.1:n.2086G>A, XM_047433637.1:c.-36G>A, XM_047433636.1:c.1989G>A, NP_775886.3:p.Met624Ile, XP_011544044.1:p.Met663Ile, XP_011544046.1:p.Met167Ile, XP_011544048.1:p.Met124Ile, XP_011544047.1:p.Met139Ile, XP_047289583.1:p.Met645Ile, XP_047289585.1:p.Met642Ile, XP_047289586.1:p.Met663Ile, XP_047289587.1:p.Met624Ile, XP_047289588.1:p.Met642Ile, XP_047289589.1:p.Met663Ile, XP_047289590.1:p.Met663Ile, XP_047289591.1:p.Met663Ile, XP_047289592.1:p.Met663Ile

Select item 14812863403.

rs1481286340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:22150793 (GRCh38)
16:22162114 (GRCh37)
Canonical SPDI:: NC_000016.10:22150792:C:G
Gene:: VWA3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22150793C>G, NC_000016.9:g.22162114C>G, NG_034015.1:g.63256C>G, NM_173615.5:c.3228C>G, NM_173615.4:c.3228C>G, NM_173615.3:c.3228C>G, NW_017852933.1:g.954245G>C, XM_011545742.4:c.3417C>G, XM_011545742.3:c.3417C>G, XM_011545742.2:c.3417C>G, XM_011545742.1:c.3417C>G, XM_011545744.3:c.1929C>G, XM_011545744.2:c.1929C>G, XM_011545744.1:c.1929C>G, XM_011545746.3:c.1800C>G, XM_011545746.2:c.1800C>G, XM_011545746.1:c.1800C>G, XM_011545745.2:c.1845C>G, XM_011545745.1:c.1845C>G, NM_175059.2:c.462C>G, XM_047433627.1:c.3363C>G, XM_047433629.1:c.3354C>G, XM_047433630.1:c.3345C>G, XM_047433632.1:c.3282C>G, XM_047433633.1:c.3264C>G, XM_047433635.1:c.*56C>G, XM_047433637.1:c.1509C>G, XM_047433631.1:c.3300C>G, NM_175059.1:c.462C>G

Select item 14810459734.

rs1481045973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:22126285 (GRCh38)
16:22137606 (GRCh37)
Canonical SPDI:: NC_000016.10:22126284:T:A
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22126285T>A, NC_000016.9:g.22137606T>A, NG_034015.1:g.38748T>A, NM_173615.5:c.1640T>A, NM_173615.4:c.1640T>A, NM_173615.3:c.1640T>A, NW_017852933.1:g.978753A>T, XM_011545742.4:c.1757T>A, XM_011545742.3:c.1757T>A, XM_011545742.2:c.1757T>A, XM_011545742.1:c.1757T>A, XM_011545744.3:c.269T>A, XM_011545744.2:c.269T>A, XM_011545744.1:c.269T>A, XM_011545746.3:c.140T>A, XM_011545746.2:c.140T>A, XM_011545746.1:c.140T>A, XM_011545745.2:c.185T>A, XM_011545745.1:c.185T>A, XM_047433627.1:c.1703T>A, XM_047433629.1:c.1694T>A, XM_047433630.1:c.1757T>A, XM_047433631.1:c.1640T>A, XM_047433632.1:c.1694T>A, XM_047433633.1:c.1757T>A, XM_047433634.1:c.1757T>A, XM_047433635.1:c.1757T>A, XR_007064856.1:n.1854T>A, XR_007064857.1:n.1854T>A, XR_007064855.1:n.1854T>A, XM_047433636.1:c.1757T>A, NP_775886.3:p.Phe547Tyr, XP_011544044.1:p.Phe586Tyr, XP_011544046.1:p.Phe90Tyr, XP_011544048.1:p.Phe47Tyr, XP_011544047.1:p.Phe62Tyr, XP_047289583.1:p.Phe568Tyr, XP_047289585.1:p.Phe565Tyr, XP_047289586.1:p.Phe586Tyr, XP_047289587.1:p.Phe547Tyr, XP_047289588.1:p.Phe565Tyr, XP_047289589.1:p.Phe586Tyr, XP_047289590.1:p.Phe586Tyr, XP_047289591.1:p.Phe586Tyr, XP_047289592.1:p.Phe586Tyr

Select item 14798030725.

