COL17A1 - SNP

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Select item 94251.

rs9425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104031597 (GRCh38)
10:105791355 (GRCh37)
Canonical SPDI:: NC_000010.11:104031596:C:T
Gene:: COL17A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.171624/42848 (ALFA)
T=0.061869/49 (PRJEB37584)
T=0.075633/221 (KOREAN)
T=0.121495/26 (Vietnamese)
T=0.12963/28 (Qatari)
T=0.136245/2283 (TOMMO)
T=0.16165/623 (ALSPAC)
T=0.170341/170 (GoNL)
T=0.173409/643 (TWINSUK)
T=0.186047/352 (HapMap)
T=0.186161/834 (Estonian)
T=0.191599/960 (1000Genomes)
T=0.194805/51563 (TOPMED)
T=0.198948/27846 (GnomAD)
T=0.206613/16260 (PAGE_STUDY)
T=0.215/129 (NorthernSweden)
T=0.25/10 (GENOME_DK)
C=0.421053/80 (SGDP_PRJ)
C=0.5/7 (Siberian)
HGVS:: NC_000010.11:g.104031597C>T, NC_000010.10:g.105791355C>T, NG_007069.1:g.59284G>A, NM_000494.4:c.*638G>A, NM_000494.3:c.*638G>A

Select item 8056872.

rs805687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:104032171 (GRCh38)
10:105791929 (GRCh37)
Canonical SPDI:: NC_000010.11:104032170:C:G
Gene:: COL17A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.211242/4254 (ALFA)
G=0.075975/222 (KOREAN)
G=0.136245/2283 (TOMMO)
G=0.157407/34 (Qatari)
G=0.162429/626 (ALSPAC)
G=0.171343/171 (GoNL)
G=0.174218/646 (TWINSUK)
G=0.17603/94 (MGP)
G=0.185938/833 (Estonian)
G=0.213333/128 (NorthernSweden)
G=0.231078/61164 (TOPMED)
G=0.231932/1059 (GoESP)
G=0.232103/32519 (GnomAD)
G=0.233292/1168 (1000Genomes)
G=0.25/10 (GENOME_DK)
G=0.268293/88 (HapMap)
C=0.424528/90 (SGDP_PRJ)
C=0.5/7 (Siberian)
HGVS:: NC_000010.11:g.104032171C>G, NC_000010.10:g.105791929C>G, NG_007069.1:g.58710G>C, NM_000494.4:c.*64G>C, NM_000494.3:c.*64G>C

Select item 8056883.

rs805688 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:104032319 (GRCh38)
10:105792077 (GRCh37)
Canonical SPDI:: NC_000010.11:104032318:A:G
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.226082/7921 (ALFA)
G=0.099932/292 (KOREAN)
G=0.108624/199 (Korea1K)
G=0.16129/10 (PRJEB36033)
G=0.163989/2748 (TOMMO)
G=0.173486/106 (Vietnamese)
G=0.186373/186 (GoNL)
G=0.188895/728 (ALSPAC)
G=0.192287/713 (TWINSUK)
G=0.194888/122 (Chileans)
G=0.20692/927 (Estonian)
G=0.207865/111 (MGP)
G=0.210526/64 (FINRISK)
G=0.212963/46 (Qatari)
G=0.22098/55375 (GnomAD_exomes)
G=0.22633/27337 (ExAC)
G=0.25/10 (GENOME_DK)
G=0.257465/36078 (GnomAD)
G=0.257777/68231 (TOPMED)
G=0.259419/3374 (GoESP)
G=0.274313/519 (HapMap)
G=0.28045/1404 (1000Genomes)
G=0.288333/173 (NorthernSweden)
A=0.389706/106 (SGDP_PRJ)
A=0.5/8 (Siberian)
HGVS:: NC_000010.11:g.104032319A>G, NC_000010.10:g.105792077A>G, NG_007069.1:g.58562T>C

Select item 8056894.

