SNP Links for Gene (Select 285696) - SNP

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Select item 14915738091.

rs1491573809 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:17133369 (GRCh38)
5:17133478 (GRCh37)
Canonical SPDI:: NC_000005.10:17133368:CA:
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.17133369_17133370del, NC_000005.9:g.17133478_17133479del

Select item 14915462162.

rs1491546216 has merged into rs1183904153 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:17161394 (GRCh38)
5:17161503 (GRCh37)
Canonical SPDI:: NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17161383:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.17161394_17161398del, NC_000005.10:g.17161395_17161398del, NC_000005.10:g.17161396_17161398del, NC_000005.10:g.17161397_17161398del, NC_000005.10:g.17161398del, NC_000005.10:g.17161398dup, NC_000005.10:g.17161397_17161398dup, NC_000005.10:g.17161396_17161398dup, NC_000005.10:g.17161395_17161398dup, NC_000005.10:g.17161393_17161398dup, NC_000005.10:g.17161392_17161398dup, NC_000005.10:g.17161389_17161398dup, NC_000005.10:g.17161384_17161398dup, NC_000005.10:g.17161398_17161399insAAAAAAAAAAAAAAAAA, NC_000005.9:g.17161503_17161507del, NC_000005.9:g.17161504_17161507del, NC_000005.9:g.17161505_17161507del, NC_000005.9:g.17161506_17161507del, NC_000005.9:g.17161507del, NC_000005.9:g.17161507dup, NC_000005.9:g.17161506_17161507dup, NC_000005.9:g.17161505_17161507dup, NC_000005.9:g.17161504_17161507dup, NC_000005.9:g.17161502_17161507dup, NC_000005.9:g.17161501_17161507dup, NC_000005.9:g.17161498_17161507dup, NC_000005.9:g.17161493_17161507dup, NC_000005.9:g.17161507_17161508insAAAAAAAAAAAAAAAAA

Select item 14914727933.

rs1491472793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:17184548 (GRCh38)
5:17184658 (GRCh37)
Canonical SPDI:: NC_000005.10:17184548:G:GG
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.17184549dup, NC_000005.9:g.17184658dup

Select item 14914351754.

rs1491435175 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:17137545 (GRCh38)
5:17137654 (GRCh37)
Canonical SPDI:: NC_000005.10:17137543:TCT:T
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.17137545_17137546del, NC_000005.9:g.17137654_17137655del

Select item 14913943965.

rs1491394396 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 5:17217054 (GRCh38)
5:17217164 (GRCh37)
Canonical SPDI:: NC_000005.10:17217054:A:AAA
Gene:: BASP1 (Varview), BASP1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.17217055_17217056insAA, NC_000005.9:g.17217164_17217165insAA, NR_027253.1:n.368_369insTT

Select item 14913857496.

rs1491385749 has merged into rs558304993 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:17153406 (GRCh38)
5:17153515 (GRCh37)
Canonical SPDI:: NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17153393:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0074/37 (1000Genomes)
HGVS:: NC_000005.10:g.17153406_17153417del, NC_000005.10:g.17153407_17153417del, NC_000005.10:g.17153408_17153417del, NC_000005.10:g.17153409_17153417del, NC_000005.10:g.17153410_17153417del, NC_000005.10:g.17153411_17153417del, NC_000005.10:g.17153412_17153417del, NC_000005.10:g.17153413_17153417del, NC_000005.10:g.17153414_17153417del, NC_000005.10:g.17153415_17153417del, NC_000005.10:g.17153416_17153417del, NC_000005.10:g.17153417del, NC_000005.10:g.17153417dup, NC_000005.10:g.17153416_17153417dup, NC_000005.10:g.17153415_17153417dup, NC_000005.10:g.17153414_17153417dup, NC_000005.10:g.17153413_17153417dup, NC_000005.10:g.17153412_17153417dup, NC_000005.10:g.17153411_17153417dup, NC_000005.10:g.17153410_17153417dup, NC_000005.10:g.17153409_17153417dup, NC_000005.10:g.17153408_17153417dup, NC_000005.10:g.17153407_17153417dup, NC_000005.10:g.17153406_17153417dup, NC_000005.10:g.17153405_17153417dup, NC_000005.10:g.17153404_17153417dup, NC_000005.10:g.17153403_17153417dup, NC_000005.10:g.17153402_17153417dup, NC_000005.10:g.17153401_17153417dup, NC_000005.10:g.17153400_17153417dup, NC_000005.10:g.17153399_17153417dup, NC_000005.10:g.17153398_17153417dup, NC_000005.10:g.17153397_17153417dup, NC_000005.10:g.17153396_17153417dup, NC_000005.10:g.17153395_17153417dup, NC_000005.10:g.17153394_17153417dup, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153417_17153418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17153394_17153417A[45]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.17153394_17153417A[45]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.17153515_17153526del, NC_000005.9:g.17153516_17153526del, NC_000005.9:g.17153517_17153526del, NC_000005.9:g.17153518_17153526del, NC_000005.9:g.17153519_17153526del, NC_000005.9:g.17153520_17153526del, NC_000005.9:g.17153521_17153526del, NC_000005.9:g.17153522_17153526del, NC_000005.9:g.17153523_17153526del, NC_000005.9:g.17153524_17153526del, NC_000005.9:g.17153525_17153526del, NC_000005.9:g.17153526del, NC_000005.9:g.17153526dup, NC_000005.9:g.17153525_17153526dup, NC_000005.9:g.17153524_17153526dup, NC_000005.9:g.17153523_17153526dup, NC_000005.9:g.17153522_17153526dup, NC_000005.9:g.17153521_17153526dup, NC_000005.9:g.17153520_17153526dup, NC_000005.9:g.17153519_17153526dup, NC_000005.9:g.17153518_17153526dup, NC_000005.9:g.17153517_17153526dup, NC_000005.9:g.17153516_17153526dup, NC_000005.9:g.17153515_17153526dup, NC_000005.9:g.17153514_17153526dup, NC_000005.9:g.17153513_17153526dup, NC_000005.9:g.17153512_17153526dup, NC_000005.9:g.17153511_17153526dup, NC_000005.9:g.17153510_17153526dup, NC_000005.9:g.17153509_17153526dup, NC_000005.9:g.17153508_17153526dup, NC_000005.9:g.17153507_17153526dup, NC_000005.9:g.17153506_17153526dup, NC_000005.9:g.17153505_17153526dup, NC_000005.9:g.17153504_17153526dup, NC_000005.9:g.17153503_17153526dup, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153526_17153527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17153503_17153526A[45]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.17153503_17153526A[45]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913707207.