rs1479803072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22134395 (GRCh38)
16:22145716 (GRCh37)
Canonical SPDI:: NC_000016.10:22134394:C:T
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.22134395C>T, NC_000016.9:g.22145716C>T, NG_034015.1:g.46858C>T, NM_173615.5:c.2096C>T, NM_173615.4:c.2096C>T, NM_173615.3:c.2096C>T, NW_017852933.1:g.970643G>A, XM_011545742.4:c.2213C>T, XM_011545742.3:c.2213C>T, XM_011545742.2:c.2213C>T, XM_011545742.1:c.2213C>T, XM_011545744.3:c.725C>T, XM_011545744.2:c.725C>T, XM_011545744.1:c.725C>T, XM_011545746.3:c.596C>T, XM_011545746.2:c.596C>T, XM_011545746.1:c.596C>T, XM_047433630.1:c.2213C>T, XM_047433631.1:c.2096C>T, XM_047433632.1:c.2150C>T, XM_047433633.1:c.2213C>T, XM_047433634.1:c.2213C>T, XM_047433635.1:c.2213C>T, XR_007064856.1:n.2310C>T, XR_007064857.1:n.2310C>T, XR_007064855.1:n.2310C>T, XM_047433637.1:c.305C>T, XM_047433636.1:c.2213C>T, XM_047433627.1:c.2159C>T, XM_047433629.1:c.2150C>T, XM_011545745.2:c.641C>T, XM_011545745.1:c.641C>T, NP_775886.3:p.Ser699Phe, XP_011544044.1:p.Ser738Phe, XP_011544046.1:p.Ser242Phe, XP_011544048.1:p.Ser199Phe, XP_047289586.1:p.Ser738Phe, XP_047289587.1:p.Ser699Phe, XP_047289588.1:p.Ser717Phe, XP_047289589.1:p.Ser738Phe, XP_047289590.1:p.Ser738Phe, XP_047289591.1:p.Ser738Phe, XP_047289593.1:p.Ser102Phe, XP_047289592.1:p.Ser738Phe, XP_047289583.1:p.Ser720Phe, XP_047289585.1:p.Ser717Phe, XP_011544047.1:p.Ser214Phe

Select item 14793478626.

rs1479347862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:22138361 (GRCh38)
16:22149682 (GRCh37)
Canonical SPDI:: NC_000016.10:22138360:G:C,NC_000016.10:22138360:G:T
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.22138361G>C, NC_000016.10:g.22138361G>T, NC_000016.9:g.22149682G>C, NC_000016.9:g.22149682G>T, NG_034015.1:g.50824G>C, NG_034015.1:g.50824G>T, NM_173615.5:c.2141G>C, NM_173615.5:c.2141G>T, NM_173615.4:c.2141G>C, NM_173615.4:c.2141G>T, NM_173615.3:c.2141G>C, NM_173615.3:c.2141G>T, NW_017852933.1:g.966677C>G, NW_017852933.1:g.966677C>A, XM_011545742.4:c.2258G>C, XM_011545742.4:c.2258G>T, XM_011545742.3:c.2258G>C, XM_011545742.3:c.2258G>T, XM_011545742.2:c.2258G>C, XM_011545742.2:c.2258G>T, XM_011545742.1:c.2258G>C, XM_011545742.1:c.2258G>T, XM_011545744.3:c.770G>C, XM_011545744.3:c.770G>T, XM_011545744.2:c.770G>C, XM_011545744.2:c.770G>T, XM_011545744.1:c.770G>C, XM_011545744.1:c.770G>T, XM_011545746.3:c.641G>C, XM_011545746.3:c.641G>T, XM_011545746.2:c.641G>C, XM_011545746.2:c.641G>T, XM_011545746.1:c.641G>C, XM_011545746.1:c.641G>T, XM_011545745.2:c.686G>C, XM_011545745.2:c.686G>T, XM_011545745.1:c.686G>C, XM_011545745.1:c.686G>T, XM_047433627.1:c.2204G>C, XM_047433627.1:c.2204G>T, XM_047433629.1:c.2195G>C, XM_047433629.1:c.2195G>T, XM_047433630.1:c.2258G>C, XM_047433630.1:c.2258G>T, XM_047433631.1:c.2141G>C, XM_047433631.1:c.2141G>T, XM_047433632.1:c.2195G>C, XM_047433632.1:c.2195G>T, XM_047433634.1:c.2258G>C, XM_047433634.1:c.2258G>T, XM_047433635.1:c.2258G>C, XM_047433635.1:c.2258G>T, XR_007064856.1:n.2355G>C, XR_007064856.1:n.2355G>T, XR_007064857.1:n.2355G>C, XR_007064857.1:n.2355G>T, XR_007064855.1:n.2355G>C, XR_007064855.1:n.2355G>T, XM_047433637.1:c.350G>C, XM_047433637.1:c.350G>T, XM_047433636.1:c.2258G>C, XM_047433636.1:c.2258G>T, NP_775886.3:p.Cys714Ser, NP_775886.3:p.Cys714Phe, XP_011544044.1:p.Cys753Ser, XP_011544044.1:p.Cys753Phe, XP_011544046.1:p.Cys257Ser, XP_011544046.1:p.Cys257Phe, XP_011544048.1:p.Cys214Ser, XP_011544048.1:p.Cys214Phe, XP_011544047.1:p.Cys229Ser, XP_011544047.1:p.Cys229Phe, XP_047289583.1:p.Cys735Ser, XP_047289583.1:p.Cys735Phe, XP_047289585.1:p.Cys732Ser, XP_047289585.1:p.Cys732Phe, XP_047289586.1:p.Cys753Ser, XP_047289586.1:p.Cys753Phe, XP_047289587.1:p.Cys714Ser, XP_047289587.1:p.Cys714Phe, XP_047289588.1:p.Cys732Ser, XP_047289588.1:p.Cys732Phe, XP_047289590.1:p.Cys753Ser, XP_047289590.1:p.Cys753Phe, XP_047289591.1:p.Cys753Ser, XP_047289591.1:p.Cys753Phe, XP_047289593.1:p.Cys117Ser, XP_047289593.1:p.Cys117Phe, XP_047289592.1:p.Cys753Ser, XP_047289592.1:p.Cys753Phe

