SNP Links for Gene (Select 150378) - SNP

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Select item 14903518471.

rs1490351847 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:43196983 (GRCh38)
22:43592990 (GRCh37)
Canonical SPDI:: NC_000022.11:43196983::C
Gene:: SCUBE1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.43196983_43196984insC, NC_000022.10:g.43592989_43592990insC, NG_029056.3:g.151405_151406insG

Select item 14900922222.

rs1490092222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43199580 (GRCh38)
22:43595586 (GRCh37)
Canonical SPDI:: NC_000022.11:43199579:C:T
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.43199580C>T, NC_000022.10:g.43595586C>T, NG_029056.3:g.148809G>A, NM_173050.5:c.*4417G>A, NM_173050.4:c.*4417G>A, NR_147916.1:n.1575G>A

Select item 14900832953.

rs1490083295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:43198818 (GRCh38)
22:43594824 (GRCh37)
Canonical SPDI:: NC_000022.11:43198817:G:A,NC_000022.11:43198817:G:C
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.43198818G>A, NC_000022.11:g.43198818G>C, NC_000022.10:g.43594824G>A, NC_000022.10:g.43594824G>C, NG_029056.3:g.149571C>T, NG_029056.3:g.149571C>G, NM_173050.5:c.*5179C>T, NM_173050.5:c.*5179C>G, NM_173050.4:c.*5179C>T, NM_173050.4:c.*5179C>G, NR_147916.1:n.2337C>T, NR_147916.1:n.2337C>G, NM_152514.1:c.332C>T, NM_152514.1:c.332C>G

Select item 14899312494.

rs1489931249 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGTCTGCTTTCCGGGGCAGTTTG>- [Show Flanks]
Chromosome:: 22:43198886 (GRCh38)
22:43594892 (GRCh37)
Canonical SPDI:: NC_000022.11:43198874:GGGGCAGTTTGCTGTCTGCTTTCCGGGGCAGTTTG:GGGGCAGTTTG
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GGGGCAGTTTG=0.00007/1 (ALFA)
HGVS:: NC_000022.11:g.43198886_43198909del, NC_000022.10:g.43594892_43594915del, NG_029056.3:g.149491_149514del, NM_173050.5:c.*5099_*5122del, NM_173050.4:c.*5099_*5122del, NR_147916.1:n.2257_2280del, NM_152514.1:c.252_275del

Select item 14895907775.

rs1489590777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43202551 (GRCh38)
22:43598557 (GRCh37)
Canonical SPDI:: NC_000022.11:43202550:C:T
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000022.11:g.43202551C>T, NC_000022.10:g.43598557C>T, NG_029056.3:g.145838G>A, NM_173050.5:c.*1446G>A, NM_173050.4:c.*1446G>A

Select item 14894590316.

rs1489459031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:43202646 (GRCh38)
22:43598652 (GRCh37)
Canonical SPDI:: NC_000022.11:43202645:G:A
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000022.11:g.43202646G>A, NC_000022.10:g.43598652G>A, NG_029056.3:g.145743C>T, NM_173050.5:c.*1351C>T, NM_173050.4:c.*1351C>T

Select item 14888895087.

rs1488889508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:43201670 (GRCh38)
22:43597676 (GRCh37)
Canonical SPDI:: NC_000022.11:43201669:T:A
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.43201670T>A, NC_000022.10:g.43597676T>A, NG_029056.3:g.146719A>T, NM_173050.5:c.*2327A>T, NM_173050.4:c.*2327A>T

Select item 14886647158.

rs1488664715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:43203038 (GRCh38)
22:43599044 (GRCh37)
Canonical SPDI:: NC_000022.11:43203037:C:T
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.43203038C>T, NC_000022.10:g.43599044C>T, NG_029056.3:g.145351G>A, NM_173050.5:c.*959G>A, NM_173050.4:c.*959G>A

Select item 14884840649.

rs1488484064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:43201343 (GRCh38)
22:43597349 (GRCh37)
Canonical SPDI:: NC_000022.11:43201342:A:G
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.43201343A>G, NC_000022.10:g.43597349A>G, NG_029056.3:g.147046T>C, NM_173050.5:c.*2654T>C, NM_173050.4:c.*2654T>C

Select item 148789979610.

rs1487899796 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GTGA
Chromosome:: no mapping
Canonical SPDI:

Select item 148787212711.

rs1487872127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:43203089 (GRCh38)
22:43599095 (GRCh37)
Canonical SPDI:: NC_000022.11:43203088:G:A
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.43203089G>A, NC_000022.10:g.43599095G>A, NG_029056.3:g.145300C>T, NM_173050.5:c.*908C>T, NM_173050.4:c.*908C>T

Select item 148706772212.

rs1487067722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:43201753 (GRCh38)
22:43597759 (GRCh37)
Canonical SPDI:: NC_000022.11:43201752:C:A
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000022.11:g.43201753C>A, NC_000022.10:g.43597759C>A, NG_029056.3:g.146636G>T, NM_173050.5:c.*2244G>T, NM_173050.4:c.*2244G>T

Select item 148700948713.

rs1487009487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:43201181 (GRCh38)
22:43597187 (GRCh37)
Canonical SPDI:: NC_000022.11:43201180:G:C
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.43201181G>C, NC_000022.10:g.43597187G>C, NG_029056.3:g.147208C>G, NM_173050.5:c.*2816C>G, NM_173050.4:c.*2816C>G

Select item 148659523714.

rs1486595237 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148654184415.

rs1486541844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 22:43201455 (GRCh38)
22:43597461 (GRCh37)
Canonical SPDI:: NC_000022.11:43201454:G:C,NC_000022.11:43201454:G:T
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.43201455G>C, NC_000022.11:g.43201455G>T, NC_000022.10:g.43597461G>C, NC_000022.10:g.43597461G>T, NG_029056.3:g.146934C>G, NG_029056.3:g.146934C>A, NM_173050.5:c.*2542C>G, NM_173050.5:c.*2542C>A, NM_173050.4:c.*2542C>G, NM_173050.4:c.*2542C>A

Select item 148651213016.

rs1486512130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:43200920 (GRCh38)
22:43596926 (GRCh37)
Canonical SPDI:: NC_000022.11:43200919:G:A
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.43200920G>A, NC_000022.10:g.43596926G>A, NG_029056.3:g.147469C>T, NM_173050.5:c.*3077C>T, NM_173050.4:c.*3077C>T, NR_147916.1:n.235C>T

Select item 148429058117.

rs1484290581 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TC [Show Flanks]
Chromosome:: 22:43198551 (GRCh38)
22:43594557 (GRCh37)
Canonical SPDI:: NC_000022.11:43198545:CTCTCTCTC:CTCTC,NC_000022.11:43198545:CTCTCTCTC:CTCTCTC
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.43198547TC[2], NC_000022.11:g.43198547TC[3], NC_000022.10:g.43594553TC[2], NC_000022.10:g.43594553TC[3], NG_029056.3:g.149836AG[2], NG_029056.3:g.149836AG[3], NM_173050.5:c.*5444AG[2], NM_173050.5:c.*5444AG[3], NM_173050.4:c.*5444AG[2], NM_173050.4:c.*5444AG[3], NR_147916.1:n.2602AG[2], NR_147916.1:n.2602AG[3], NM_152514.1:c.*105AG[2], NM_152514.1:c.*105AG[3]

Select item 148391671718.

rs1483916717 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATA>- [Show Flanks]
Chromosome:: 22:43199250 (GRCh38)
22:43595256 (GRCh37)
Canonical SPDI:: NC_000022.11:43199245:AATAATA:AATA
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.43199247ATA[1], NC_000022.10:g.43595253ATA[1], NG_029056.3:g.149138ATT[1], NM_173050.5:c.*4746ATT[1], NM_173050.4:c.*4746ATT[1], NR_147916.1:n.1904ATT[1], NM_152514.1:c.-135ATT[1]

Select item 148294328719.

rs1482943287 [Homo sapiens]

Variant type:: DEL
Alleles:: CAAAA>- [Show Flanks]
Chromosome:: 22:43201303 (GRCh38)
22:43597309 (GRCh37)
Canonical SPDI:: NC_000022.11:43201302:CAAAA:
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.43201303_43201307del, NC_000022.10:g.43597309_43597313del, NG_029056.3:g.147082_147086del, NM_173050.5:c.*2690_*2694del, NM_173050.4:c.*2690_*2694del

Select item 148291217020.

rs1482912170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:43200496 (GRCh38)
22:43596502 (GRCh37)
Canonical SPDI:: NC_000022.11:43200495:T:G
Gene:: SCUBE1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000022.11:g.43200496T>G, NC_000022.10:g.43596502T>G, NG_029056.3:g.147893A>C, NM_173050.5:c.*3501A>C, NM_173050.4:c.*3501A>C, NR_147916.1:n.659A>C

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