SNP Links for Protein (Select 1021311925) - SNP

Select item 14896923671.

rs1489692367 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:69189331 (GRCh38)
10:70949087 (GRCh37)
Canonical SPDI:: NC_000010.11:69189329:AAA:A
Gene:: SUPV3L1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69189331_69189332del, NC_000010.10:g.70949087_70949088del, NM_003171.5:c.637_638del, NM_003171.4:c.637_638del, NM_003171.3:c.637_638del, NM_001323585.2:c.274_275del, NM_001323585.1:c.274_275del, NM_001301683.2:c.244_245del, NM_001301683.1:c.244_245del, NM_001323586.2:c.274_275del, NM_001323586.1:c.274_275del, NR_136627.2:n.830_831del, NR_136627.1:n.860_861del, NM_001323584.2:c.244_245del, NM_001323584.1:c.244_245del, NM_001323588.2:c.-273_-272del, NM_001323588.1:c.-273_-272del, NR_136626.2:n.695_696del, NR_136626.1:n.725_726del, NM_001323587.2:c.-273_-272del, NM_001323587.1:c.-273_-272del, NP_003162.2:p.Lys213fs, NP_001310514.1:p.Lys92fs, NP_001288612.1:p.Lys82fs, NP_001310515.1:p.Lys92fs, NP_001310513.1:p.Lys82fs

Select item 14865190402.

rs1486519040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:69208893 (GRCh38)
10:70968649 (GRCh37)
Canonical SPDI:: NC_000010.11:69208892:A:G
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000010.11:g.69208893A>G, NC_000010.10:g.70968649A>G, NM_003171.5:c.2219A>G, NM_003171.4:c.2219A>G, NM_003171.3:c.2219A>G, NM_001323585.2:c.1856A>G, NM_001323585.1:c.1856A>G, NM_001301683.2:c.1826A>G, NM_001301683.1:c.1826A>G, NM_001323586.2:c.1856A>G, NM_001323586.1:c.1856A>G, NR_136627.2:n.2336A>G, NR_136627.1:n.2366A>G, NM_001323584.2:c.1826A>G, NM_001323584.1:c.1826A>G, NM_001323588.2:c.1232A>G, NM_001323588.1:c.1232A>G, NR_136626.2:n.2201A>G, NR_136626.1:n.2231A>G, NM_001323587.2:c.1232A>G, NM_001323587.1:c.1232A>G, NP_003162.2:p.Gln740Arg, NP_001310514.1:p.Gln619Arg, NP_001288612.1:p.Gln609Arg, NP_001310515.1:p.Gln619Arg, NP_001310513.1:p.Gln609Arg, NP_001310517.1:p.Gln411Arg, NP_001310516.1:p.Gln411Arg

Select item 14857442603.

rs1485744260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:69191764 (GRCh38)
10:70951520 (GRCh37)
Canonical SPDI:: NC_000010.11:69191763:C:G
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69191764C>G, NC_000010.10:g.70951520C>G, NM_003171.5:c.851C>G, NM_003171.4:c.851C>G, NM_003171.3:c.851C>G, NM_001323585.2:c.488C>G, NM_001323585.1:c.488C>G, NM_001301683.2:c.458C>G, NM_001301683.1:c.458C>G, NM_001323586.2:c.488C>G, NM_001323586.1:c.488C>G, NR_136627.2:n.1044C>G, NR_136627.1:n.1074C>G, NM_001323584.2:c.458C>G, NM_001323584.1:c.458C>G, NM_001323588.2:c.-59C>G, NM_001323588.1:c.-59C>G, NR_136626.2:n.909C>G, NR_136626.1:n.939C>G, NM_001323587.2:c.-59C>G, NM_001323587.1:c.-59C>G, NP_003162.2:p.Pro284Arg, NP_001310514.1:p.Pro163Arg, NP_001288612.1:p.Pro153Arg, NP_001310515.1:p.Pro163Arg, NP_001310513.1:p.Pro153Arg

Select item 14847756194.

rs1484775619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:69207885 (GRCh38)
10:70967641 (GRCh37)
Canonical SPDI:: NC_000010.11:69207884:A:G
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.69207885A>G, NC_000010.10:g.70967641A>G, NM_003171.5:c.1869A>G, NM_003171.4:c.1869A>G, NM_003171.3:c.1869A>G, NM_001323585.2:c.1506A>G, NM_001323585.1:c.1506A>G, NM_001301683.2:c.1476A>G, NM_001301683.1:c.1476A>G, NM_001323586.2:c.1506A>G, NM_001323586.1:c.1506A>G, NR_136627.2:n.1986A>G, NR_136627.1:n.2016A>G, NM_001323584.2:c.1476A>G, NM_001323584.1:c.1476A>G, NM_001323588.2:c.882A>G, NM_001323588.1:c.882A>G, NR_136626.2:n.1851A>G, NR_136626.1:n.1881A>G, NM_001323587.2:c.882A>G, NM_001323587.1:c.882A>G

Select item 14841339375.

rs1484133937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:69186535 (GRCh38)
10:70946291 (GRCh37)
Canonical SPDI:: NC_000010.11:69186534:A:C
Gene:: SUPV3L1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.69186535A>C, NC_000010.10:g.70946291A>C, NM_003171.5:c.442A>C, NM_003171.4:c.442A>C, NM_003171.3:c.442A>C, NM_001323585.2:c.6A>C, NM_001323585.1:c.6A>C, NM_001301683.2:c.49A>C, NM_001301683.1:c.49A>C, NM_001323586.2:c.6A>C, NM_001323586.1:c.6A>C, NR_136627.2:n.635A>C, NR_136627.1:n.665A>C, NM_001323584.2:c.49A>C, NM_001323584.1:c.49A>C, NM_001323588.2:c.-468A>C, NM_001323588.1:c.-468A>C, NR_136626.2:n.500A>C, NR_136626.1:n.530A>C, NM_001323587.2:c.-468A>C, NM_001323587.1:c.-468A>C, NP_003162.2:p.Ile148Leu, NP_001288612.1:p.Ile17Leu, NP_001310513.1:p.Ile17Leu

Select item 14835063006.

rs1483506300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:69202513 (GRCh38)
10:70962269 (GRCh37)
Canonical SPDI:: NC_000010.11:69202512:T:C
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.69202513T>C, NC_000010.10:g.70962269T>C, NM_003171.5:c.1593T>C, NM_003171.4:c.1593T>C, NM_003171.3:c.1593T>C, NM_001323585.2:c.1230T>C, NM_001323585.1:c.1230T>C, NM_001301683.2:c.1200T>C, NM_001301683.1:c.1200T>C, NM_001323586.2:c.1230T>C, NM_001323586.1:c.1230T>C, NR_136627.2:n.1786T>C, NR_136627.1:n.1816T>C, NM_001323584.2:c.1200T>C, NM_001323584.1:c.1200T>C, NM_001323588.2:c.606T>C, NM_001323588.1:c.606T>C, NR_136626.2:n.1651T>C, NR_136626.1:n.1681T>C, NM_001323587.2:c.606T>C, NM_001323587.1:c.606T>C

Select item 14791291547.

rs1479129154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:69208793 (GRCh38)
10:70968549 (GRCh37)
Canonical SPDI:: NC_000010.11:69208792:G:A
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.69208793G>A, NC_000010.10:g.70968549G>A, NM_003171.5:c.2119G>A, NM_003171.4:c.2119G>A, NM_003171.3:c.2119G>A, NM_001323585.2:c.1756G>A, NM_001323585.1:c.1756G>A, NM_001301683.2:c.1726G>A, NM_001301683.1:c.1726G>A, NM_001323586.2:c.1756G>A, NM_001323586.1:c.1756G>A, NR_136627.2:n.2236G>A, NR_136627.1:n.2266G>A, NM_001323584.2:c.1726G>A, NM_001323584.1:c.1726G>A, NM_001323588.2:c.1132G>A, NM_001323588.1:c.1132G>A, NR_136626.2:n.2101G>A, NR_136626.1:n.2131G>A, NM_001323587.2:c.1132G>A, NM_001323587.1:c.1132G>A, NP_003162.2:p.Ala707Thr, NP_001310514.1:p.Ala586Thr, NP_001288612.1:p.Ala576Thr, NP_001310515.1:p.Ala586Thr, NP_001310513.1:p.Ala576Thr, NP_001310517.1:p.Ala378Thr, NP_001310516.1:p.Ala378Thr

Select item 14755030438.

rs1475503043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:69197075 (GRCh38)
10:70956831 (GRCh37)
Canonical SPDI:: NC_000010.11:69197074:G:A
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69197075G>A, NC_000010.10:g.70956831G>A, NM_003171.5:c.1015G>A, NM_003171.4:c.1015G>A, NM_003171.3:c.1015G>A, NM_001323585.2:c.652G>A, NM_001323585.1:c.652G>A, NM_001301683.2:c.622G>A, NM_001301683.1:c.622G>A, NM_001323586.2:c.652G>A, NM_001323586.1:c.652G>A, NR_136627.2:n.1208G>A, NR_136627.1:n.1238G>A, NM_001323584.2:c.622G>A, NM_001323584.1:c.622G>A, NM_001323588.2:c.28G>A, NM_001323588.1:c.28G>A, NR_136626.2:n.1073G>A, NR_136626.1:n.1103G>A, NM_001323587.2:c.28G>A, NM_001323587.1:c.28G>A, NP_003162.2:p.Glu339Lys, NP_001310514.1:p.Glu218Lys, NP_001288612.1:p.Glu208Lys, NP_001310515.1:p.Glu218Lys, NP_001310513.1:p.Glu208Lys, NP_001310517.1:p.Glu10Lys, NP_001310516.1:p.Glu10Lys

Select item 14730353569.

rs1473035356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:69200495 (GRCh38)
10:70960251 (GRCh37)
Canonical SPDI:: NC_000010.11:69200494:T:C
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.69200495T>C, NC_000010.10:g.70960251T>C, NM_003171.5:c.1514T>C, NM_003171.4:c.1514T>C, NM_003171.3:c.1514T>C, NM_001323585.2:c.1151T>C, NM_001323585.1:c.1151T>C, NM_001301683.2:c.1121T>C, NM_001301683.1:c.1121T>C, NM_001323586.2:c.1151T>C, NM_001323586.1:c.1151T>C, NR_136627.2:n.1707T>C, NR_136627.1:n.1737T>C, NM_001323584.2:c.1121T>C, NM_001323584.1:c.1121T>C, NM_001323588.2:c.527T>C, NM_001323588.1:c.527T>C, NR_136626.2:n.1572T>C, NR_136626.1:n.1602T>C, NM_001323587.2:c.527T>C, NM_001323587.1:c.527T>C, NP_003162.2:p.Ile505Thr, NP_001310514.1:p.Ile384Thr, NP_001288612.1:p.Ile374Thr, NP_001310515.1:p.Ile384Thr, NP_001310513.1:p.Ile374Thr, NP_001310517.1:p.Ile176Thr, NP_001310516.1:p.Ile176Thr

Select item 147291962710.

rs1472919627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:69198468 (GRCh38)
10:70958224 (GRCh37)
Canonical SPDI:: NC_000010.11:69198467:A:T
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.69198468A>T, NC_000010.10:g.70958224A>T, NM_003171.5:c.1120A>T, NM_003171.4:c.1120A>T, NM_003171.3:c.1120A>T, NM_001323585.2:c.757A>T, NM_001323585.1:c.757A>T, NM_001301683.2:c.727A>T, NM_001301683.1:c.727A>T, NM_001323586.2:c.757A>T, NM_001323586.1:c.757A>T, NR_136627.2:n.1313A>T, NR_136627.1:n.1343A>T, NM_001323584.2:c.727A>T, NM_001323584.1:c.727A>T, NM_001323588.2:c.133A>T, NM_001323588.1:c.133A>T, NR_136626.2:n.1178A>T, NR_136626.1:n.1208A>T, NM_001323587.2:c.133A>T, NM_001323587.1:c.133A>T, NP_003162.2:p.Ser374Cys, NP_001310514.1:p.Ser253Cys, NP_001288612.1:p.Ser243Cys, NP_001310515.1:p.Ser253Cys, NP_001310513.1:p.Ser243Cys, NP_001310517.1:p.Ser45Cys, NP_001310516.1:p.Ser45Cys

Select item 147219294011.

rs1472192940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:69208784 (GRCh38)
10:70968540 (GRCh37)
Canonical SPDI:: NC_000010.11:69208783:A:C
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69208784A>C, NC_000010.10:g.70968540A>C, NM_003171.5:c.2110A>C, NM_003171.4:c.2110A>C, NM_003171.3:c.2110A>C, NM_001323585.2:c.1747A>C, NM_001323585.1:c.1747A>C, NM_001301683.2:c.1717A>C, NM_001301683.1:c.1717A>C, NM_001323586.2:c.1747A>C, NM_001323586.1:c.1747A>C, NR_136627.2:n.2227A>C, NR_136627.1:n.2257A>C, NM_001323584.2:c.1717A>C, NM_001323584.1:c.1717A>C, NM_001323588.2:c.1123A>C, NM_001323588.1:c.1123A>C, NR_136626.2:n.2092A>C, NR_136626.1:n.2122A>C, NM_001323587.2:c.1123A>C, NM_001323587.1:c.1123A>C, NP_003162.2:p.Lys704Gln, NP_001310514.1:p.Lys583Gln, NP_001288612.1:p.Lys573Gln, NP_001310515.1:p.Lys583Gln, NP_001310513.1:p.Lys573Gln, NP_001310517.1:p.Lys375Gln, NP_001310516.1:p.Lys375Gln

Select item 147066258012.

rs1470662580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:69197081 (GRCh38)
10:70956837 (GRCh37)
Canonical SPDI:: NC_000010.11:69197080:G:C
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69197081G>C, NC_000010.10:g.70956837G>C, NM_003171.5:c.1021G>C, NM_003171.4:c.1021G>C, NM_003171.3:c.1021G>C, NM_001323585.2:c.658G>C, NM_001323585.1:c.658G>C, NM_001301683.2:c.628G>C, NM_001301683.1:c.628G>C, NM_001323586.2:c.658G>C, NM_001323586.1:c.658G>C, NR_136627.2:n.1214G>C, NR_136627.1:n.1244G>C, NM_001323584.2:c.628G>C, NM_001323584.1:c.628G>C, NM_001323588.2:c.34G>C, NM_001323588.1:c.34G>C, NR_136626.2:n.1079G>C, NR_136626.1:n.1109G>C, NM_001323587.2:c.34G>C, NM_001323587.1:c.34G>C, NP_003162.2:p.Glu341Gln, NP_001310514.1:p.Glu220Gln, NP_001288612.1:p.Glu210Gln, NP_001310515.1:p.Glu220Gln, NP_001310513.1:p.Glu210Gln, NP_001310517.1:p.Glu12Gln, NP_001310516.1:p.Glu12Gln

Select item 146514950613.

rs1465149506 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:69199128 (GRCh38)
10:70958884 (GRCh37)
Canonical SPDI:: NC_000010.11:69199127:A:C,NC_000010.11:69199127:A:T
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69199128A>C, NC_000010.11:g.69199128A>T, NC_000010.10:g.70958884A>C, NC_000010.10:g.70958884A>T, NM_003171.5:c.1229A>C, NM_003171.5:c.1229A>T, NM_003171.4:c.1229A>C, NM_003171.4:c.1229A>T, NM_003171.3:c.1229A>C, NM_003171.3:c.1229A>T, NM_001323585.2:c.866A>C, NM_001323585.2:c.866A>T, NM_001323585.1:c.866A>C, NM_001323585.1:c.866A>T, NM_001301683.2:c.836A>C, NM_001301683.2:c.836A>T, NM_001301683.1:c.836A>C, NM_001301683.1:c.836A>T, NM_001323586.2:c.866A>C, NM_001323586.2:c.866A>T, NM_001323586.1:c.866A>C, NM_001323586.1:c.866A>T, NR_136627.2:n.1422A>C, NR_136627.2:n.1422A>T, NR_136627.1:n.1452A>C, NR_136627.1:n.1452A>T, NM_001323584.2:c.836A>C, NM_001323584.2:c.836A>T, NM_001323584.1:c.836A>C, NM_001323584.1:c.836A>T, NM_001323588.2:c.242A>C, NM_001323588.2:c.242A>T, NM_001323588.1:c.242A>C, NM_001323588.1:c.242A>T, NR_136626.2:n.1287A>C, NR_136626.2:n.1287A>T, NR_136626.1:n.1317A>C, NR_136626.1:n.1317A>T, NM_001323587.2:c.242A>C, NM_001323587.2:c.242A>T, NM_001323587.1:c.242A>C, NM_001323587.1:c.242A>T, NP_003162.2:p.Lys410Thr, NP_003162.2:p.Lys410Met, NP_001310514.1:p.Lys289Thr, NP_001310514.1:p.Lys289Met, NP_001288612.1:p.Lys279Thr, NP_001288612.1:p.Lys279Met, NP_001310515.1:p.Lys289Thr, NP_001310515.1:p.Lys289Met, NP_001310513.1:p.Lys279Thr, NP_001310513.1:p.Lys279Met, NP_001310517.1:p.Lys81Thr, NP_001310517.1:p.Lys81Met, NP_001310516.1:p.Lys81Thr, NP_001310516.1:p.Lys81Met

Select item 146441636514.

rs1464416365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:69198506 (GRCh38)
10:70958262 (GRCh37)
Canonical SPDI:: NC_000010.11:69198505:A:T
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.69198506A>T, NC_000010.10:g.70958262A>T, NM_003171.5:c.1158A>T, NM_003171.4:c.1158A>T, NM_003171.3:c.1158A>T, NM_001323585.2:c.795A>T, NM_001323585.1:c.795A>T, NM_001301683.2:c.765A>T, NM_001301683.1:c.765A>T, NM_001323586.2:c.795A>T, NM_001323586.1:c.795A>T, NR_136627.2:n.1351A>T, NR_136627.1:n.1381A>T, NM_001323584.2:c.765A>T, NM_001323584.1:c.765A>T, NM_001323588.2:c.171A>T, NM_001323588.1:c.171A>T, NR_136626.2:n.1216A>T, NR_136626.1:n.1246A>T, NM_001323587.2:c.171A>T, NM_001323587.1:c.171A>T, NP_003162.2:p.Glu386Asp, NP_001310514.1:p.Glu265Asp, NP_001288612.1:p.Glu255Asp, NP_001310515.1:p.Glu265Asp, NP_001310513.1:p.Glu255Asp, NP_001310517.1:p.Glu57Asp, NP_001310516.1:p.Glu57Asp

Select item 145948446315.

rs1459484463 [Homo sapiens]