Select item 14792980447.

rs1479298044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:22132964 (GRCh38)
16:22144285 (GRCh37)
Canonical SPDI:: NC_000016.10:22132963:T:A
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000016.10:g.22132964T>A, NC_000016.9:g.22144285T>A, NG_034015.1:g.45427T>A, NM_173615.5:c.1937T>A, NM_173615.4:c.1937T>A, NM_173615.3:c.1937T>A, NW_017852933.1:g.972074A>T, XM_011545742.4:c.2054T>A, XM_011545742.3:c.2054T>A, XM_011545742.2:c.2054T>A, XM_011545742.1:c.2054T>A, XM_011545744.3:c.566T>A, XM_011545744.2:c.566T>A, XM_011545744.1:c.566T>A, XM_011545746.3:c.437T>A, XM_011545746.2:c.437T>A, XM_011545746.1:c.437T>A, XM_047433630.1:c.2054T>A, XM_047433631.1:c.1937T>A, XM_047433632.1:c.1991T>A, XM_047433633.1:c.2054T>A, XM_047433634.1:c.2054T>A, XM_047433635.1:c.2054T>A, XR_007064856.1:n.2151T>A, XR_007064857.1:n.2151T>A, XR_007064855.1:n.2151T>A, XM_047433637.1:c.146T>A, XM_047433636.1:c.2054T>A, XM_047433627.1:c.2000T>A, XM_047433629.1:c.1991T>A, XM_011545745.2:c.482T>A, XM_011545745.1:c.482T>A, NP_775886.3:p.Leu646His, XP_011544044.1:p.Leu685His, XP_011544046.1:p.Leu189His, XP_011544048.1:p.Leu146His, XP_047289586.1:p.Leu685His, XP_047289587.1:p.Leu646His, XP_047289588.1:p.Leu664His, XP_047289589.1:p.Leu685His, XP_047289590.1:p.Leu685His, XP_047289591.1:p.Leu685His, XP_047289593.1:p.Leu49His, XP_047289592.1:p.Leu685His, XP_047289583.1:p.Leu667His, XP_047289585.1:p.Leu664His, XP_011544047.1:p.Leu161His

Select item 14790701438.

rs1479070143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:22132946 (GRCh38)
16:22144267 (GRCh37)
Canonical SPDI:: NC_000016.10:22132945:T:A
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22132946T>A, NC_000016.9:g.22144267T>A, NG_034015.1:g.45409T>A, NM_173615.5:c.1919T>A, NM_173615.4:c.1919T>A, NM_173615.3:c.1919T>A, NW_017852933.1:g.972092A>T, XM_011545742.4:c.2036T>A, XM_011545742.3:c.2036T>A, XM_011545742.2:c.2036T>A, XM_011545742.1:c.2036T>A, XM_011545744.3:c.548T>A, XM_011545744.2:c.548T>A, XM_011545744.1:c.548T>A, XM_011545746.3:c.419T>A, XM_011545746.2:c.419T>A, XM_011545746.1:c.419T>A, XM_011545745.2:c.464T>A, XM_011545745.1:c.464T>A, XM_047433627.1:c.1982T>A, XM_047433629.1:c.1973T>A, XM_047433630.1:c.2036T>A, XM_047433631.1:c.1919T>A, XM_047433632.1:c.1973T>A, XM_047433633.1:c.2036T>A, XM_047433634.1:c.2036T>A, XM_047433635.1:c.2036T>A, XR_007064856.1:n.2133T>A, XR_007064857.1:n.2133T>A, XR_007064855.1:n.2133T>A, XM_047433637.1:c.128T>A, XM_047433636.1:c.2036T>A, NP_775886.3:p.Leu640His, XP_011544044.1:p.Leu679His, XP_011544046.1:p.Leu183His, XP_011544048.1:p.Leu140His, XP_011544047.1:p.Leu155His, XP_047289583.1:p.Leu661His, XP_047289585.1:p.Leu658His, XP_047289586.1:p.Leu679His, XP_047289587.1:p.Leu640His, XP_047289588.1:p.Leu658His, XP_047289589.1:p.Leu679His, XP_047289590.1:p.Leu679His, XP_047289591.1:p.Leu679His, XP_047289593.1:p.Leu43His, XP_047289592.1:p.Leu679His