rs1491370720 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:17137544 (GRCh38)
5:17137654 (GRCh37)
Canonical SPDI:: NC_000005.10:17137544:C:CC
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.17137545dup, NC_000005.9:g.17137654dup

Select item 14913229968.

rs1491322996 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:17208547 (GRCh38)
5:17208656 (GRCh37)
Canonical SPDI:: NC_000005.10:17208546:CA:
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.17208547_17208548del, NC_000005.9:g.17208656_17208657del

Select item 14912409379.

rs1491240937 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:17129629 (GRCh38)
5:17129739 (GRCh37)
Canonical SPDI:: NC_000005.10:17129629::C
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.17129629_17129630insC, NC_000005.9:g.17129738_17129739insC

Select item 149121118210.

rs1491211182 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAACAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:17161384 (GRCh38)
5:17161494 (GRCh37)
Canonical SPDI:: NC_000005.10:17161384:AAAAAAAAAAAAAACAAAAAAAAAAA:AAAAAAAAAAAAAACAAAAAAAAAAAAAACAAAAAAAAAAA
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAACAAAAAAAAAAAAAACAAAAAAAAAAA=0.00455/54 (ALFA)
AAAAAAAAAAAAAAC=0.02289/1701 (GnomAD)
HGVS:: NC_000005.10:g.17161396_17161410dup, NC_000005.9:g.17161505_17161519dup

Select item 149120965611.

rs1491209656 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:17191873 (GRCh38)
5:17191983 (GRCh37)
Canonical SPDI:: NC_000005.10:17191873::T
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD)
HGVS:: NC_000005.10:g.17191873_17191874insT, NC_000005.9:g.17191982_17191983insT

Select item 149119904712.

rs1491199047 has merged into rs58358556 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 5:17133380 (GRCh38)
5:17133489 (GRCh37)
Canonical SPDI:: NC_000005.10:17133369:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:17133369:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:17133369:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:17133369:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:17133369:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:17133369:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:17133369:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.14/701 (1000Genomes)
HGVS:: NC_000005.10:g.17133380_17133383del, NC_000005.10:g.17133381_17133383del, NC_000005.10:g.17133382_17133383del, NC_000005.10:g.17133383del, NC_000005.10:g.17133383dup, NC_000005.10:g.17133382_17133383dup, NC_000005.10:g.17133381_17133383dup, NC_000005.9:g.17133489_17133492del, NC_000005.9:g.17133490_17133492del, NC_000005.9:g.17133491_17133492del, NC_000005.9:g.17133492del, NC_000005.9:g.17133492dup, NC_000005.9:g.17133491_17133492dup, NC_000005.9:g.17133490_17133492dup

Select item 149118301213.

rs1491183012 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:17143205 (GRCh38)
5:17143314 (GRCh37)
Canonical SPDI:: NC_000005.10:17143201:ACACA:ACA
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.17143203CA[1], NC_000005.9:g.17143312CA[1]

Select item 149116492514.

rs1491164925 has merged into rs536092511 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTGTGTGTGGTGTGTGTGTGTGT,TTGTGTGTGT,TTGTGTGTGTGTGT,TTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGTGT,TTTTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:17199018 (GRCh38)
5:17199128 (GRCh37)
Canonical SPDI:: NC_000005.10:17199018:T:TTGTGTGTGTGGTGTGTGTGTGTGT,NC_000005.10:17199018:T:TTTGTGTGTGT,NC_000005.10:17199018:T:TTTGTGTGTGTGTGT,NC_000005.10:17199018:T:TTTGTGTGTGTGTGTGT,NC_000005.10:17199018:T:TTTGTGTGTGTGTGTGTGT,NC_000005.10:17199018:T:TTTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:17199018:T:TTTTTGTGTGTGTGTGTGT
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.17199019_17199020insTGTGTGTGTGGTGTGTGTGTGTGT, NC_000005.10:g.17199019_17199020insTTGTGTGTGT, NC_000005.10:g.17199019_17199020insTTGTGTGTGTGTGT, NC_000005.10:g.17199019_17199020insTTGTGTGTGTGTGTGT, NC_000005.10:g.17199019_17199020insTTGTGTGTGTGTGTGTGT, NC_000005.10:g.17199019_17199020insTTGTGTGTGTGTGTGTGTGTGT, NC_000005.10:g.17199019T[5]GT[7], NC_000005.9:g.17199128_17199129insTGTGTGTGTGGTGTGTGTGTGTGT, NC_000005.9:g.17199128_17199129insTTGTGTGTGT, NC_000005.9:g.17199128_17199129insTTGTGTGTGTGTGT, NC_000005.9:g.17199128_17199129insTTGTGTGTGTGTGTGT, NC_000005.9:g.17199128_17199129insTTGTGTGTGTGTGTGTGT, NC_000005.9:g.17199128_17199129insTTGTGTGTGTGTGTGTGTGTGT, NC_000005.9:g.17199128T[5]GT[7]

Select item 149114709715.

rs1491147097 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:17184549 (GRCh38)
5:17184658 (GRCh37)
Canonical SPDI:: NC_000005.10:17184547:AGA:A
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.17184549_17184550del, NC_000005.9:g.17184658_17184659del

Select item 149114574916.

rs1491145749 has merged into rs56328793 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:17208555 (GRCh38)
5:17208664 (GRCh37)
Canonical SPDI:: NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17208547:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.17208555_17208573del, NC_000005.10:g.17208559_17208573del, NC_000005.10:g.17208560_17208573del, NC_000005.10:g.17208561_17208573del, NC_000005.10:g.17208564_17208573del, NC_000005.10:g.17208565_17208573del, NC_000005.10:g.17208566_17208573del, NC_000005.10:g.17208567_17208573del, NC_000005.10:g.17208568_17208573del, NC_000005.10:g.17208569_17208573del, NC_000005.10:g.17208570_17208573del, NC_000005.10:g.17208571_17208573del, NC_000005.10:g.17208572_17208573del, NC_000005.10:g.17208573del, NC_000005.10:g.17208573dup, NC_000005.10:g.17208572_17208573dup, NC_000005.10:g.17208571_17208573dup, NC_000005.10:g.17208570_17208573dup, NC_000005.10:g.17208569_17208573dup, NC_000005.10:g.17208568_17208573dup, NC_000005.10:g.17208567_17208573dup, NC_000005.10:g.17208566_17208573dup, NC_000005.10:g.17208565_17208573dup, NC_000005.10:g.17208564_17208573dup, NC_000005.10:g.17208563_17208573dup, NC_000005.10:g.17208562_17208573dup, NC_000005.10:g.17208561_17208573dup, NC_000005.10:g.17208560_17208573dup, NC_000005.10:g.17208559_17208573dup, NC_000005.10:g.17208558_17208573dup, NC_000005.10:g.17208557_17208573dup, NC_000005.10:g.17208556_17208573dup, NC_000005.10:g.17208555_17208573dup, NC_000005.10:g.17208554_17208573dup, NC_000005.10:g.17208550_17208573dup, NC_000005.10:g.17208549_17208573dup, NC_000005.10:g.17208548_17208573dup, NC_000005.10:g.17208573_17208574insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.17208573_17208574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17208664_17208682del, NC_000005.9:g.17208668_17208682del, NC_000005.9:g.17208669_17208682del, NC_000005.9:g.17208670_17208682del, NC_000005.9:g.17208673_17208682del, NC_000005.9:g.17208674_17208682del, NC_000005.9:g.17208675_17208682del, NC_000005.9:g.17208676_17208682del, NC_000005.9:g.17208677_17208682del, NC_000005.9:g.17208678_17208682del, NC_000005.9:g.17208679_17208682del, NC_000005.9:g.17208680_17208682del, NC_000005.9:g.17208681_17208682del, NC_000005.9:g.17208682del, NC_000005.9:g.17208682dup, NC_000005.9:g.17208681_17208682dup, NC_000005.9:g.17208680_17208682dup, NC_000005.9:g.17208679_17208682dup, NC_000005.9:g.17208678_17208682dup, NC_000005.9:g.17208677_17208682dup, NC_000005.9:g.17208676_17208682dup, NC_000005.9:g.17208675_17208682dup, NC_000005.9:g.17208674_17208682dup, NC_000005.9:g.17208673_17208682dup, NC_000005.9:g.17208672_17208682dup, NC_000005.9:g.17208671_17208682dup, NC_000005.9:g.17208670_17208682dup, NC_000005.9:g.17208669_17208682dup, NC_000005.9:g.17208668_17208682dup, NC_000005.9:g.17208667_17208682dup, NC_000005.9:g.17208666_17208682dup, NC_000005.9:g.17208665_17208682dup, NC_000005.9:g.17208664_17208682dup, NC_000005.9:g.17208663_17208682dup, NC_000005.9:g.17208659_17208682dup, NC_000005.9:g.17208658_17208682dup, NC_000005.9:g.17208657_17208682dup, NC_000005.9:g.17208682_17208683insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.17208682_17208683insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149111638917.

rs1491116389 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 5:17153394 (GRCh38)
5:17153504 (GRCh37)
Canonical SPDI:: NC_000005.10:17153394:A:ACA
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.00053/12 (GnomAD)
HGVS:: NC_000005.10:g.17153395_17153396insCA, NC_000005.9:g.17153504_17153505insCA

Select item 149110797418.

rs1491107974 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:17191857 (GRCh38)
5:17191966 (GRCh37)
Canonical SPDI:: NC_000005.10:17191856:GA:
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.17191857_17191858del, NC_000005.9:g.17191966_17191967del

Select item 149105252919.

rs1491052529 has merged into rs55693237 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 5:17149196 (GRCh38)
5:17149305 (GRCh37)
Canonical SPDI:: NC_000005.10:17149185:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:17149185:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:17149185:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:17149185:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:17149185:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:17149185:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:17149185:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.1917/711 (TWINSUK)
T=0.1954/753 (ALSPAC)
T=0.3/12 (GENOME_DK)
T=0.3064/182 (NorthernSweden)
-=0.4245/2124 (1000Genomes)
HGVS:: NC_000005.10:g.17149196_17149199del, NC_000005.10:g.17149197_17149199del, NC_000005.10:g.17149198_17149199del, NC_000005.10:g.17149199del, NC_000005.10:g.17149199dup, NC_000005.10:g.17149198_17149199dup, NC_000005.10:g.17149195_17149199dup, NC_000005.9:g.17149305_17149308del, NC_000005.9:g.17149306_17149308del, NC_000005.9:g.17149307_17149308del, NC_000005.9:g.17149308del, NC_000005.9:g.17149308dup, NC_000005.9:g.17149307_17149308dup, NC_000005.9:g.17149304_17149308dup

Select item 149101936920.

rs1491019369 has merged into rs34200183 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:17145167 (GRCh38)
5:17145276 (GRCh37)
Canonical SPDI:: NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:17145157:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BASP1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.5/4 (KOREAN)
HGVS:: NC_000005.10:g.17145167_17145175del, NC_000005.10:g.17145169_17145175del, NC_000005.10:g.17145170_17145175del, NC_000005.10:g.17145171_17145175del, NC_000005.10:g.17145172_17145175del, NC_000005.10:g.17145173_17145175del, NC_000005.10:g.17145174_17145175del, NC_000005.10:g.17145175del, NC_000005.10:g.17145175dup, NC_000005.10:g.17145174_17145175dup, NC_000005.10:g.17145173_17145175dup, NC_000005.10:g.17145172_17145175dup, NC_000005.10:g.17145169_17145175dup, NC_000005.10:g.17145168_17145175dup, NC_000005.10:g.17145167_17145175dup, NC_000005.10:g.17145165_17145175dup, NC_000005.9:g.17145276_17145284del, NC_000005.9:g.17145278_17145284del, NC_000005.9:g.17145279_17145284del, NC_000005.9:g.17145280_17145284del, NC_000005.9:g.17145281_17145284del, NC_000005.9:g.17145282_17145284del, NC_000005.9:g.17145283_17145284del, NC_000005.9:g.17145284del, NC_000005.9:g.17145284dup, NC_000005.9:g.17145283_17145284dup, NC_000005.9:g.17145282_17145284dup, NC_000005.9:g.17145281_17145284dup, NC_000005.9:g.17145278_17145284dup, NC_000005.9:g.17145277_17145284dup, NC_000005.9:g.17145276_17145284dup, NC_000005.9:g.17145274_17145284dup

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