Variant type:: DEL
Alleles:: GGA>- [Show Flanks]
Chromosome:: 10:69208983 (GRCh38)
10:70968739 (GRCh37)
Canonical SPDI:: NC_000010.11:69208982:GGA:
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.69208983_69208985del, NC_000010.10:g.70968739_70968741del, NM_003171.5:c.2309_2311del, NM_003171.4:c.2309_2311del, NM_003171.3:c.2309_2311del, NM_001323585.2:c.1946_1948del, NM_001323585.1:c.1946_1948del, NM_001301683.2:c.1916_1918del, NM_001301683.1:c.1916_1918del, NM_001323586.2:c.1946_1948del, NM_001323586.1:c.1946_1948del, NR_136627.2:n.2426_2428del, NR_136627.1:n.2456_2458del, NM_001323584.2:c.1916_1918del, NM_001323584.1:c.1916_1918del, NM_001323588.2:c.1322_1324del, NM_001323588.1:c.1322_1324del, NR_136626.2:n.2291_2293del, NR_136626.1:n.2321_2323del, NM_001323587.2:c.1322_1324del, NM_001323587.1:c.1322_1324del, NP_003162.2:p.Gly770_Thr771delinsAla, NP_001310514.1:p.Gly649_Thr650delinsAla, NP_001288612.1:p.Gly639_Thr640delinsAla, NP_001310515.1:p.Gly649_Thr650delinsAla, NP_001310513.1:p.Gly639_Thr640delinsAla, NP_001310517.1:p.Gly441_Thr442delinsAla, NP_001310516.1:p.Gly441_Thr442delinsAla

Select item 145911359116.

rs1459113591 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:69187466 (GRCh38)
10:70947222 (GRCh37)
Canonical SPDI:: NC_000010.11:69187465:G:C
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000022/3 (GnomAD)
HGVS:: NC_000010.11:g.69187466G>C, NC_000010.10:g.70947222G>C, NM_001323585.2:c.94G>C, NM_001323585.1:c.94G>C, NM_001323586.2:c.94G>C, NM_001323586.1:c.94G>C, NP_001310514.1:p.Ala32Pro, NP_001310515.1:p.Ala32Pro

Select item 145758467617.

rs1457584676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:69200305 (GRCh38)
10:70960061 (GRCh37)
Canonical SPDI:: NC_000010.11:69200304:T:C
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.69200305T>C, NC_000010.10:g.70960061T>C, NM_003171.5:c.1324T>C, NM_003171.4:c.1324T>C, NM_003171.3:c.1324T>C, NM_001323585.2:c.961T>C, NM_001323585.1:c.961T>C, NM_001301683.2:c.931T>C, NM_001301683.1:c.931T>C, NM_001323586.2:c.961T>C, NM_001323586.1:c.961T>C, NR_136627.2:n.1517T>C, NR_136627.1:n.1547T>C, NM_001323584.2:c.931T>C, NM_001323584.1:c.931T>C, NM_001323588.2:c.337T>C, NM_001323588.1:c.337T>C, NR_136626.2:n.1382T>C, NR_136626.1:n.1412T>C, NM_001323587.2:c.337T>C, NM_001323587.1:c.337T>C, NP_003162.2:p.Ser442Pro, NP_001310514.1:p.Ser321Pro, NP_001288612.1:p.Ser311Pro, NP_001310515.1:p.Ser321Pro, NP_001310513.1:p.Ser311Pro, NP_001310517.1:p.Ser113Pro, NP_001310516.1:p.Ser113Pro

Select item 145649727818.

rs1456497278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:69197041 (GRCh38)
10:70956797 (GRCh37)
Canonical SPDI:: NC_000010.11:69197040:C:G,NC_000010.11:69197040:C:T
Gene:: SUPV3L1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.69197041C>G, NC_000010.11:g.69197041C>T, NC_000010.10:g.70956797C>G, NC_000010.10:g.70956797C>T, NM_003171.5:c.981C>G, NM_003171.5:c.981C>T, NM_003171.4:c.981C>G, NM_003171.4:c.981C>T, NM_003171.3:c.981C>G, NM_003171.3:c.981C>T, NM_001323585.2:c.618C>G, NM_001323585.2:c.618C>T, NM_001323585.1:c.618C>G, NM_001323585.1:c.618C>T, NM_001301683.2:c.588C>G, NM_001301683.2:c.588C>T, NM_001301683.1:c.588C>G, NM_001301683.1:c.588C>T, NM_001323586.2:c.618C>G, NM_001323586.2:c.618C>T, NM_001323586.1:c.618C>G, NM_001323586.1:c.618C>T, NR_136627.2:n.1174C>G, NR_136627.2:n.1174C>T, NR_136627.1:n.1204C>G, NR_136627.1:n.1204C>T, NM_001323584.2:c.588C>G, NM_001323584.2:c.588C>T, NM_001323584.1:c.588C>G, NM_001323584.1:c.588C>T, NM_001323588.2:c.-7C>G, NM_001323588.2:c.-7C>T, NM_001323588.1:c.-7C>G, NM_001323588.1:c.-7C>T, NR_136626.2:n.1039C>G, NR_136626.2:n.1039C>T, NR_136626.1:n.1069C>G, NR_136626.1:n.1069C>T, NM_001323587.2:c.-7C>G, NM_001323587.2:c.-7C>T, NM_001323587.1:c.-7C>G, NM_001323587.1:c.-7C>T, NP_003162.2:p.Asp327Glu, NP_001310514.1:p.Asp206Glu, NP_001288612.1:p.Asp196Glu, NP_001310515.1:p.Asp206Glu, NP_001310513.1:p.Asp196Glu

Select item 145408360219.

rs1454083602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:69208929 (GRCh38)
10:70968685 (GRCh37)
Canonical SPDI:: NC_000010.11:69208928:A:G
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69208929A>G, NC_000010.10:g.70968685A>G, NM_003171.5:c.2255A>G, NM_003171.4:c.2255A>G, NM_003171.3:c.2255A>G, NM_001323585.2:c.1892A>G, NM_001323585.1:c.1892A>G, NM_001301683.2:c.1862A>G, NM_001301683.1:c.1862A>G, NM_001323586.2:c.1892A>G, NM_001323586.1:c.1892A>G, NR_136627.2:n.2372A>G, NR_136627.1:n.2402A>G, NM_001323584.2:c.1862A>G, NM_001323584.1:c.1862A>G, NM_001323588.2:c.1268A>G, NM_001323588.1:c.1268A>G, NR_136626.2:n.2237A>G, NR_136626.1:n.2267A>G, NM_001323587.2:c.1268A>G, NM_001323587.1:c.1268A>G, NP_003162.2:p.Glu752Gly, NP_001310514.1:p.Glu631Gly, NP_001288612.1:p.Glu621Gly, NP_001310515.1:p.Glu631Gly, NP_001310513.1:p.Glu621Gly, NP_001310517.1:p.Glu423Gly, NP_001310516.1:p.Glu423Gly

Select item 145313843020.

rs1453138430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:69199145 (GRCh38)
10:70958901 (GRCh37)
Canonical SPDI:: NC_000010.11:69199144:G:C
Gene:: SUPV3L1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.69199145G>C, NC_000010.10:g.70958901G>C, NM_003171.5:c.1246G>C, NM_003171.4:c.1246G>C, NM_003171.3:c.1246G>C, NM_001323585.2:c.883G>C, NM_001323585.1:c.883G>C, NM_001301683.2:c.853G>C, NM_001301683.1:c.853G>C, NM_001323586.2:c.883G>C, NM_001323586.1:c.883G>C, NR_136627.2:n.1439G>C, NR_136627.1:n.1469G>C, NM_001323584.2:c.853G>C, NM_001323584.1:c.853G>C, NM_001323588.2:c.259G>C, NM_001323588.1:c.259G>C, NR_136626.2:n.1304G>C, NR_136626.1:n.1334G>C, NM_001323587.2:c.259G>C, NM_001323587.1:c.259G>C, NP_003162.2:p.Asp416His, NP_001310514.1:p.Asp295His, NP_001288612.1:p.Asp285His, NP_001310515.1:p.Asp295His, NP_001310513.1:p.Asp285His, NP_001310517.1:p.Asp87His, NP_001310516.1:p.Asp87His

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Result Filters

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Items: 1 to 20 of 533

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