Select item 14777189809.

rs1477718980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:22155872 (GRCh38)
16:22167193 (GRCh37)
Canonical SPDI:: NC_000016.10:22155871:T:A
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.22155872T>A, NC_000016.9:g.22167193T>A, NG_034015.1:g.68335T>A, NM_173615.5:c.3525T>A, NM_173615.4:c.3525T>A, NM_173615.3:c.3525T>A, NW_017852933.1:g.949166A>T, XM_011545742.4:c.3714T>A, XM_011545742.3:c.3714T>A, XM_011545742.2:c.3714T>A, XM_011545742.1:c.3714T>A, XM_011545744.3:c.2226T>A, XM_011545744.2:c.2226T>A, XM_011545744.1:c.2226T>A, XM_011545746.3:c.2097T>A, XM_011545746.2:c.2097T>A, XM_011545746.1:c.2097T>A, XM_011545745.2:c.2142T>A, XM_011545745.1:c.2142T>A, NM_175059.2:c.759T>A, XM_047433630.1:c.3642T>A, XM_047433631.1:c.3597T>A, XM_047433633.1:c.3561T>A, XM_047433634.1:c.3417T>A, XM_047433637.1:c.1806T>A, XM_047433627.1:c.3660T>A, XM_047433629.1:c.3651T>A, XM_047433632.1:c.3579T>A, NM_175059.1:c.759T>A, NP_775886.3:p.Asn1175Lys, XP_011544044.1:p.Asn1238Lys, XP_011544046.1:p.Asn742Lys, XP_011544048.1:p.Asn699Lys, XP_011544047.1:p.Asn714Lys, XP_047289586.1:p.Asn1214Lys, XP_047289587.1:p.Asn1199Lys, XP_047289589.1:p.Asn1187Lys, XP_047289590.1:p.Asn1139Lys, XP_047289593.1:p.Asn602Lys, XP_047289583.1:p.Asn1220Lys, XP_047289585.1:p.Asn1217Lys, XP_047289588.1:p.Asn1193Lys

Select item 147695353310.

rs1476953533 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22126269 (GRCh38)
16:22137590 (GRCh37)
Canonical SPDI:: NC_000016.10:22126268:T:C
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.22126269T>C, NC_000016.9:g.22137590T>C, NG_034015.1:g.38732T>C, NM_173615.5:c.1624T>C, NM_173615.4:c.1624T>C, NM_173615.3:c.1624T>C, NW_017852933.1:g.978769A>G, XM_011545742.4:c.1741T>C, XM_011545742.3:c.1741T>C, XM_011545742.2:c.1741T>C, XM_011545742.1:c.1741T>C, XM_011545744.3:c.253T>C, XM_011545744.2:c.253T>C, XM_011545744.1:c.253T>C, XM_011545746.3:c.124T>C, XM_011545746.2:c.124T>C, XM_011545746.1:c.124T>C, XM_011545745.2:c.169T>C, XM_011545745.1:c.169T>C, XM_047433627.1:c.1687T>C, XM_047433629.1:c.1678T>C, XM_047433630.1:c.1741T>C, XM_047433631.1:c.1624T>C, XM_047433632.1:c.1678T>C, XM_047433633.1:c.1741T>C, XM_047433634.1:c.1741T>C, XM_047433635.1:c.1741T>C, XR_007064856.1:n.1838T>C, XR_007064857.1:n.1838T>C, XR_007064855.1:n.1838T>C, XM_047433636.1:c.1741T>C, NP_775886.3:p.Ser542Pro, XP_011544044.1:p.Ser581Pro, XP_011544046.1:p.Ser85Pro, XP_011544048.1:p.Ser42Pro, XP_011544047.1:p.Ser57Pro, XP_047289583.1:p.Ser563Pro, XP_047289585.1:p.Ser560Pro, XP_047289586.1:p.Ser581Pro, XP_047289587.1:p.Ser542Pro, XP_047289588.1:p.Ser560Pro, XP_047289589.1:p.Ser581Pro, XP_047289590.1:p.Ser581Pro, XP_047289591.1:p.Ser581Pro, XP_047289592.1:p.Ser581Pro

Select item 147590738011.

rs1475907380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:22149826 (GRCh38)
16:22161147 (GRCh37)
Canonical SPDI:: NC_000016.10:22149825:G:A
Gene:: VWA3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,stop_gained,intron_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.22149826G>A, NC_000016.9:g.22161147G>A, NG_034015.1:g.62289G>A, NM_173615.5:c.3024G>A, NM_173615.4:c.3024G>A, NM_173615.3:c.3024G>A, NW_017852933.1:g.955212C>T, XM_011545742.4:c.3213G>A, XM_011545742.3:c.3213G>A, XM_011545742.2:c.3213G>A, XM_011545742.1:c.3213G>A, XM_011545744.3:c.1725G>A, XM_011545744.2:c.1725G>A, XM_011545744.1:c.1725G>A, XM_011545746.3:c.1596G>A, XM_011545746.2:c.1596G>A, XM_011545746.1:c.1596G>A, XM_011545745.2:c.1641G>A, XM_011545745.1:c.1641G>A, NM_175059.2:c.258G>A, XM_047433627.1:c.3159G>A, XM_047433629.1:c.3150G>A, XM_047433630.1:c.3141G>A, XM_047433631.1:c.3096G>A, XM_047433632.1:c.3078G>A, XM_047433633.1:c.3060G>A, XR_007064855.1:n.3129G>A, XM_047433637.1:c.1305G>A, NM_175059.1:c.258G>A, NP_775886.3:p.Trp1008Ter, XP_011544044.1:p.Trp1071Ter, XP_011544046.1:p.Trp575Ter, XP_011544048.1:p.Trp532Ter, XP_011544047.1:p.Trp547Ter, XP_047289583.1:p.Trp1053Ter, XP_047289585.1:p.Trp1050Ter, XP_047289586.1:p.Trp1047Ter, XP_047289587.1:p.Trp1032Ter, XP_047289588.1:p.Trp1026Ter, XP_047289589.1:p.Trp1020Ter, XP_047289593.1:p.Trp435Ter

Select item 147496785312.

rs1474967853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22131249 (GRCh38)
16:22142570 (GRCh37)
Canonical SPDI:: NC_000016.10:22131248:T:C
Gene:: VWA3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.22131249T>C, NC_000016.9:g.22142570T>C, NG_034015.1:g.43712T>C, NM_173615.5:c.1697T>C, NM_173615.4:c.1697T>C, NM_173615.3:c.1697T>C, NW_017852933.1:g.973789A>G, XM_011545742.4:c.1814T>C, XM_011545742.3:c.1814T>C, XM_011545742.2:c.1814T>C, XM_011545742.1:c.1814T>C, XM_011545744.3:c.326T>C, XM_011545744.2:c.326T>C, XM_011545744.1:c.326T>C, XM_011545746.3:c.197T>C, XM_011545746.2:c.197T>C, XM_011545746.1:c.197T>C, XM_011545745.2:c.242T>C, XM_011545745.1:c.242T>C, XM_047433627.1:c.1760T>C, XM_047433629.1:c.1751T>C, XM_047433630.1:c.1814T>C, XM_047433631.1:c.1697T>C, XM_047433632.1:c.1751T>C, XM_047433633.1:c.1814T>C, XM_047433634.1:c.1814T>C, XM_047433635.1:c.1814T>C, XR_007064856.1:n.1911T>C, XR_007064857.1:n.1911T>C, XR_007064855.1:n.1911T>C, XM_047433636.1:c.1814T>C, NP_775886.3:p.Val566Ala, XP_011544044.1:p.Val605Ala, XP_011544046.1:p.Val109Ala, XP_011544048.1:p.Val66Ala, XP_011544047.1:p.Val81Ala, XP_047289583.1:p.Val587Ala, XP_047289585.1:p.Val584Ala, XP_047289586.1:p.Val605Ala, XP_047289587.1:p.Val566Ala, XP_047289588.1:p.Val584Ala, XP_047289589.1:p.Val605Ala, XP_047289590.1:p.Val605Ala, XP_047289591.1:p.Val605Ala, XP_047289592.1:p.Val605Ala

Select item 147451033713.

