SORD - SNP - NCBI

Search results

Items: 1 to 20 of 21722

<< First< Prev

Page of 1087

Next >Last >>

Select item 9303371.

rs930337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:45072336 (GRCh38)
15:45364534 (GRCh37)
Canonical SPDI:: NC_000015.10:45072335:A:C
Gene:: SORD (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.13429/3033 (ALFA)
C=0.09291/2819 (ExAC)
A=0.11215/24 (Qatari)
A=0.14859/74 (SGDP_PRJ)
A=0.16554/2766 (TOMMO)
A=0.16655/480 (KOREAN)
C=0.2335/14141 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45072336A>C, NC_000015.9:g.45364534A>C, NM_003104.6:c.806A>C, NM_003104.5:c.806A>C, NR_034039.2:n.980A>C, NR_034039.1:n.1071A>C, NP_003095.2:p.Asn269Thr

Select item 10420792.

rs1042079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:45068982 (GRCh38)
15:45361180 (GRCh37)
Canonical SPDI:: NC_000015.10:45068981:A:G,NC_000015.10:45068981:A:T
Gene:: SORD (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.133365/2794 (ALFA)
T=0.014981/8 (MGP)
T=0.061548/1031 (TOMMO)
T=0.129706/379 (KOREAN)
T=0.178333/107 (NorthernSweden)
T=0.24537/53 (Qatari)
T=0.270567/34731 (GnomAD)
T=0.280762/1406 (1000Genomes)
T=0.292257/3797 (GoESP)
A=0.36/72 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45068982A>G, NC_000015.10:g.45068982A>T, NC_000015.9:g.45361180A>G, NC_000015.9:g.45361180A>T, NM_003104.6:c.716A>G, NM_003104.6:c.716A>T, NM_003104.5:c.716A>G, NM_003104.5:c.716A>T, NR_034039.2:n.890A>G, NR_034039.2:n.890A>T, NR_034039.1:n.981A>G, NR_034039.1:n.981A>T, NP_003095.2:p.Gln239Arg, NP_003095.2:p.Gln239Leu

Select item 10420973.

rs1042097 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:45073564 (GRCh38)
15:45365762 (GRCh37)
Canonical SPDI:: NC_000015.10:45073563:T:C,NC_000015.10:45073563:T:G
Gene:: SORD (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.16019/3009 (ALFA)
C=0.018727/10 (MGP)
C=0.212425/212 (GoNL)
C=0.229795/671 (KOREAN)
C=0.230296/50298 (GnomAD_exomes)
C=0.245629/4116 (TOMMO)
C=0.28972/62 (Qatari)
C=0.360712/2310 (1000Genomes)
T=0.413793/120 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45073564T>C, NC_000015.10:g.45073564T>G, NC_000015.9:g.45365762T>C, NC_000015.9:g.45365762T>G, NM_003104.6:c.*34T>C, NM_003104.6:c.*34T>G, NM_003104.5:c.*34T>C, NM_003104.5:c.*34T>G, NR_034039.2:n.1282T>C, NR_034039.2:n.1282T>G, NR_034039.1:n.1373T>C, NR_034039.1:n.1373T>G

Select item 10421124.

rs1042112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:45073592 (GRCh38)
15:45365790 (GRCh37)
Canonical SPDI:: NC_000015.10:45073591:T:C,NC_000015.10:45073591:T:G
Gene:: SORD (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0854/840 (ALFA)
C=0.0618/33 (MGP)
C=0.1894/553 (KOREAN)
C=0.2778/60 (Qatari)
C=0.3097/1551 (1000Genomes)
T=0.4271/123 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45073592T>C, NC_000015.10:g.45073592T>G, NC_000015.9:g.45365790T>C, NC_000015.9:g.45365790T>G, NM_003104.6:c.*62T>C, NM_003104.6:c.*62T>G, NM_003104.5:c.*62T>C, NM_003104.5:c.*62T>G, NR_034039.2:n.1310T>C, NR_034039.2:n.1310T>G, NR_034039.1:n.1401T>C, NR_034039.1:n.1401T>G

Select item 20196515.

rs2019651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:45068389 (GRCh38)
15:45360587 (GRCh37)
Canonical SPDI:: NC_000015.10:45068388:G:C,NC_000015.10:45068388:G:T
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.006699/123 (ALFA)
G=0./0 (GENOME_DK)
G=0./0 (NorthernSweden)
G=0./0 (Siberian)
G=0.001348/5 (TWINSUK)
G=0.001771/30 (TOMMO)
G=0.001816/7 (ALSPAC)
G=0.002183/4 (Korea1K)
G=0.002389/7 (KOREAN)
G=0.007194/4 (SGDP_PRJ)
G=0.009665/1352 (GnomAD)
G=0.009845/2606 (TOPMED)
G=0.012492/63 (1000Genomes)
G=0.013889/3 (Vietnamese)
G=0.018519/4 (Qatari)
T=0.32397/173 (MGP)
HGVS:: NC_000015.10:g.45068389G>C, NC_000015.10:g.45068389G>T, NC_000015.9:g.45360587G>C, NC_000015.9:g.45360587G>T

Select item 22296566.

rs2229656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:45065349 (GRCh38)
15:45357547 (GRCh37)
Canonical SPDI:: NC_000015.10:45065348:C:T
Gene:: SORD (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003668/182 (ALFA)
T=0.003413/857 (GnomAD_exomes)
T=0.004067/493 (ExAC)
T=0.005618/3 (MGP)
T=0.013239/172 (GoESP)
T=0.013554/1900 (GnomAD)
T=0.013956/3694 (TOPMED)
T=0.015459/77 (1000Genomes)
T=0.027778/6 (Qatari)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45065349C>T, NC_000015.9:g.45357547C>T, NM_003104.6:c.504C>T, NM_003104.5:c.504C>T, NR_034039.2:n.678C>T, NR_034039.1:n.769C>T

Select item 24129467.

rs2412946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:45073526 (GRCh38)
15:45365724 (GRCh37)
Canonical SPDI:: NC_000015.10:45073525:C:A,NC_000015.10:45073525:C:T
Gene:: SORD (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.1749/5887 (ALFA)
T=0.00749/4 (MGP)
T=0.19692/575 (KOREAN)
T=0.21721/3640 (TOMMO)
T=0.25701/55 (Qatari)
T=0.26413/3392 (GoESP)
T=0.31309/2005 (1000Genomes)
C=0.48347/117 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45073526C>A, NC_000015.10:g.45073526C>T, NC_000015.9:g.45365724C>A, NC_000015.9:g.45365724C>T, NM_003104.6:c.1070C>A, NM_003104.6:c.1070C>T, NM_003104.5:c.1070C>A, NM_003104.5:c.1070C>T, NR_034039.2:n.1244C>A, NR_034039.2:n.1244C>T, NR_034039.1:n.1335C>A, NR_034039.1:n.1335C>T, NP_003095.2:p.Pro357His, NP_003095.2:p.Pro357Leu

Select item 28544378.

rs2854437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:45065212 (GRCh38)
15:45357410 (GRCh37)
Canonical SPDI:: NC_000015.10:45065211:T:G
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.223822/4228 (ALFA)
T=0.05/2 (GENOME_DK)
T=0.12/72 (NorthernSweden)
T=0.125251/125 (GoNL)
T=0.148707/69 (SGDP_PRJ)
T=0.161049/86 (MGP)
T=0.174528/37 (Vietnamese)
T=0.199074/43 (Qatari)
T=0.211538/11 (Siberian)
T=0.223618/3748 (TOMMO)
T=0.225437/413 (Korea1K)
T=0.226621/664 (KOREAN)
T=0.305524/42818 (GnomAD)
T=0.319555/84583 (TOPMED)
T=0.3401/1703 (1000Genomes)
HGVS:: NC_000015.10:g.45065212T>G, NC_000015.9:g.45357410T>G

Select item 28544469.

rs2854446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:45061032 (GRCh38)
15:45353230 (GRCh37)
Canonical SPDI:: NC_000015.10:45061031:C:G,NC_000015.10:45061031:C:T
Gene:: SORD (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.11557/2016 (ALFA)
C=0.081169/50 (Vietnamese)
C=0.101493/1701 (TOMMO)
C=0.104307/402 (ALSPAC)
C=0.104639/388 (TWINSUK)
C=0.108216/108 (GoNL)
C=0.11/66 (NorthernSweden)
C=0.114927/30420 (TOPMED)
C=0.116724/342 (KOREAN)
C=0.122047/62 (SGDP_PRJ)
C=0.123333/37 (FINRISK)
C=0.125/5 (GENOME_DK)
C=0.125539/1631 (GoESP)
C=0.129213/69 (MGP)
C=0.134603/674 (1000Genomes)
C=0.138889/30 (Qatari)
C=0.142857/8 (Siberian)
HGVS:: NC_000015.10:g.45061032C>G, NC_000015.10:g.45061032C>T, NC_000015.9:g.45353230C>G, NC_000015.9:g.45353230C>T, NR_034039.2:n.405C>G, NR_034039.2:n.405C>T, NR_034039.1:n.496C>G, NR_034039.1:n.496C>T

Select item 2849526510.

rs28495265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:45072449 (GRCh38)
15:45364647 (GRCh37)
Canonical SPDI:: NC_000015.10:45072448:C:A,NC_000015.10:45072448:C:G,NC_000015.10:45072448:C:T
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.425721/2774 (ALFA)
A=0.000009/1 (GnomAD)
C=0.072995/213 (KOREAN)
C=0.073672/1197 (TOMMO)
T=0.133991/2362 (ExAC)
C=0.167391/77 (SGDP_PRJ)
C=0.203704/44 (Qatari)
T=0.207267/10370 (GnomAD_exomes)
HGVS:: NC_000015.10:g.45072449C>A, NC_000015.10:g.45072449C>G, NC_000015.10:g.45072449C>T, NC_000015.9:g.45364647C>A, NC_000015.9:g.45364647C>G, NC_000015.9:g.45364647C>T

Select item 2866228711.

rs28662287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:45068813 (GRCh38)
15:45361011 (GRCh37)
Canonical SPDI:: NC_000015.10:45068812:C:G,NC_000015.10:45068812:C:T
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.24558/4639 (ALFA)
T=0.001873/1 (MGP)
C=0.075/3 (GENOME_DK)
T=0.105159/53 (HapMap)
C=0.124865/463 (TWINSUK)
C=0.131033/505 (ALSPAC)
C=0.145/87 (NorthernSweden)
C=0.153307/153 (GoNL)
C=0.165948/77 (SGDP_PRJ)
C=0.231987/425 (Korea1K)
C=0.239234/700 (KOREAN)
C=0.241106/4040 (TOMMO)
C=0.259259/56 (Qatari)
C=0.34166/46653 (GnomAD)
C=0.350161/92684 (TOPMED)
C=0.37945/1900 (1000Genomes)
C=0.5/1 (Siberian)
HGVS:: NC_000015.10:g.45068813C>G, NC_000015.10:g.45068813C>T, NC_000015.9:g.45361011C>G, NC_000015.9:g.45361011C>T

PubMed LitVar

Select item 2870964412.

rs28709644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:45065211 (GRCh38)
15:45357409 (GRCh37)
Canonical SPDI:: NC_000015.10:45065210:A:T
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.073434/1360 (ALFA)
T=0.030294/152 (1000Genomes)
T=0.062239/16474 (TOPMED)
T=0.065/39 (NorthernSweden)
T=0.065447/9180 (GnomAD)
T=0.075/3 (GENOME_DK)
T=0.089888/48 (MGP)
T=0.092593/20 (Qatari)
A=0.5/12 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000015.10:g.45065211A>T, NC_000015.9:g.45357409A>T

Select item 5571304713.

rs55713047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:45069043 (GRCh38)
15:45361241 (GRCh37)
Canonical SPDI:: NC_000015.10:45069042:G:A,NC_000015.10:45069042:G:C
Gene:: SORD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.014634/680 (ALFA)
A=0.014024/52 (TWINSUK)
A=0.01453/56 (ALSPAC)
A=0.015/9 (NorthernSweden)
A=0.018286/4417 (GnomAD_exomes)
A=0.018519/4 (Qatari)
A=0.020407/2850 (GnomAD)
A=0.024048/24 (GoNL)
A=0.02544/2741 (ExAC)
A=0.027014/135 (1000Genomes)
A=0.035175/457 (GoESP)
A=0.040787/684 (TOMMO)
A=0.061644/180 (KOREAN)
G=0.34375/11 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45069043G>A, NC_000015.10:g.45069043G>C, NC_000015.9:g.45361241G>A, NC_000015.9:g.45361241G>C, NM_003104.6:c.777G>A, NM_003104.6:c.777G>C, NM_003104.5:c.777G>A, NM_003104.5:c.777G>C, NR_034039.2:n.951G>A, NR_034039.2:n.951G>C, NR_034039.1:n.1042G>A, NR_034039.1:n.1042G>C

Select item 5580053614.

rs55800536 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:45068857 (GRCh38)
15:45361055 (GRCh37)
Canonical SPDI:: NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:45068848:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.0043/16 (TWINSUK)
T=0.0067/26 (ALSPAC)
T=0.3329/1667 (1000Genomes)
HGVS:: NC_000015.10:g.45068857_45068868del, NC_000015.10:g.45068863_45068868del, NC_000015.10:g.45068864_45068868del, NC_000015.10:g.45068865_45068868del, NC_000015.10:g.45068866_45068868del, NC_000015.10:g.45068867_45068868del, NC_000015.10:g.45068868del, NC_000015.10:g.45068868dup, NC_000015.10:g.45068867_45068868dup, NC_000015.10:g.45068866_45068868dup, NC_000015.10:g.45068861_45068868dup, NC_000015.10:g.45068855_45068868dup, NC_000015.10:g.45068850_45068868dup, NC_000015.9:g.45361055_45361066del, NC_000015.9:g.45361061_45361066del, NC_000015.9:g.45361062_45361066del, NC_000015.9:g.45361063_45361066del, NC_000015.9:g.45361064_45361066del, NC_000015.9:g.45361065_45361066del, NC_000015.9:g.45361066del, NC_000015.9:g.45361066dup, NC_000015.9:g.45361065_45361066dup, NC_000015.9:g.45361064_45361066dup, NC_000015.9:g.45361059_45361066dup, NC_000015.9:g.45361053_45361066dup, NC_000015.9:g.45361048_45361066dup

Select item 5588108615.

rs55881086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:45069087 (GRCh38)
15:45361285 (GRCh37)
Canonical SPDI:: NC_000015.10:45069086:A:C,NC_000015.10:45069086:A:G
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.007237/183 (ALFA)
G=0.003006/3 (GoNL)
G=0.004821/644 (GnomAD)
G=0.013117/84 (1000Genomes)
G=0.013889/3 (Qatari)
G=0.01943/326 (TOMMO)
G=0.028384/52 (Korea1K)
G=0.069131/202 (KOREAN)
A=0.464286/13 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45069087A>C, NC_000015.10:g.45069087A>G, NC_000015.9:g.45361285A>C, NC_000015.9:g.45361285A>G

Select item 5590154216.

rs55901542 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 15:45069022 (GRCh38)
15:45361220 (GRCh37)
Canonical SPDI:: NC_000015.10:45069018:GGGGG:GGG,NC_000015.10:45069018:GGGGG:GGGG
Gene:: SORD (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-pathogenic,pathogenic,pathogenic-likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.002799/77 (ALFA)
-=0.000085/21 (GnomAD_exomes)
-=0.001092/2 (Korea1K)
-=0.002406/40 (TOMMO)
-=0.003333/2 (NorthernSweden)
-=0.004372/28 (1000Genomes)
HGVS:: NC_000015.10:g.45069022_45069023del, NC_000015.10:g.45069023del, NC_000015.9:g.45361220_45361221del, NC_000015.9:g.45361221del, NM_003104.6:c.756_757del, NM_003104.6:c.757del, NM_003104.5:c.756_757del, NM_003104.5:c.757del, NR_034039.2:n.930_931del, NR_034039.2:n.931del, NR_034039.1:n.1021_1022del, NR_034039.1:n.1022del, NP_003095.2:p.Ala253fs, NP_003095.2:p.Ala253fs

Select item 5788043217.

rs57880432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:45069204 (GRCh38)
15:45361402 (GRCh37)
Canonical SPDI:: NC_000015.10:45069203:T:A,NC_000015.10:45069203:T:C
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.08087/929 (ALFA)
C=0.00985/18 (Korea1K)
C=0.01/6 (NorthernSweden)
C=0.01101/142 (TOMMO)
C=0.04729/138 (KOREAN)
C=0.06481/14 (Qatari)
T=0.5/4 (Siberian)
T=0.5/61 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45069204T>A, NC_000015.10:g.45069204T>C, NC_000015.9:g.45361402T>A, NC_000015.9:g.45361402T>C

Select item 5996014418.

rs59960144 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 15:45069181 (GRCh38)
15:45361379 (GRCh37)
Canonical SPDI:: NC_000015.10:45069180:A:C,NC_000015.10:45069180:A:G,NC_000015.10:45069180:A:T
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.018581/11 (NorthernSweden)
C=0.028056/28 (GoNL)
C=0.047635/139 (KOREAN)
C=0.05/2 (GENOME_DK)
C=0.184238/48766 (TOPMED)
C=0.20534/1028 (1000Genomes)
C=0.249895/22657 (GnomAD)
A=0.25/1 (Siberian)
A=0.307018/35 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45069181A>C, NC_000015.10:g.45069181A>G, NC_000015.10:g.45069181A>T, NC_000015.9:g.45361379A>C, NC_000015.9:g.45361379A>G, NC_000015.9:g.45361379A>T

Select item 7148027819.

rs71480278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:45060867 (GRCh38)
15:45353065 (GRCh37)
Canonical SPDI:: NC_000015.10:45060866:G:A
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.079853/1304 (ALFA)
A=0.033442/560 (TOMMO)
A=0.045859/134 (KOREAN)
A=0.054809/351 (1000Genomes)
A=0.06688/8737 (GnomAD)
A=0.077154/77 (GoNL)
A=0.12037/26 (Qatari)
G=0.428571/30 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45060867G>A, NC_000015.9:g.45353065G>A

Select item 7148028020.

rs71480280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:45072571 (GRCh38)
15:45364769 (GRCh37)
Canonical SPDI:: NC_000015.10:45072570:G:A,NC_000015.10:45072570:G:C
Gene:: SORD (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.062307/2382 (ALFA)
A=0.034041/170 (1000Genomes)
A=0.046729/10 (Qatari)
A=0.05/2 (GENOME_DK)
A=0.064128/64 (GoNL)
A=0.064398/8654 (GnomAD)
A=0.073034/39 (MGP)
A=0.073333/44 (NorthernSweden)
G=0.5/1 (Siberian)
G=0.5/17 (SGDP_PRJ)
HGVS:: NC_000015.10:g.45072571G>A, NC_000015.10:g.45072571G>C, NC_000015.9:g.45364769G>A, NC_000015.9:g.45364769G>C

<< First< Prev

Page of 1087

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 21722

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity