SNP Links for Gene (Select 1486) - SNP

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Items: 1 to 20 of 5182

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Select item 14915365291.

rs1491536529 has merged into rs11417377 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:84556723 (GRCh38)
1:85022406 (GRCh37)
Canonical SPDI:: NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84556710:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CTBS (Varview), SPATA1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2632/1318 (1000Genomes)
HGVS:: NC_000001.11:g.84556723_84556728del, NC_000001.11:g.84556724_84556728del, NC_000001.11:g.84556725_84556728del, NC_000001.11:g.84556726_84556728del, NC_000001.11:g.84556727_84556728del, NC_000001.11:g.84556728del, NC_000001.11:g.84556728dup, NC_000001.11:g.84556727_84556728dup, NC_000001.11:g.84556726_84556728dup, NC_000001.11:g.84556725_84556728dup, NC_000001.11:g.84556723_84556728dup, NC_000001.11:g.84556722_84556728dup, NC_000001.10:g.85022406_85022411del, NC_000001.10:g.85022407_85022411del, NC_000001.10:g.85022408_85022411del, NC_000001.10:g.85022409_85022411del, NC_000001.10:g.85022410_85022411del, NC_000001.10:g.85022411del, NC_000001.10:g.85022411dup, NC_000001.10:g.85022410_85022411dup, NC_000001.10:g.85022409_85022411dup, NC_000001.10:g.85022408_85022411dup, NC_000001.10:g.85022406_85022411dup, NC_000001.10:g.85022405_85022411dup

Select item 14913209132.

rs1491320913 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:84556711 (GRCh38)
1:85022395 (GRCh37)
Canonical SPDI:: NC_000001.11:84556711::G
Gene:: CTBS (Varview), SPATA1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.84556711_84556712insG, NC_000001.10:g.85022394_85022395insG

Select item 14907885383.

rs1490788538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:84570838 (GRCh38)
1:85036521 (GRCh37)
Canonical SPDI:: NC_000001.11:84570837:G:A,NC_000001.11:84570837:G:C
Gene:: CTBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.84570838G>A, NC_000001.11:g.84570838G>C, NC_000001.10:g.85036521G>A, NC_000001.10:g.85036521G>C

Select item 14907639914.

rs1490763991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:84571996 (GRCh38)
1:85037679 (GRCh37)
Canonical SPDI:: NC_000001.11:84571995:T:C,NC_000001.11:84571995:T:G
Gene:: CTBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.84571996T>C, NC_000001.11:g.84571996T>G, NC_000001.10:g.85037679T>C, NC_000001.10:g.85037679T>G

Select item 14904748535.

rs1490474853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:84562405 (GRCh38)
1:85028088 (GRCh37)
Canonical SPDI:: NC_000001.11:84562404:G:T
Gene:: CTBS (Varview), SPATA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.84562405G>T, NC_000001.10:g.85028088G>T

Select item 14904292496.

rs1490429249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:84574375 (GRCh38)
1:85040058 (GRCh37)
Canonical SPDI:: NC_000001.11:84574374:C:A
Gene:: CTBS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.84574375C>A, NC_000001.10:g.85040058C>A, NM_004388.3:c.41G>T, NM_004388.2:c.41G>T, NP_004379.1:p.Ser14Ile

Select item 14902627327.

rs1490262732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:84570361 (GRCh38)
1:85036044 (GRCh37)
Canonical SPDI:: NC_000001.11:84570360:G:C
Gene:: CTBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.84570361G>C, NC_000001.10:g.85036044G>C

Select item 14902194888.

rs1490219488 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATTTGT [Show Flanks]
Chromosome:: 1:84553528 (GRCh38)
1:85019212 (GRCh37)
Canonical SPDI:: NC_000001.11:84553528::ATTTGT
Gene:: CTBS (Varview), SPATA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATTTGT=0./0 (ALFA)
ATTTGT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.84553528_84553529insATTTGT, NC_000001.10:g.85019211_85019212insATTTGT, NM_004388.3:c.*1470_*1471insACAAAT, NM_004388.2:c.*1470_*1471insACAAAT, XM_024446289.2:c.*404_*405insATTTGT, XM_024446289.1:c.*404_*405insATTTGT

Select item 14897551019.

rs1489755101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:84569633 (GRCh38)
1:85035316 (GRCh37)
Canonical SPDI:: NC_000001.11:84569632:T:G
Gene:: CTBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.84569633T>G, NC_000001.10:g.85035316T>G

Select item 148971106810.

rs1489711068 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAAGAAAGAAAGAAAG>- [Show Flanks]
Chromosome:: 1:84560134 (GRCh38)
1:85025817 (GRCh37)
Canonical SPDI:: NC_000001.11:84560116:GAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAG:GAAAGAAAGAAAGAAAG
Gene:: CTBS (Varview), SPATA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAG=0.000084/1 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.84560117GAAAGAAAGAAAGAAAG[1], NC_000001.10:g.85025800GAAAGAAAGAAAGAAAG[1]

Select item 148948997411.

rs1489489974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:84572377 (GRCh38)
1:85038060 (GRCh37)
Canonical SPDI:: NC_000001.11:84572376:G:A
Gene:: CTBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.84572377G>A, NC_000001.10:g.85038060G>A

Select item 148943940212.

rs1489439402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:84573399 (GRCh38)
1:85039082 (GRCh37)
Canonical SPDI:: NC_000001.11:84573398:C:A
Gene:: CTBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.84573399C>A, NC_000001.10:g.85039082C>A

Select item 148942976813.

rs1489429768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:84556844 (GRCh38)
1:85022527 (GRCh37)
Canonical SPDI:: NC_000001.11:84556843:T:C
Gene:: CTBS (Varview), SPATA1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.84556844T>C, NC_000001.10:g.85022527T>C

Select item 148931976114.

rs1489319761 has merged into rs56101174 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:84557538 (GRCh38)
1:85023221 (GRCh37)
Canonical SPDI:: NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:84557533:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CTBS (Varview), SPATA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.84557538_84557553del, NC_000001.11:g.84557539_84557553del, NC_000001.11:g.84557540_84557553del, NC_000001.11:g.84557541_84557553del, NC_000001.11:g.84557542_84557553del, NC_000001.11:g.84557543_84557553del, NC_000001.11:g.84557544_84557553del, NC_000001.11:g.84557545_84557553del, NC_000001.11:g.84557546_84557553del, NC_000001.11:g.84557547_84557553del, NC_000001.11:g.84557548_84557553del, NC_000001.11:g.84557550_84557553del, NC_000001.11:g.84557551_84557553del, NC_000001.11:g.84557552_84557553del, NC_000001.11:g.84557553del, NC_000001.11:g.84557553dup, NC_000001.11:g.84557552_84557553dup, NC_000001.11:g.84557551_84557553dup, NC_000001.11:g.84557550_84557553dup, NC_000001.11:g.84557549_84557553dup, NC_000001.11:g.84557548_84557553dup, NC_000001.11:g.84557547_84557553dup, NC_000001.11:g.84557543_84557553dup, NC_000001.11:g.84557542_84557553dup, NC_000001.11:g.84557541_84557553dup, NC_000001.11:g.84557540_84557553dup, NC_000001.11:g.84557539_84557553dup, NC_000001.11:g.84557538_84557553dup, NC_000001.11:g.84557537_84557553dup, NC_000001.11:g.84557536_84557553dup, NC_000001.11:g.84557535_84557553dup, NC_000001.11:g.84557534_84557553dup, NC_000001.11:g.84557553_84557554insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.85023221_85023236del, NC_000001.10:g.85023222_85023236del, NC_000001.10:g.85023223_85023236del, NC_000001.10:g.85023224_85023236del, NC_000001.10:g.85023225_85023236del, NC_000001.10:g.85023226_85023236del, NC_000001.10:g.85023227_85023236del, NC_000001.10:g.85023228_85023236del, NC_000001.10:g.85023229_85023236del, NC_000001.10:g.85023230_85023236del, NC_000001.10:g.85023231_85023236del, NC_000001.10:g.85023233_85023236del, NC_000001.10:g.85023234_85023236del, NC_000001.10:g.85023235_85023236del, NC_000001.10:g.85023236del, NC_000001.10:g.85023236dup, NC_000001.10:g.85023235_85023236dup, NC_000001.10:g.85023234_85023236dup, NC_000001.10:g.85023233_85023236dup, NC_000001.10:g.85023232_85023236dup, NC_000001.10:g.85023231_85023236dup, NC_000001.10:g.85023230_85023236dup, NC_000001.10:g.85023226_85023236dup, NC_000001.10:g.85023225_85023236dup, NC_000001.10:g.85023224_85023236dup, NC_000001.10:g.85023223_85023236dup, NC_000001.10:g.85023222_85023236dup, NC_000001.10:g.85023221_85023236dup, NC_000001.10:g.85023220_85023236dup, NC_000001.10:g.85023219_85023236dup, NC_000001.10:g.85023218_85023236dup, NC_000001.10:g.85023217_85023236dup, NC_000001.10:g.85023236_85023237insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148918805015.

rs1489188050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:84568402 (GRCh38)
1:85034085 (GRCh37)
Canonical SPDI:: NC_000001.11:84568401:C:A,NC_000001.11:84568401:C:T
Gene:: CTBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.84568402C>A, NC_000001.11:g.84568402C>T, NC_000001.10:g.85034085C>A, NC_000001.10:g.85034085C>T

Select item 148918350616.

rs1489183506 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:84555199 (GRCh38)
1:85020882 (GRCh37)
Canonical SPDI:: NC_000001.11:84555198:CC:C
Gene:: CTBS (Varview), SPATA1 (Varview)
Functional Consequence:: splice_acceptor_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.0004/2 (ALFA)
-=0.0004/2 (Estonian)
HGVS:: NC_000001.11:g.84555200del, NC_000001.10:g.85020883del

Select item 148911423017.

rs1489114230 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACA>- [Show Flanks]
Chromosome:: 1:84573228 (GRCh38)
1:85038911 (GRCh37)
Canonical SPDI:: NC_000001.11:84573225:CAAACA:CA
Gene:: CTBS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.84573228_84573231del, NC_000001.10:g.85038911_85038914del

Select item 148909409318.

rs1489094093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:84576102 (GRCh38)
1:85041785 (GRCh37)
Canonical SPDI:: NC_000001.11:84576101:G:A
Gene:: CTBS (Varview), LOC105378819 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00109/2 (Korea1K)
A=0.00259/43 (TOMMO)
HGVS:: NC_000001.11:g.84576102G>A, NC_000001.10:g.85041785G>A

Select item 148864945219.

rs1488649452 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:84565653 (GRCh38)
1:85031337 (GRCh37)
Canonical SPDI:: NC_000001.11:84565653:AAAA:AAAAA
Gene:: CTBS (Varview), SPATA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.84565657dup, NC_000001.10:g.85031340dup

Select item 148854785220.

rs1488547852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:84564548 (GRCh38)
1:85030231 (GRCh37)
Canonical SPDI:: NC_000001.11:84564547:G:A
Gene:: CTBS (Varview), SPATA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.84564548G>A, NC_000001.10:g.85030231G>A

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