rs1474510337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22140222 (GRCh38)
16:22151543 (GRCh37)
Canonical SPDI:: NC_000016.10:22140221:T:C
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.22140222T>C, NC_000016.9:g.22151543T>C, NG_034015.1:g.52685T>C, NM_173615.5:c.2361T>C, NM_173615.4:c.2361T>C, NM_173615.3:c.2361T>C, NW_017852933.1:g.964816A>G, XM_011545742.4:c.2478T>C, XM_011545742.3:c.2478T>C, XM_011545742.2:c.2478T>C, XM_011545742.1:c.2478T>C, XM_011545744.3:c.990T>C, XM_011545744.2:c.990T>C, XM_011545744.1:c.990T>C, XM_011545746.3:c.861T>C, XM_011545746.2:c.861T>C, XM_011545746.1:c.861T>C, XM_011545745.2:c.906T>C, XM_011545745.1:c.906T>C, XM_047433627.1:c.2424T>C, XM_047433629.1:c.2415T>C, XM_047433630.1:c.2478T>C, XM_047433631.1:c.2361T>C, XM_047433632.1:c.2415T>C, XM_047433633.1:c.2325T>C, XM_047433634.1:c.2478T>C, XM_047433635.1:c.2478T>C, XR_007064856.1:n.2575T>C, XR_007064857.1:n.2575T>C, XR_007064855.1:n.2575T>C, XM_047433637.1:c.570T>C, XM_047433636.1:c.2478T>C

Select item 147017818614.

rs1470178186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:22150735 (GRCh38)
16:22162056 (GRCh37)
Canonical SPDI:: NC_000016.10:22150734:T:C
Gene:: VWA3A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,stop_lost,terminator_codon_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.22150735T>C, NC_000016.9:g.22162056T>C, NG_034015.1:g.63198T>C, NM_173615.5:c.3170T>C, NM_173615.4:c.3170T>C, NM_173615.3:c.3170T>C, NW_017852933.1:g.954303A>G, XM_011545742.4:c.3359T>C, XM_011545742.3:c.3359T>C, XM_011545742.2:c.3359T>C, XM_011545742.1:c.3359T>C, XM_011545744.3:c.1871T>C, XM_011545744.2:c.1871T>C, XM_011545744.1:c.1871T>C, XM_011545746.3:c.1742T>C, XM_011545746.2:c.1742T>C, XM_011545746.1:c.1742T>C, XM_011545745.2:c.1787T>C, XM_011545745.1:c.1787T>C, NM_175059.2:c.404T>C, XM_047433627.1:c.3305T>C, XM_047433629.1:c.3296T>C, XM_047433630.1:c.3287T>C, XM_047433631.1:c.3242T>C, XM_047433632.1:c.3224T>C, XM_047433633.1:c.3206T>C, XM_047433635.1:c.3214T>C, XR_007064856.1:n.3130T>C, XM_047433637.1:c.1451T>C, NM_175059.1:c.404T>C, NP_775886.3:p.Leu1057Pro, XP_011544044.1:p.Leu1120Pro, XP_011544046.1:p.Leu624Pro, XP_011544048.1:p.Leu581Pro, XP_011544047.1:p.Leu596Pro, XP_047289583.1:p.Leu1102Pro, XP_047289585.1:p.Leu1099Pro, XP_047289586.1:p.Leu1096Pro, XP_047289587.1:p.Leu1081Pro, XP_047289588.1:p.Leu1075Pro, XP_047289589.1:p.Leu1069Pro, XP_047289591.1:p.Ter1072Arg, XP_047289593.1:p.Leu484Pro

Select item 146962501515.

rs1469625015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:22148297 (GRCh38)
16:22159618 (GRCh37)
Canonical SPDI:: NC_000016.10:22148296:G:T
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.22148297G>T, NC_000016.9:g.22159618G>T, NG_034015.1:g.60760G>T, NM_173615.5:c.2975G>T, NM_173615.4:c.2975G>T, NM_173615.3:c.2975G>T, NW_017852933.1:g.956741C>A, XM_011545742.4:c.3164G>T, XM_011545742.3:c.3164G>T, XM_011545742.2:c.3164G>T, XM_011545742.1:c.3164G>T, XM_011545744.3:c.1676G>T, XM_011545744.2:c.1676G>T, XM_011545744.1:c.1676G>T, XM_011545746.3:c.1547G>T, XM_011545746.2:c.1547G>T, XM_011545746.1:c.1547G>T, XM_011545745.2:c.1592G>T, XM_011545745.1:c.1592G>T, NM_175059.2:c.209G>T, XM_047433627.1:c.3110G>T, XM_047433629.1:c.3101G>T, XM_047433630.1:c.3092G>T, XM_047433631.1:c.3047G>T, XM_047433632.1:c.3029G>T, XM_047433633.1:c.3011G>T, XM_047433634.1:c.3164G>T, XM_047433635.1:c.3164G>T, XR_007064856.1:n.3080G>T, XR_007064857.1:n.3080G>T, XR_007064855.1:n.3080G>T, XM_047433637.1:c.1256G>T, NM_175059.1:c.209G>T, NP_775886.3:p.Cys992Phe, XP_011544044.1:p.Cys1055Phe, XP_011544046.1:p.Cys559Phe, XP_011544048.1:p.Cys516Phe, XP_011544047.1:p.Cys531Phe, XP_047289583.1:p.Cys1037Phe, XP_047289585.1:p.Cys1034Phe, XP_047289586.1:p.Cys1031Phe, XP_047289587.1:p.Cys1016Phe, XP_047289588.1:p.Cys1010Phe, XP_047289589.1:p.Cys1004Phe, XP_047289590.1:p.Cys1055Phe, XP_047289591.1:p.Cys1055Phe, XP_047289593.1:p.Cys419Phe

Select item 146736086016.

rs1467360860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:22138485 (GRCh38)
16:22149806 (GRCh37)
Canonical SPDI:: NC_000016.10:22138484:G:A
Gene:: VWA3A (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22138485G>A, NC_000016.9:g.22149806G>A, NG_034015.1:g.50948G>A, NM_173615.5:c.2265G>A, NM_173615.4:c.2265G>A, NM_173615.3:c.2265G>A, NW_017852933.1:g.966553C>T, XM_011545742.4:c.2382G>A, XM_011545742.3:c.2382G>A, XM_011545742.2:c.2382G>A, XM_011545742.1:c.2382G>A, XM_011545744.3:c.894G>A, XM_011545744.2:c.894G>A, XM_011545744.1:c.894G>A, XM_011545746.3:c.765G>A, XM_011545746.2:c.765G>A, XM_011545746.1:c.765G>A, XM_011545745.2:c.810G>A, XM_011545745.1:c.810G>A, XM_047433627.1:c.2328G>A, XM_047433629.1:c.2319G>A, XM_047433630.1:c.2382G>A, XM_047433631.1:c.2265G>A, XM_047433632.1:c.2319G>A, XM_047433634.1:c.2382G>A, XM_047433635.1:c.2382G>A, XR_007064856.1:n.2479G>A, XR_007064857.1:n.2479G>A, XR_007064855.1:n.2479G>A, XM_047433637.1:c.474G>A, XM_047433636.1:c.2382G>A

Select item 146524124717.

rs1465241247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:22126221 (GRCh38)
16:22137542 (GRCh37)
Canonical SPDI:: NC_000016.10:22126220:A:G
Gene:: VWA3A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_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_000016.10:g.22126221A>G, NC_000016.9:g.22137542A>G, NG_034015.1:g.38684A>G, NM_173615.5:c.1576A>G, NM_173615.4:c.1576A>G, NM_173615.3:c.1576A>G, NW_017852933.1:g.978817T>C, XM_011545742.4:c.1693A>G, XM_011545742.3:c.1693A>G, XM_011545742.2:c.1693A>G, XM_011545742.1:c.1693A>G, XM_011545744.3:c.205A>G, XM_011545744.2:c.205A>G, XM_011545744.1:c.205A>G, XM_011545746.3:c.76A>G, XM_011545746.2:c.76A>G, XM_011545746.1:c.76A>G, XM_011545745.2:c.121A>G, XM_011545745.1:c.121A>G, XM_047433627.1:c.1639A>G, XM_047433629.1:c.1630A>G, XM_047433630.1:c.1693A>G, XM_047433631.1:c.1576A>G, XM_047433632.1:c.1630A>G, XM_047433633.1:c.1693A>G, XM_047433634.1:c.1693A>G, XM_047433635.1:c.1693A>G, XR_007064856.1:n.1790A>G, XR_007064857.1:n.1790A>G, XR_007064855.1:n.1790A>G, XM_047433636.1:c.1693A>G, NP_775886.3:p.Ile526Val, XP_011544044.1:p.Ile565Val, XP_011544046.1:p.Ile69Val, XP_011544048.1:p.Ile26Val, XP_011544047.1:p.Ile41Val, XP_047289583.1:p.Ile547Val, XP_047289585.1:p.Ile544Val, XP_047289586.1:p.Ile565Val, XP_047289587.1:p.Ile526Val, XP_047289588.1:p.Ile544Val, XP_047289589.1:p.Ile565Val, XP_047289590.1:p.Ile565Val, XP_047289591.1:p.Ile565Val, XP_047289592.1:p.Ile565Val

Select item 146410319118.

rs1464103191 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:22142706 (GRCh38)
16:22154027 (GRCh37)
Canonical SPDI:: NC_000016.10:22142705:A:G
Gene:: VWA3A (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_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_000016.10:g.22142706A>G, NC_000016.9:g.22154027A>G, NG_034015.1:g.55169A>G, NM_173615.5:c.2533A>G, NM_173615.4:c.2533A>G, NM_173615.3:c.2533A>G, NW_017852933.1:g.962332T>C, XM_011545742.4:c.2650A>G, XM_011545742.3:c.2650A>G, XM_011545742.2:c.2650A>G, XM_011545742.1:c.2650A>G, XM_011545744.3:c.1162A>G, XM_011545744.2:c.1162A>G, XM_011545744.1:c.1162A>G, XM_011545746.3:c.1033A>G, XM_011545746.2:c.1033A>G, XM_011545746.1:c.1033A>G, XM_011545745.2:c.1078A>G, XM_011545745.1:c.1078A>G, XM_047433627.1:c.2596A>G, XM_047433629.1:c.2587A>G, XM_047433630.1:c.2650A>G, XM_047433631.1:c.2533A>G, XM_047433632.1:c.2587A>G, XM_047433633.1:c.2497A>G, XM_047433634.1:c.2650A>G, XM_047433635.1:c.2650A>G, XR_007064856.1:n.2747A>G, XR_007064857.1:n.2747A>G, XR_007064855.1:n.2747A>G, XM_047433637.1:c.742A>G, NP_775886.3:p.Arg845Gly, XP_011544044.1:p.Arg884Gly, XP_011544046.1:p.Arg388Gly, XP_011544048.1:p.Arg345Gly, XP_011544047.1:p.Arg360Gly, XP_047289583.1:p.Arg866Gly, XP_047289585.1:p.Arg863Gly, XP_047289586.1:p.Arg884Gly, XP_047289587.1:p.Arg845Gly, XP_047289588.1:p.Arg863Gly, XP_047289589.1:p.Arg833Gly, XP_047289590.1:p.Arg884Gly, XP_047289591.1:p.Arg884Gly, XP_047289593.1:p.Arg248Gly

Select item 145959750019.

rs1459597500 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:22152604 (GRCh38)
16:22163925 (GRCh37)
Canonical SPDI:: NC_000016.10:22152603:C:T
Gene:: VWA3A (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.22152604C>T, NC_000016.9:g.22163925C>T, NG_034015.1:g.65067C>T, NM_173615.5:c.3375C>T, NM_173615.4:c.3375C>T, NM_173615.3:c.3375C>T, NW_017852933.1:g.952434G>A, XM_011545742.4:c.3564C>T, XM_011545742.3:c.3564C>T, XM_011545742.2:c.3564C>T, XM_011545742.1:c.3564C>T, XM_011545744.3:c.2076C>T, XM_011545744.2:c.2076C>T, XM_011545744.1:c.2076C>T, XM_011545746.3:c.1947C>T, XM_011545746.2:c.1947C>T, XM_011545746.1:c.1947C>T, XM_011545745.2:c.1992C>T, XM_011545745.1:c.1992C>T, NM_175059.2:c.609C>T, XM_047433630.1:c.3492C>T, XM_047433631.1:c.3447C>T, XM_047433633.1:c.3411C>T, XM_047433634.1:c.3267C>T, XM_047433637.1:c.1656C>T, XM_047433627.1:c.3510C>T, XM_047433629.1:c.3501C>T, XM_047433632.1:c.3429C>T, NM_175059.1:c.609C>T

Select item 145885700920.

rs1458857009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:22142669 (GRCh38)
16:22153990 (GRCh37)
Canonical SPDI:: NC_000016.10:22142668:C:A
Gene:: VWA3A (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.22142669C>A, NC_000016.9:g.22153990C>A, NG_034015.1:g.55132C>A, NM_173615.5:c.2496C>A, NM_173615.4:c.2496C>A, NM_173615.3:c.2496C>A, NW_017852933.1:g.962369G>T, XM_011545742.4:c.2613C>A, XM_011545742.3:c.2613C>A, XM_011545742.2:c.2613C>A, XM_011545742.1:c.2613C>A, XM_011545744.3:c.1125C>A, XM_011545744.2:c.1125C>A, XM_011545744.1:c.1125C>A, XM_011545746.3:c.996C>A, XM_011545746.2:c.996C>A, XM_011545746.1:c.996C>A, XM_011545745.2:c.1041C>A, XM_011545745.1:c.1041C>A, XM_047433627.1:c.2559C>A, XM_047433629.1:c.2550C>A, XM_047433630.1:c.2613C>A, XM_047433631.1:c.2496C>A, XM_047433632.1:c.2550C>A, XM_047433633.1:c.2460C>A, XM_047433634.1:c.2613C>A, XM_047433635.1:c.2613C>A, XR_007064856.1:n.2710C>A, XR_007064857.1:n.2710C>A, XR_007064855.1:n.2710C>A, XM_047433637.1:c.705C>A

<< First< Prev

Page of 38

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 753

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity