SNP Links for Nucleotide (Select 1034646304) - SNP

Links from Nucleotide

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Select item 14915712401.

rs1491571240 has merged into rs1276910498 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 5:33525436 (GRCh38)
5:33525541 (GRCh37)
Canonical SPDI:: NC_000005.10:33525435:AAAAAAA:AAAAAA,NC_000005.10:33525435:AAAAAAA:AAAAAAAA
Gene:: ADAMTS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.33525442del, NC_000005.10:g.33525442dup, NC_000005.9:g.33525547del, NC_000005.9:g.33525547dup, NM_030955.4:c.*1752del, NM_030955.4:c.*1752dup, NM_030955.3:c.*1752del, NM_030955.3:c.*1752dup, XM_017009905.2:c.*1752del, XM_017009905.2:c.*1752dup, XM_017009905.1:c.*1752del, XM_017009905.1:c.*1752dup, NM_001324512.2:c.*1752del, NM_001324512.2:c.*1752dup, NM_001324512.1:c.*1752del, NM_001324512.1:c.*1752dup, XM_017009909.2:c.*1752del, XM_017009909.2:c.*1752dup, XM_017009909.1:c.*1752del, XM_017009909.1:c.*1752dup, XM_017009906.1:c.*1752del, XM_017009906.1:c.*1752dup, XM_017009907.1:c.*1752del, XM_017009907.1:c.*1752dup, XM_017009908.1:c.*1752del, XM_017009908.1:c.*1752dup

Select item 14911723312.

rs1491172331 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:33525435 (GRCh38)
5:33525540 (GRCh37)
Canonical SPDI:: NC_000005.10:33525434:GA:
Gene:: ADAMTS12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.33525435_33525436del, NC_000005.9:g.33525540_33525541del, NM_030955.4:c.*1752_*1753del, NM_030955.3:c.*1752_*1753del, XM_017009905.2:c.*1752_*1753del, XM_017009905.1:c.*1752_*1753del, NM_001324512.2:c.*1752_*1753del, NM_001324512.1:c.*1752_*1753del, XM_017009909.2:c.*1752_*1753del, XM_017009909.1:c.*1752_*1753del, XM_017009906.1:c.*1752_*1753del, XM_017009907.1:c.*1752_*1753del, XM_017009908.1:c.*1752_*1753del

Select item 14907568603.

rs1490756860 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:33527319 (GRCh38)
5:33527424 (GRCh37)
Canonical SPDI:: NC_000005.10:33527318:G:
Gene:: ADAMTS12 (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.33527319del, NC_000005.9:g.33527424del, NM_030955.4:c.4654del, NM_030955.3:c.4654del, NM_030955.2:c.4654del, XM_017009905.2:c.4765del, XM_017009905.1:c.4765del, NM_001324512.2:c.4399del, NM_001324512.1:c.4399del, XM_017009909.2:c.2839del, XM_017009909.1:c.2839del, XM_017009906.1:c.4273del, XM_017009907.1:c.3208del, XM_017009908.1:c.2851del, NP_112217.2:p.Thr1551_Leu1552insTer, XP_016865394.1:p.Thr1588_Leu1589insTer, NP_001311441.1:p.Thr1466_Leu1467insTer, XP_016865398.1:p.Thr946_Leu947insTer, XP_016865395.1:p.Thr1424_Leu1425insTer, XP_016865396.1:p.Thr1069_Leu1070insTer, XP_016865397.1:p.Thr950_Leu951insTer

Select item 14895850524.

rs1489585052 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:33524448 (GRCh38)
5:33524553 (GRCh37)
Canonical SPDI:: NC_000005.10:33524444:AGAGA:AGA
Gene:: ADAMTS12 (Varview), LOC105374717 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.33524446GA[1], NC_000005.9:g.33524551GA[1], NM_030955.4:c.*2740CT[1], NM_030955.3:c.*2740CT[1], XM_017009905.2:c.*2740CT[1], XM_017009905.1:c.*2740CT[1], NM_001324512.2:c.*2740CT[1], NM_001324512.1:c.*2740CT[1], XM_017009909.2:c.*2740CT[1], XM_017009909.1:c.*2740CT[1], XM_017009906.1:c.*2740CT[1], XM_017009907.1:c.*2740CT[1], XM_017009908.1:c.*2740CT[1]

Select item 14895200325.

rs1489520032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:33524001 (GRCh38)
5:33524106 (GRCh37)
Canonical SPDI:: NC_000005.10:33524000:T:C
Gene:: ADAMTS12 (Varview), LOC105374717 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_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_000005.10:g.33524001T>C, NC_000005.9:g.33524106T>C, NM_030955.4:c.*3187A>G, NM_030955.3:c.*3187A>G, XM_017009905.2:c.*3187A>G, XM_017009905.1:c.*3187A>G, NM_001324512.2:c.*3187A>G, NM_001324512.1:c.*3187A>G, XM_017009909.2:c.*3187A>G, XM_017009909.1:c.*3187A>G, XM_017009906.1:c.*3187A>G, XM_017009907.1:c.*3187A>G, XM_017009908.1:c.*3187A>G

Select item 14894495016.

rs1489449501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:33576140 (GRCh38)
5:33576245 (GRCh37)
Canonical SPDI:: NC_000005.10:33576139:C:T
Gene:: ADAMTS12 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.33576140C>T, NC_000005.9:g.33576245C>T, NG_083663.1:g.198C>T, NM_030955.4:c.3886G>A, NM_030955.3:c.3886G>A, NM_030955.2:c.3886G>A, XM_017009905.2:c.3997G>A, XM_017009905.1:c.3997G>A, NM_001324512.2:c.3631G>A, NM_001324512.1:c.3631G>A, XM_017009909.2:c.2071G>A, XM_017009909.1:c.2071G>A, XM_017009906.1:c.3505G>A, XM_017009907.1:c.2440G>A, XM_017009908.1:c.2083G>A, NP_112217.2:p.Glu1296Lys, XP_016865394.1:p.Glu1333Lys, NP_001311441.1:p.Glu1211Lys, XP_016865398.1:p.Glu691Lys, XP_016865395.1:p.Glu1169Lys, XP_016865396.1:p.Glu814Lys, XP_016865397.1:p.Glu695Lys

Select item 14883504427.

rs1488350442 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTATG [Show Flanks]
Chromosome:: 5:33525569 (GRCh38)
5:33525675 (GRCh37)
Canonical SPDI:: NC_000005.10:33525569:GTATG:GTATGGTATG
Gene:: ADAMTS12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTATGGTATG=0./0 (ALFA)
GTATG=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.33525570_33525574dup, NC_000005.9:g.33525675_33525679dup, NM_030955.4:c.*1614_*1618dup, NM_030955.3:c.*1614_*1618dup, XM_017009905.2:c.*1614_*1618dup, XM_017009905.1:c.*1614_*1618dup, NM_001324512.2:c.*1614_*1618dup, NM_001324512.1:c.*1614_*1618dup, XM_017009909.2:c.*1614_*1618dup, XM_017009909.1:c.*1614_*1618dup, XM_017009906.1:c.*1614_*1618dup, XM_017009907.1:c.*1614_*1618dup, XM_017009908.1:c.*1614_*1618dup

Select item 14880215988.

rs1488021598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:33526177 (GRCh38)
5:33526282 (GRCh37)
Canonical SPDI:: NC_000005.10:33526176:C:T
Gene:: ADAMTS12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.33526177C>T, NC_000005.9:g.33526282C>T, NM_030955.4:c.*1011G>A, NM_030955.3:c.*1011G>A, XM_017009905.2:c.*1011G>A, XM_017009905.1:c.*1011G>A, NM_001324512.2:c.*1011G>A, NM_001324512.1:c.*1011G>A, XM_017009909.2:c.*1011G>A, XM_017009909.1:c.*1011G>A, XM_017009906.1:c.*1011G>A, XM_017009907.1:c.*1011G>A, XM_017009908.1:c.*1011G>A

Select item 14876181749.

rs1487618174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:33637725 (GRCh38)
5:33637830 (GRCh37)
Canonical SPDI:: NC_000005.10:33637724:A:G
Gene:: ADAMTS12 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.33637725A>G, NC_000005.9:g.33637830A>G, NM_030955.4:c.1740T>C, NM_030955.3:c.1740T>C, NM_030955.2:c.1740T>C, XM_017009905.2:c.1740T>C, XM_017009905.1:c.1740T>C, NM_001324512.2:c.1740T>C, NM_001324512.1:c.1740T>C, XM_017009906.1:c.1248T>C, XM_017009907.1:c.183T>C

Select item 148758488910.

rs1487584889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:33578776 (GRCh38)
5:33578881 (GRCh37)
Canonical SPDI:: NC_000005.10:33578775:A:G
Gene:: ADAMTS12 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.33578776A>G, NC_000005.9:g.33578881A>G, XM_017009905.2:c.2956T>C, XM_017009905.1:c.2956T>C, XM_017009909.2:c.1030T>C, XM_017009909.1:c.1030T>C, XM_017009906.1:c.2464T>C, XM_017009907.1:c.1399T>C, XM_017009908.1:c.1042T>C, XP_016865394.1:p.Ser986Pro, XP_016865398.1:p.Ser344Pro, XP_016865395.1:p.Ser822Pro, XP_016865396.1:p.Ser467Pro, XP_016865397.1:p.Ser348Pro

Select item 148756653711.

rs1487566537 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:33525049 (GRCh38)
5:33525154 (GRCh37)
Canonical SPDI:: NC_000005.10:33525048:A:G
Gene:: ADAMTS12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000546/1 (Korea1K)
G=0.001026/17 (TOMMO)
HGVS:: NC_000005.10:g.33525049A>G, NC_000005.9:g.33525154A>G, NM_030955.4:c.*2139T>C, NM_030955.3:c.*2139T>C, XM_017009905.2:c.*2139T>C, XM_017009905.1:c.*2139T>C, NM_001324512.2:c.*2139T>C, NM_001324512.1:c.*2139T>C, XM_017009909.2:c.*2139T>C, XM_017009909.1:c.*2139T>C, XM_017009906.1:c.*2139T>C, XM_017009907.1:c.*2139T>C, XM_017009908.1:c.*2139T>C

Select item 148751499012.

rs1487514990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:33526280 (GRCh38)
5:33526385 (GRCh37)
Canonical SPDI:: NC_000005.10:33526279:C:T
Gene:: ADAMTS12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.33526280C>T, NC_000005.9:g.33526385C>T, NM_030955.4:c.*908G>A, NM_030955.3:c.*908G>A, XM_017009905.2:c.*908G>A, XM_017009905.1:c.*908G>A, NM_001324512.2:c.*908G>A, NM_001324512.1:c.*908G>A, XM_017009909.2:c.*908G>A, XM_017009909.1:c.*908G>A, XM_017009906.1:c.*908G>A, XM_017009907.1:c.*908G>A, XM_017009908.1:c.*908G>A

Select item 148652075913.

rs1486520759 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:33576639 (GRCh38)
5:33576744 (GRCh37)
Canonical SPDI:: NC_000005.10:33576638:C:A,NC_000005.10:33576638:C:T
Gene:: ADAMTS12 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.33576639C>A, NC_000005.10:g.33576639C>T, NC_000005.9:g.33576744C>A, NC_000005.9:g.33576744C>T, NG_083663.1:g.697C>A, NG_083663.1:g.697C>T, NM_030955.4:c.3387G>T, NM_030955.4:c.3387G>A, NM_030955.3:c.3387G>T, NM_030955.3:c.3387G>A, NM_030955.2:c.3387G>T, NM_030955.2:c.3387G>A, XM_017009905.2:c.3498G>T, XM_017009905.2:c.3498G>A, XM_017009905.1:c.3498G>T, XM_017009905.1:c.3498G>A, NM_001324512.2:c.3132G>T, NM_001324512.2:c.3132G>A, NM_001324512.1:c.3132G>T, NM_001324512.1:c.3132G>A, XM_017009909.2:c.1572G>T, XM_017009909.2:c.1572G>A, XM_017009909.1:c.1572G>T, XM_017009909.1:c.1572G>A, XM_017009906.1:c.3006G>T, XM_017009906.1:c.3006G>A, XM_017009907.1:c.1941G>T, XM_017009907.1:c.1941G>A, XM_017009908.1:c.1584G>T, XM_017009908.1:c.1584G>A, NP_112217.2:p.Leu1129Phe, XP_016865394.1:p.Leu1166Phe, NP_001311441.1:p.Leu1044Phe, XP_016865398.1:p.Leu524Phe, XP_016865395.1:p.Leu1002Phe, XP_016865396.1:p.Leu647Phe, XP_016865397.1:p.Leu528Phe

Select item 148594238614.

rs1485942386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:33527046 (GRCh38)
5:33527151 (GRCh37)
Canonical SPDI:: NC_000005.10:33527045:C:T
Gene:: ADAMTS12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.33527046C>T, NC_000005.9:g.33527151C>T, NM_030955.4:c.*142G>A, NM_030955.3:c.*142G>A, XM_017009905.2:c.*142G>A, XM_017009905.1:c.*142G>A, NM_001324512.2:c.*142G>A, NM_001324512.1:c.*142G>A, XM_017009909.2:c.*142G>A, XM_017009909.1:c.*142G>A, XM_017009906.1:c.*142G>A, XM_017009907.1:c.*142G>A, XM_017009908.1:c.*142G>A

Select item 148584937415.

rs1485849374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:33588717 (GRCh38)
5:33588822 (GRCh37)
Canonical SPDI:: NC_000005.10:33588716:G:A
Gene:: ADAMTS12 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.33588717G>A, NC_000005.9:g.33588822G>A, NM_030955.4:c.2747C>T, NM_030955.3:c.2747C>T, NM_030955.2:c.2747C>T, XM_017009905.2:c.2747C>T, XM_017009905.1:c.2747C>T, NM_001324512.2:c.2492C>T, NM_001324512.1:c.2492C>T, XM_017009909.2:c.821C>T, XM_017009909.1:c.821C>T, XM_017009906.1:c.2255C>T, XM_017009907.1:c.1190C>T, XM_017009908.1:c.833C>T, NP_112217.2:p.Ser916Phe, XP_016865394.1:p.Ser916Phe, NP_001311441.1:p.Ser831Phe, XP_016865398.1:p.Ser274Phe, XP_016865395.1:p.Ser752Phe, XP_016865396.1:p.Ser397Phe, XP_016865397.1:p.Ser278Phe

Select item 148546544516.

rs1485465445 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 5:33524971 (GRCh38)
5:33525076 (GRCh37)
Canonical SPDI:: NC_000005.10:33524970:TT:T
Gene:: ADAMTS12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.33524972del, NC_000005.9:g.33525077del, NM_030955.4:c.*2217del, NM_030955.3:c.*2217del, XM_017009905.2:c.*2217del, XM_017009905.1:c.*2217del, NM_001324512.2:c.*2217del, NM_001324512.1:c.*2217del, XM_017009909.2:c.*2217del, XM_017009909.1:c.*2217del, XM_017009906.1:c.*2217del, XM_017009907.1:c.*2217del, XM_017009908.1:c.*2217del

Select item 148542744317.

rs1485427443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:33523863 (GRCh38)
5:33523968 (GRCh37)
Canonical SPDI:: NC_000005.10:33523862:C:T
Gene:: ADAMTS12 (Varview), LOC105374717 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.33523863C>T, NC_000005.9:g.33523968C>T, NM_030955.4:c.*3325G>A, NM_030955.3:c.*3325G>A, XM_017009905.2:c.*3325G>A, XM_017009905.1:c.*3325G>A, NM_001324512.2:c.*3325G>A, NM_001324512.1:c.*3325G>A, XM_017009909.2:c.*3325G>A, XM_017009909.1:c.*3325G>A, XM_017009906.1:c.*3325G>A, XM_017009907.1:c.*3325G>A, XM_017009908.1:c.*3325G>A

Select item 148389306918.

rs1483893069 [Homo sapiens]

Variant type:: DEL
Alleles:: GCC>- [Show Flanks]
Chromosome:: 5:33614350 (GRCh38)
5:33614455 (GRCh37)
Canonical SPDI:: NC_000005.10:33614349:GCC:
Gene:: ADAMTS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.33614350_33614352del, NC_000005.9:g.33614455_33614457del, NM_030955.4:c.2413_2415del, NM_030955.3:c.2413_2415del, NM_030955.2:c.2413_2415del, XM_017009905.2:c.2413_2415del, XM_017009905.1:c.2413_2415del, NM_001324512.2:c.2158_2160del, NM_001324512.1:c.2158_2160del, XM_017009909.2:c.487_489del, XM_017009909.1:c.487_489del, XM_017009906.1:c.1921_1923del, XM_017009907.1:c.856_858del, XM_017009908.1:c.499_501del, NP_112217.2:p.Gly805del, XP_016865394.1:p.Gly805del, NP_001311441.1:p.Gly720del, XP_016865398.1:p.Gly163del, XP_016865395.1:p.Gly641del, XP_016865396.1:p.Gly286del, XP_016865397.1:p.Gly167del

Select item 148382795819.

rs1483827958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:33524021 (GRCh38)
5:33524126 (GRCh37)
Canonical SPDI:: NC_000005.10:33524020:T:A,NC_000005.10:33524020:T:C
Gene:: ADAMTS12 (Varview), LOC105374717 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.33524021T>A, NC_000005.10:g.33524021T>C, NC_000005.9:g.33524126T>A, NC_000005.9:g.33524126T>C, NM_030955.4:c.*3167A>T, NM_030955.4:c.*3167A>G, NM_030955.3:c.*3167A>T, NM_030955.3:c.*3167A>G, XM_017009905.2:c.*3167A>T, XM_017009905.2:c.*3167A>G, XM_017009905.1:c.*3167A>T, XM_017009905.1:c.*3167A>G, NM_001324512.2:c.*3167A>T, NM_001324512.2:c.*3167A>G, NM_001324512.1:c.*3167A>T, NM_001324512.1:c.*3167A>G, XM_017009909.2:c.*3167A>T, XM_017009909.2:c.*3167A>G, XM_017009909.1:c.*3167A>T, XM_017009909.1:c.*3167A>G, XM_017009906.1:c.*3167A>T, XM_017009906.1:c.*3167A>G, XM_017009907.1:c.*3167A>T, XM_017009907.1:c.*3167A>G, XM_017009908.1:c.*3167A>T, XM_017009908.1:c.*3167A>G

Select item 148353274220.

rs1483532742 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:33525192 (GRCh38)
5:33525297 (GRCh37)
Canonical SPDI:: NC_000005.10:33525191:C:G
Gene:: ADAMTS12 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000156/1 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000005.10:g.33525192C>G, NC_000005.9:g.33525297C>G, NM_030955.4:c.*1996G>C, NM_030955.3:c.*1996G>C, XM_017009905.2:c.*1996G>C, XM_017009905.1:c.*1996G>C, NM_001324512.2:c.*1996G>C, NM_001324512.1:c.*1996G>C, XM_017009909.2:c.*1996G>C, XM_017009909.1:c.*1996G>C, XM_017009906.1:c.*1996G>C, XM_017009907.1:c.*1996G>C, XM_017009908.1:c.*1996G>C

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