rs805689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:104054381 (GRCh38)
10:105814139 (GRCh37)
Canonical SPDI:: NC_000010.11:104054380:C:A,NC_000010.11:104054380:C:G,NC_000010.11:104054380:C:T
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.359778/6476 (ALFA)
G=0./0 (KOREAN)
C=0.24/12 (Siberian)
C=0.257642/472 (Korea1K)
C=0.265848/1191 (Estonian)
C=0.280561/280 (GoNL)
C=0.283019/120 (SGDP_PRJ)
C=0.285795/4790 (TOMMO)
C=0.295018/1137 (ALSPAC)
C=0.298544/1107 (TWINSUK)
C=0.345/207 (NorthernSweden)
C=0.347222/75 (Qatari)
C=0.347619/73 (Vietnamese)
C=0.375/15 (GENOME_DK)
C=0.404167/56572 (GnomAD)
C=0.407061/107745 (TOPMED)
C=0.438788/2197 (1000Genomes)
C=0.478788/158 (HapMap)
HGVS:: NC_000010.11:g.104054381C>A, NC_000010.11:g.104054381C>G, NC_000010.11:g.104054381C>T, NC_000010.10:g.105814139C>A, NC_000010.10:g.105814139C>G, NC_000010.10:g.105814139C>T, NG_007069.1:g.36500G>T, NG_007069.1:g.36500G>C, NG_007069.1:g.36500G>A

Select item 8056905.

rs805690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:104054701 (GRCh38)
10:105814459 (GRCh37)
Canonical SPDI:: NC_000010.11:104054700:A:C,NC_000010.11:104054700:A:G,NC_000010.11:104054700:A:T
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
A=0.24/12 (Siberian)
A=0.24345/446 (Korea1K)
A=0.265179/1188 (Estonian)
A=0.276553/276 (GoNL)
A=0.278718/4671 (TOMMO)
A=0.279126/115 (SGDP_PRJ)
A=0.291126/1122 (ALSPAC)
A=0.295847/1097 (TWINSUK)
A=0.345/207 (NorthernSweden)
A=0.352381/74 (Vietnamese)
A=0.356481/77 (Qatari)
A=0.375/15 (GENOME_DK)
A=0.419834/58728 (GnomAD)
A=0.422547/111844 (TOPMED)
A=0.453779/2273 (1000Genomes)
HGVS:: NC_000010.11:g.104054701A>C, NC_000010.11:g.104054701A>G, NC_000010.11:g.104054701A>T, NC_000010.10:g.105814459A>C, NC_000010.10:g.105814459A>G, NC_000010.10:g.105814459A>T, NG_007069.1:g.36180T>G, NG_007069.1:g.36180T>C, NG_007069.1:g.36180T>A

Select item 8056916.

rs805691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:104055068 (GRCh38)
10:105814826 (GRCh37)
Canonical SPDI:: NC_000010.11:104055067:C:A,NC_000010.11:104055067:C:G,NC_000010.11:104055067:C:T
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.453425/10076 (ALFA)
T=0./0 (KOREAN)
C=0.24/12 (Siberian)
C=0.245087/449 (Korea1K)
C=0.253994/159 (Chileans)
C=0.264955/1187 (Estonian)
C=0.276553/276 (GoNL)
C=0.279126/115 (SGDP_PRJ)
C=0.280239/4697 (TOMMO)
C=0.292423/1127 (ALSPAC)
C=0.294118/20 (PRJEB36033)
C=0.296386/1099 (TWINSUK)
C=0.343333/206 (NorthernSweden)
C=0.344569/184 (MGP)
C=0.361111/78 (Qatari)
C=0.364486/78 (Vietnamese)
C=0.375/15 (GENOME_DK)
C=0.413272/1887 (GoESP)
C=0.423359/112059 (TOPMED)
C=0.454716/2277 (1000Genomes)
C=0.456614/863 (HapMap)
HGVS:: NC_000010.11:g.104055068C>A, NC_000010.11:g.104055068C>G, NC_000010.11:g.104055068C>T, NC_000010.10:g.105814826C>A, NC_000010.10:g.105814826C>G, NC_000010.10:g.105814826C>T, NG_007069.1:g.35813G>T, NG_007069.1:g.35813G>C, NG_007069.1:g.35813G>A

Select item 8056927.

rs805692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:104055179 (GRCh38)
10:105814937 (GRCh37)
Canonical SPDI:: NC_000010.11:104055178:C:A,NC_000010.11:104055178:C:G,NC_000010.11:104055178:C:T
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.342665/8213 (ALFA)
G=0./0 (KOREAN)
T=0.037453/20 (MGP)
C=0.24/12 (Siberian)
C=0.245633/450 (Korea1K)
C=0.265179/1188 (Estonian)
C=0.276553/276 (GoNL)
C=0.279178/4679 (TOMMO)
C=0.282407/122 (SGDP_PRJ)
C=0.292164/1126 (ALSPAC)
C=0.295307/1095 (TWINSUK)
C=0.337963/73 (Qatari)
C=0.343333/206 (NorthernSweden)
C=0.353774/75 (Vietnamese)
C=0.375/15 (GENOME_DK)
C=0.380822/53261 (GnomAD)
C=0.382735/101306 (TOPMED)
C=0.415365/2080 (1000Genomes)
C=0.419133/793 (HapMap)
HGVS:: NC_000010.11:g.104055179C>A, NC_000010.11:g.104055179C>G, NC_000010.11:g.104055179C>T, NC_000010.10:g.105814937C>A, NC_000010.10:g.105814937C>G, NC_000010.10:g.105814937C>T, NG_007069.1:g.35702G>T, NG_007069.1:g.35702G>C, NG_007069.1:g.35702G>A

Select item 8056938.

rs805693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 10:104055566 (GRCh38)
10:105815324 (GRCh37)
Canonical SPDI:: NC_000010.11:104055565:A:C,NC_000010.11:104055565:A:G,NC_000010.11:104055565:A:T
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.196861/14702 (ALFA)
T=0./0 (KOREAN)
A=0.134615/7 (Siberian)
A=0.162664/298 (Korea1K)
A=0.17206/638 (TWINSUK)
A=0.174364/672 (ALSPAC)
A=0.178571/10 (PRJEB36033)
A=0.179359/179 (GoNL)
A=0.182812/819 (Estonian)
A=0.189815/41 (Qatari)
A=0.198795/99 (SGDP_PRJ)
A=0.213374/56478 (TOPMED)
A=0.218245/30501 (GnomAD)
A=0.225048/469 (HGDP_Stanford)
A=0.225664/357 (HapMap)
A=0.226667/136 (NorthernSweden)
A=0.238304/3994 (TOMMO)
A=0.246721/1236 (1000Genomes)
A=0.25/10 (GENOME_DK)
A=0.328704/71 (Vietnamese)
HGVS:: NC_000010.11:g.104055566A>C, NC_000010.11:g.104055566A>G, NC_000010.11:g.104055566A>T, NC_000010.10:g.105815324A>C, NC_000010.10:g.105815324A>G, NC_000010.10:g.105815324A>T, NG_007069.1:g.35315T>G, NG_007069.1:g.35315T>C, NG_007069.1:g.35315T>A

LitVar

Select item 8056949.

rs805694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:104055696 (GRCh38)
10:105815454 (GRCh37)
Canonical SPDI:: NC_000010.11:104055695:G:A,NC_000010.11:104055695:G:C
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.238233/6499 (ALFA)
G=0.134615/7 (Siberian)
G=0.165393/303 (Korea1K)
G=0.173679/644 (TWINSUK)
G=0.17644/680 (ALSPAC)
G=0.17884/524 (KOREAN)
G=0.179359/179 (GoNL)
G=0.183482/822 (Estonian)
G=0.203704/44 (Qatari)
G=0.21281/103 (SGDP_PRJ)
G=0.226667/136 (NorthernSweden)
G=0.238587/3999 (TOMMO)
G=0.262741/69545 (TOPMED)
G=0.263858/36900 (GnomAD)
G=0.275/11 (GENOME_DK)
G=0.301218/1508 (1000Genomes)
G=0.318956/599 (HapMap)
G=0.327103/70 (Vietnamese)
HGVS:: NC_000010.11:g.104055696G>A, NC_000010.11:g.104055696G>C, NC_000010.10:g.105815454G>A, NC_000010.10:g.105815454G>C, NG_007069.1:g.35185C>T, NG_007069.1:g.35185C>G

Select item 80569510.

rs805695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:104056308 (GRCh38)
10:105816066 (GRCh37)
Canonical SPDI:: NC_000010.11:104056307:C:A,NC_000010.11:104056307:C:G,NC_000010.11:104056307:C:T
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.25082/459 (Korea1K)
C=0.264022/772 (KOREAN)
C=0.266741/1195 (Estonian)
C=0.278049/114 (SGDP_PRJ)
C=0.283055/4744 (TOMMO)
C=0.291667/14 (Siberian)
C=0.29398/1133 (ALSPAC)
C=0.298004/1105 (TWINSUK)
C=0.346667/208 (NorthernSweden)
C=0.361111/78 (Qatari)
C=0.375/15 (GENOME_DK)
C=0.420686/58864 (GnomAD)
C=0.423616/112127 (TOPMED)
C=0.455028/2279 (1000Genomes)
HGVS:: NC_000010.11:g.104056308C>A, NC_000010.11:g.104056308C>G, NC_000010.11:g.104056308C>T, NC_000010.10:g.105816066C>A, NC_000010.10:g.105816066C>G, NC_000010.10:g.105816066C>T, NG_007069.1:g.34573G>T, NG_007069.1:g.34573G>C, NG_007069.1:g.34573G>A

Select item 80569611.

rs805696 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:104056927 (GRCh38)
10:105816685 (GRCh37)
Canonical SPDI:: NC_000010.11:104056926:T:A,NC_000010.11:104056926:T:C
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.03483/971 (ALFA)
T=0./0 (GENOME_DK)
T=0.002335/9 (ALSPAC)
T=0.003006/3 (GoNL)
T=0.003333/2 (NorthernSweden)
T=0.003506/13 (TWINSUK)
T=0.012723/57 (Estonian)
T=0.017857/1 (Siberian)
T=0.037037/8 (Qatari)
T=0.04163/6311 (GnomAD_exomes)
T=0.045464/898 (ExAC)
T=0.054219/649 (GoESP)
T=0.073485/10304 (GnomAD)
T=0.076087/42 (SGDP_PRJ)
T=0.078099/20672 (TOPMED)
T=0.095628/175 (Korea1K)
T=0.098976/290 (KOREAN)
T=0.104869/56 (MGP)
T=0.106027/531 (1000Genomes)
T=0.114192/70 (Vietnamese)
T=0.156805/2628 (TOMMO)
HGVS:: NC_000010.11:g.104056927T>A, NC_000010.11:g.104056927T>C, NC_000010.10:g.105816685T>A, NC_000010.10:g.105816685T>C, NG_007069.1:g.33954A>T, NG_007069.1:g.33954A>G

Select item 80569712.

rs805697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104057134 (GRCh38)
10:105816892 (GRCh37)
Canonical SPDI:: NC_000010.11:104057133:C:T
Gene:: COL17A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.007772/313 (ALFA)
T=0./0 (HapMap)
T=0.001398/7 (1000Genomes)
T=0.003745/2 (MGP)
T=0.004246/1124 (TOPMED)
T=0.004892/1215 (GnomAD_exomes)
T=0.005396/727 (GnomAD)
T=0.005451/649 (ExAC)
T=0.005619/73 (GoESP)
T=0.007014/7 (GoNL)
T=0.033333/20 (NorthernSweden)
HGVS:: NC_000010.11:g.104057134C>T, NC_000010.10:g.105816892C>T, NG_007069.1:g.33747G>A, NM_000494.4:c.1306G>A, NM_000494.3:c.1306G>A, NM_130778.1:c.1306G>A, NP_000485.3:p.Gly436Arg

Select item 80569813.

rs805698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:104057158 (GRCh38)
10:105816916 (GRCh37)
Canonical SPDI:: NC_000010.11:104057157:C:G,NC_000010.11:104057157:C:T
Gene:: COL17A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.031109/5168 (ALFA)
C=0./0 (GENOME_DK)
C=0./0 (PRJEB36033)
C=0.003333/2 (NorthernSweden)
C=0.004008/4 (GoNL)
C=0.004152/16 (ALSPAC)
C=0.005663/21 (TWINSUK)
C=0.012723/57 (Estonian)
C=0.017857/1 (Siberian)
C=0.042763/13 (FINRISK)
C=0.048689/26 (MGP)
C=0.06042/15021 (GnomAD_exomes)
C=0.064341/7785 (ExAC)
C=0.078704/17 (Qatari)
C=0.079545/63 (PRJEB37584)
C=0.089695/47 (SGDP_PRJ)
C=0.101024/296 (KOREAN)
C=0.116013/71 (Vietnamese)
C=0.128489/267 (HGDP_Stanford)
C=0.150946/21146 (GnomAD)
C=0.151131/1965 (GoESP)
C=0.157122/2632 (TOMMO)
C=0.160524/42489 (TOPMED)
C=0.192224/963 (1000Genomes)
C=0.236547/422 (HapMap)
C=0.255694/20119 (PAGE_STUDY)
HGVS:: NC_000010.11:g.104057158C>G, NC_000010.11:g.104057158C>T, NC_000010.10:g.105816916C>G, NC_000010.10:g.105816916C>T, NG_007069.1:g.33723G>C, NG_007069.1:g.33723G>A, NM_000494.4:c.1282G>C, NM_000494.4:c.1282G>A, NM_000494.3:c.1282G>C, NM_000494.3:c.1282G>A, NM_130778.1:c.1282A>G, NM_130778.1:c.1282A>C, NP_000485.3:p.Gly428Arg, NP_000485.3:p.Gly428Ser

PubMed

Select item 80569914.

rs805699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:104057285 (GRCh38)
10:105817043 (GRCh37)
Canonical SPDI:: NC_000010.11:104057284:C:A,NC_000010.11:104057284:C:T
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.050238/949 (ALFA)
C=0./0 (GENOME_DK)
C=0.002595/10 (ALSPAC)
C=0.003006/3 (GoNL)
C=0.003333/2 (NorthernSweden)
C=0.004045/15 (TWINSUK)
C=0.013393/60 (Estonian)
C=0.017857/1 (Siberian)
C=0.029963/16 (MGP)
C=0.050926/11 (Qatari)
C=0.083177/11592 (GnomAD)
C=0.084249/46 (SGDP_PRJ)
C=0.088356/23387 (TOPMED)
C=0.097162/178 (Korea1K)
C=0.101434/297 (KOREAN)
C=0.116334/583 (1000Genomes)
C=0.139394/46 (HapMap)
C=0.157418/2638 (TOMMO)
HGVS:: NC_000010.11:g.104057285C>A, NC_000010.11:g.104057285C>T, NC_000010.10:g.105817043C>A, NC_000010.10:g.105817043C>T, NG_007069.1:g.33596G>T, NG_007069.1:g.33596G>A

Select item 80570015.

rs805700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:104059440 (GRCh38)
10:105819198 (GRCh37)
Canonical SPDI:: NC_000010.11:104059439:A:G,NC_000010.11:104059439:A:T
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.045209/854 (ALFA)
A=0./0 (GENOME_DK)
A=0.002335/9 (ALSPAC)
A=0.003006/3 (GoNL)
A=0.003333/2 (NorthernSweden)
A=0.004045/15 (TWINSUK)
A=0.012723/57 (Estonian)
A=0.017857/1 (Siberian)
A=0.046296/10 (Qatari)
A=0.07503/10520 (GnomAD)
A=0.079848/21135 (TOPMED)
A=0.082117/45 (SGDP_PRJ)
A=0.09607/176 (Korea1K)
A=0.1/293 (KOREAN)
A=0.1/32 (HapMap)
A=0.107589/539 (1000Genomes)
A=0.130841/28 (Vietnamese)
A=0.158716/2660 (TOMMO)
G=0.249064/133 (MGP)
HGVS:: NC_000010.11:g.104059440A>G, NC_000010.11:g.104059440A>T, NC_000010.10:g.105819198A>G, NC_000010.10:g.105819198A>T, NG_007069.1:g.31441T>C, NG_007069.1:g.31441T>A

Select item 80570116.

rs805701 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:104060198 (GRCh38)
10:105819956 (GRCh37)
Canonical SPDI:: NC_000010.11:104060197:G:A
Gene:: COL17A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.335845/91609 (ALFA)
G=0.24/12 (Siberian)
G=0.243655/192 (PRJEB37584)
G=0.258188/473 (Korea1K)
G=0.268601/787 (KOREAN)
G=0.282609/117 (SGDP_PRJ)
G=0.283259/1269 (Estonian)
G=0.286857/4808 (TOMMO)
G=0.299599/299 (GoNL)
G=0.3125/95 (FINRISK)
G=0.317333/1223 (ALSPAC)
G=0.322276/1195 (TWINSUK)
G=0.342548/86148 (GnomAD_exomes)
G=0.352677/42810 (ExAC)
G=0.363296/194 (MGP)
G=0.375/81 (Qatari)
G=0.395765/243 (Vietnamese)
G=0.396667/238 (NorthernSweden)
G=0.4/16 (GENOME_DK)
G=0.404762/34 (PRJEB36033)
G=0.433188/60648 (GnomAD)
G=0.435978/115399 (TOPMED)
G=0.444795/5785 (GoESP)
G=0.455653/2282 (1000Genomes)
G=0.459831/870 (HapMap)
G=0.495769/39018 (PAGE_STUDY)
HGVS:: NC_000010.11:g.104060198G>A, NC_000010.10:g.105819956G>A, NG_007069.1:g.30683C>T, NM_000494.4:c.1062C>T, NM_000494.3:c.1062C>T, NM_130778.1:c.1062T>C

Select item 80570417.

rs805704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:104061378 (GRCh38)
10:105821136 (GRCh37)
Canonical SPDI:: NC_000010.11:104061377:A:C,NC_000010.11:104061377:A:T
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0275/376 (ALFA)
A=0./0 (GENOME_DK)
A=0.00301/3 (GoNL)
A=0.00333/2 (NorthernSweden)
A=0.01272/57 (Estonian)
A=0.01786/1 (Siberian)
A=0.04483/13 (FINRISK)
A=0.0463/10 (Qatari)
A=0.08029/44 (SGDP_PRJ)
A=0.08173/17 (HapMap)
A=0.08358/1087 (GoESP)
A=0.09662/177 (Korea1K)
A=0.09966/292 (KOREAN)
A=0.1079/540 (1000Genomes)
HGVS:: NC_000010.11:g.104061378A>C, NC_000010.11:g.104061378A>T, NC_000010.10:g.105821136A>C, NC_000010.10:g.105821136A>T, NG_007069.1:g.29503T>G, NG_007069.1:g.29503T>A

Select item 80570518.

rs805705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:104061536 (GRCh38)
10:105821294 (GRCh37)
Canonical SPDI:: NC_000010.11:104061535:A:C,NC_000010.11:104061535:A:G
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.030781/4241 (ALFA)
A=0./0 (GENOME_DK)
A=0./0 (PRJEB36033)
A=0.003006/3 (GoNL)
A=0.003333/2 (NorthernSweden)
A=0.004152/16 (ALSPAC)
A=0.005124/19 (TWINSUK)
A=0.012723/57 (Estonian)
A=0.017857/1 (Siberian)
A=0.069444/15 (Qatari)
A=0.088679/47 (SGDP_PRJ)
A=0.096616/177 (Korea1K)
A=0.099659/292 (KOREAN)
A=0.118703/542 (GoESP)
A=0.121495/26 (Vietnamese)
A=0.128478/17999 (GnomAD)
A=0.137172/36308 (TOPMED)
A=0.157303/84 (MGP)
A=0.158787/2661 (TOMMO)
A=0.169425/848 (1000Genomes)
A=0.215169/383 (HapMap)
HGVS:: NC_000010.11:g.104061536A>C, NC_000010.11:g.104061536A>G, NC_000010.10:g.105821294A>C, NC_000010.10:g.105821294A>G, NG_007069.1:g.29345T>G, NG_007069.1:g.29345T>C

Select item 80570619.

rs805706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:104062078 (GRCh38)
10:105821836 (GRCh37)
Canonical SPDI:: NC_000010.11:104062077:C:A,NC_000010.11:104062077:C:T
Gene:: COL17A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.07938/1901 (ALFA)
C=0./0 (GENOME_DK)
C=0./0 (PRJEB36033)
C=0.003006/3 (GoNL)
C=0.003333/2 (NorthernSweden)
C=0.004152/16 (ALSPAC)
C=0.005124/19 (TWINSUK)
C=0.012723/57 (Estonian)
C=0.017857/1 (Siberian)
T=0.018727/10 (MGP)
C=0.069444/15 (Qatari)
C=0.088679/47 (SGDP_PRJ)
C=0.096616/177 (Korea1K)
C=0.100341/294 (KOREAN)
C=0.128541/18016 (GnomAD)
C=0.135514/29 (Vietnamese)
C=0.137198/36315 (TOPMED)
C=0.158716/2660 (TOMMO)
C=0.169425/848 (1000Genomes)
C=0.229244/370 (HapMap)
HGVS:: NC_000010.11:g.104062078C>A, NC_000010.11:g.104062078C>T, NC_000010.10:g.105821836C>A, NC_000010.10:g.105821836C>T, NG_007069.1:g.28803G>T, NG_007069.1:g.28803G>A

Select item 80570820.

rs805708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:104064575 (GRCh38)
10:105824333 (GRCh37)
Canonical SPDI:: NC_000010.11:104064574:G:A
Gene:: COL17A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.309073/110998 (ALFA)
G=0.24/12 (Siberian)
G=0.249367/197 (PRJEB37584)
G=0.258188/473 (Korea1K)
G=0.264732/1186 (Estonian)
G=0.267535/267 (GoNL)
G=0.268942/788 (KOREAN)
G=0.271226/115 (SGDP_PRJ)
G=0.284946/4776 (TOMMO)
G=0.285677/1101 (ALSPAC)
G=0.288026/1068 (TWINSUK)
G=0.289655/84 (FINRISK)
G=0.323546/80636 (GnomAD_exomes)
G=0.326055/38571 (ExAC)
G=0.326531/32 (PRJEB36033)
G=0.33/198 (NorthernSweden)
G=0.333333/178 (MGP)
G=0.342756/388 (Daghestan)
G=0.365741/79 (Qatari)
G=0.375/15 (GENOME_DK)
G=0.399232/832 (HGDP_Stanford)
G=0.400327/245 (Vietnamese)
G=0.405463/56790 (GnomAD)
G=0.407186/107778 (TOPMED)
G=0.414885/5396 (GoESP)
G=0.44238/2215 (1000Genomes)
G=0.448732/849 (HapMap)
G=0.473977/37302 (PAGE_STUDY)
HGVS:: NC_000010.11:g.104064575G>A, NC_000010.10:g.105824333G>A, NG_007069.1:g.26306C>T, NM_000494.4:c.629C>T, NM_000494.3:c.629C>T, NM_130778.1:c.629C>T, NP_000485.3:p.Thr210Met

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