SNP Links for Nucleotide (Select 237874277) - SNP

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Select item 14915070701.

rs1491507070 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 19:48957258 (GRCh38)
19:49460515 (GRCh37)
Canonical SPDI:: NC_000019.10:48957254:TTTTT:TTT,NC_000019.10:48957254:TTTTT:TTTT
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000012/1 (GnomAD)
-=0.000079/1 (TOMMO)
HGVS:: NC_000019.10:g.48957258_48957259del, NC_000019.10:g.48957259del, NC_000019.9:g.49460515_49460516del, NC_000019.9:g.49460516del, NG_012191.1:g.7399_7400del, NG_012191.1:g.7400del

Select item 14914164042.

rs1491416404 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:48959349 (GRCh38)
19:49462606 (GRCh37)
Canonical SPDI:: NC_000019.10:48959348:CA:
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00506/60 (ALFA)
-=0.00327/88 (TOMMO)
HGVS:: NC_000019.10:g.48959349_48959350del, NC_000019.9:g.49462606_49462607del, NG_012191.1:g.9490_9491del

Select item 14913336583.

rs1491333658 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTT [Show Flanks]
Chromosome:: 19:48957255 (GRCh38)
19:49460513 (GRCh37)
Canonical SPDI:: NC_000019.10:48957255:TTTTCTTTTCTTTT:TTTTCTTTTCTTTTCTTTT
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTTC=0.000024/3 (GnomAD)
HGVS:: NC_000019.10:g.48957260CTTTT[3], NC_000019.9:g.49460517CTTTT[3], NG_012191.1:g.7401CTTTT[3]

Select item 14913150124.

rs1491315012 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 19:48957266 (GRCh38)
19:49460524 (GRCh37)
Canonical SPDI:: NC_000019.10:48957266:TTT:TTTCTTT
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.48957269_48957270insCTTT, NC_000019.9:g.49460526_49460527insCTTT, NG_012191.1:g.7410_7411insCTTT

Select item 14912331495.

rs1491233149 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTACCTCCCCTCTCTCTGGGTCTCT [Show Flanks]
Chromosome:: 19:48962914 (GRCh38)
19:49466172 (GRCh37)
Canonical SPDI:: NC_000019.10:48962914:TGGGTCTCTGTACCTCCCCTCTCTCTGGGTCTCT:TGGGTCTCTGTACCTCCCCTCTCTCTGGGTCTCTGTACCTCCCCTCTCTCTGGGTCTCT
Validated:: by frequency,by cluster
MAF:: TGGGTCTCTGTACCTCCCCTCTCTC=0.000806/108 (GnomAD)
TGGGTCTCTGTACCTCCCCTCTCTC=0.001562/10 (1000Genomes)
HGVS:: NC_000019.10:g.48962924_48962948dup, NC_000019.9:g.49466181_49466205dup, NG_012191.1:g.13065_13089dup, NG_008152.1:g.2616_2640dup

Select item 14912251216.

rs1491225121 has merged into rs71179067 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:48959358 (GRCh38)
19:49462615 (GRCh37)
Canonical SPDI:: NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:48959349:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000019.10:g.48959358_48959371del, NC_000019.10:g.48959359_48959371del, NC_000019.10:g.48959360_48959371del, NC_000019.10:g.48959361_48959371del, NC_000019.10:g.48959363_48959371del, NC_000019.10:g.48959364_48959371del, NC_000019.10:g.48959365_48959371del, NC_000019.10:g.48959366_48959371del, NC_000019.10:g.48959367_48959371del, NC_000019.10:g.48959368_48959371del, NC_000019.10:g.48959369_48959371del, NC_000019.10:g.48959370_48959371del, NC_000019.10:g.48959371del, NC_000019.10:g.48959371dup, NC_000019.10:g.48959370_48959371dup, NC_000019.10:g.48959369_48959371dup, NC_000019.10:g.48959368_48959371dup, NC_000019.10:g.48959367_48959371dup, NC_000019.10:g.48959366_48959371dup, NC_000019.10:g.48959364_48959371dup, NC_000019.9:g.49462615_49462628del, NC_000019.9:g.49462616_49462628del, NC_000019.9:g.49462617_49462628del, NC_000019.9:g.49462618_49462628del, NC_000019.9:g.49462620_49462628del, NC_000019.9:g.49462621_49462628del, NC_000019.9:g.49462622_49462628del, NC_000019.9:g.49462623_49462628del, NC_000019.9:g.49462624_49462628del, NC_000019.9:g.49462625_49462628del, NC_000019.9:g.49462626_49462628del, NC_000019.9:g.49462627_49462628del, NC_000019.9:g.49462628del, NC_000019.9:g.49462628dup, NC_000019.9:g.49462627_49462628dup, NC_000019.9:g.49462626_49462628dup, NC_000019.9:g.49462625_49462628dup, NC_000019.9:g.49462624_49462628dup, NC_000019.9:g.49462623_49462628dup, NC_000019.9:g.49462621_49462628dup, NG_012191.1:g.9499_9512del, NG_012191.1:g.9500_9512del, NG_012191.1:g.9501_9512del, NG_012191.1:g.9502_9512del, NG_012191.1:g.9504_9512del, NG_012191.1:g.9505_9512del, NG_012191.1:g.9506_9512del, NG_012191.1:g.9507_9512del, NG_012191.1:g.9508_9512del, NG_012191.1:g.9509_9512del, NG_012191.1:g.9510_9512del, NG_012191.1:g.9511_9512del, NG_012191.1:g.9512del, NG_012191.1:g.9512dup, NG_012191.1:g.9511_9512dup, NG_012191.1:g.9510_9512dup, NG_012191.1:g.9509_9512dup, NG_012191.1:g.9508_9512dup, NG_012191.1:g.9507_9512dup, NG_012191.1:g.9505_9512dup

Select item 14911996667.

rs1491199666 has merged into rs34043541 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:48958360 (GRCh38)
19:49461617 (GRCh37)
Canonical SPDI:: NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48958345:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.48958360_48958372del, NC_000019.10:g.48958361_48958372del, NC_000019.10:g.48958362_48958372del, NC_000019.10:g.48958363_48958372del, NC_000019.10:g.48958364_48958372del, NC_000019.10:g.48958365_48958372del, NC_000019.10:g.48958366_48958372del, NC_000019.10:g.48958367_48958372del, NC_000019.10:g.48958368_48958372del, NC_000019.10:g.48958369_48958372del, NC_000019.10:g.48958370_48958372del, NC_000019.10:g.48958371_48958372del, NC_000019.10:g.48958372del, NC_000019.10:g.48958372dup, NC_000019.10:g.48958371_48958372dup, NC_000019.10:g.48958370_48958372dup, NC_000019.10:g.48958369_48958372dup, NC_000019.10:g.48958368_48958372dup, NC_000019.10:g.48958367_48958372dup, NC_000019.10:g.48958366_48958372dup, NC_000019.10:g.48958365_48958372dup, NC_000019.10:g.48958364_48958372dup, NC_000019.9:g.49461617_49461629del, NC_000019.9:g.49461618_49461629del, NC_000019.9:g.49461619_49461629del, NC_000019.9:g.49461620_49461629del, NC_000019.9:g.49461621_49461629del, NC_000019.9:g.49461622_49461629del, NC_000019.9:g.49461623_49461629del, NC_000019.9:g.49461624_49461629del, NC_000019.9:g.49461625_49461629del, NC_000019.9:g.49461626_49461629del, NC_000019.9:g.49461627_49461629del, NC_000019.9:g.49461628_49461629del, NC_000019.9:g.49461629del, NC_000019.9:g.49461629dup, NC_000019.9:g.49461628_49461629dup, NC_000019.9:g.49461627_49461629dup, NC_000019.9:g.49461626_49461629dup, NC_000019.9:g.49461625_49461629dup, NC_000019.9:g.49461624_49461629dup, NC_000019.9:g.49461623_49461629dup, NC_000019.9:g.49461622_49461629dup, NC_000019.9:g.49461621_49461629dup, NG_012191.1:g.8501_8513del, NG_012191.1:g.8502_8513del, NG_012191.1:g.8503_8513del, NG_012191.1:g.8504_8513del, NG_012191.1:g.8505_8513del, NG_012191.1:g.8506_8513del, NG_012191.1:g.8507_8513del, NG_012191.1:g.8508_8513del, NG_012191.1:g.8509_8513del, NG_012191.1:g.8510_8513del, NG_012191.1:g.8511_8513del, NG_012191.1:g.8512_8513del, NG_012191.1:g.8513del, NG_012191.1:g.8513dup, NG_012191.1:g.8512_8513dup, NG_012191.1:g.8511_8513dup, NG_012191.1:g.8510_8513dup, NG_012191.1:g.8509_8513dup, NG_012191.1:g.8508_8513dup, NG_012191.1:g.8507_8513dup, NG_012191.1:g.8506_8513dup, NG_012191.1:g.8505_8513dup

Select item 14911931508.

rs1491193150 has merged into rs61415800 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:48957276 (GRCh38)
19:49460533 (GRCh37)
Canonical SPDI:: NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:48957265:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48957276_48957292del, NC_000019.10:g.48957279_48957292del, NC_000019.10:g.48957280_48957292del, NC_000019.10:g.48957281_48957292del, NC_000019.10:g.48957282_48957292del, NC_000019.10:g.48957283_48957292del, NC_000019.10:g.48957284_48957292del, NC_000019.10:g.48957285_48957292del, NC_000019.10:g.48957286_48957292del, NC_000019.10:g.48957287_48957292del, NC_000019.10:g.48957288_48957292del, NC_000019.10:g.48957289_48957292del, NC_000019.10:g.48957290_48957292del, NC_000019.10:g.48957291_48957292del, NC_000019.10:g.48957292del, NC_000019.10:g.48957292dup, NC_000019.10:g.48957291_48957292dup, NC_000019.10:g.48957290_48957292dup, NC_000019.10:g.48957289_48957292dup, NC_000019.10:g.48957288_48957292dup, NC_000019.10:g.48957287_48957292dup, NC_000019.10:g.48957285_48957292dup, NC_000019.10:g.48957284_48957292dup, NC_000019.10:g.48957283_48957292dup, NC_000019.10:g.48957282_48957292dup, NC_000019.10:g.48957281_48957292dup, NC_000019.10:g.48957280_48957292dup, NC_000019.10:g.48957279_48957292dup, NC_000019.10:g.48957278_48957292dup, NC_000019.10:g.48957277_48957292dup, NC_000019.10:g.48957276_48957292dup, NC_000019.10:g.48957275_48957292dup, NC_000019.10:g.48957274_48957292dup, NC_000019.10:g.48957273_48957292dup, NC_000019.10:g.48957270_48957292dup, NC_000019.10:g.48957269_48957292dup, NC_000019.10:g.48957266_48957292dup, NC_000019.10:g.48957292_48957293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.48957292_48957293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.48957292_48957293insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49460533_49460549del, NC_000019.9:g.49460536_49460549del, NC_000019.9:g.49460537_49460549del, NC_000019.9:g.49460538_49460549del, NC_000019.9:g.49460539_49460549del, NC_000019.9:g.49460540_49460549del, NC_000019.9:g.49460541_49460549del, NC_000019.9:g.49460542_49460549del, NC_000019.9:g.49460543_49460549del, NC_000019.9:g.49460544_49460549del, NC_000019.9:g.49460545_49460549del, NC_000019.9:g.49460546_49460549del, NC_000019.9:g.49460547_49460549del, NC_000019.9:g.49460548_49460549del, NC_000019.9:g.49460549del, NC_000019.9:g.49460549dup, NC_000019.9:g.49460548_49460549dup, NC_000019.9:g.49460547_49460549dup, NC_000019.9:g.49460546_49460549dup, NC_000019.9:g.49460545_49460549dup, NC_000019.9:g.49460544_49460549dup, NC_000019.9:g.49460542_49460549dup, NC_000019.9:g.49460541_49460549dup, NC_000019.9:g.49460540_49460549dup, NC_000019.9:g.49460539_49460549dup, NC_000019.9:g.49460538_49460549dup, NC_000019.9:g.49460537_49460549dup, NC_000019.9:g.49460536_49460549dup, NC_000019.9:g.49460535_49460549dup, NC_000019.9:g.49460534_49460549dup, NC_000019.9:g.49460533_49460549dup, NC_000019.9:g.49460532_49460549dup, NC_000019.9:g.49460531_49460549dup, NC_000019.9:g.49460530_49460549dup, NC_000019.9:g.49460527_49460549dup, NC_000019.9:g.49460526_49460549dup, NC_000019.9:g.49460523_49460549dup, NC_000019.9:g.49460549_49460550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49460549_49460550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.49460549_49460550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012191.1:g.7417_7433del, NG_012191.1:g.7420_7433del, NG_012191.1:g.7421_7433del, NG_012191.1:g.7422_7433del, NG_012191.1:g.7423_7433del, NG_012191.1:g.7424_7433del, NG_012191.1:g.7425_7433del, NG_012191.1:g.7426_7433del, NG_012191.1:g.7427_7433del, NG_012191.1:g.7428_7433del, NG_012191.1:g.7429_7433del, NG_012191.1:g.7430_7433del, NG_012191.1:g.7431_7433del, NG_012191.1:g.7432_7433del, NG_012191.1:g.7433del, NG_012191.1:g.7433dup, NG_012191.1:g.7432_7433dup, NG_012191.1:g.7431_7433dup, NG_012191.1:g.7430_7433dup, NG_012191.1:g.7429_7433dup, NG_012191.1:g.7428_7433dup, NG_012191.1:g.7426_7433dup, NG_012191.1:g.7425_7433dup, NG_012191.1:g.7424_7433dup, NG_012191.1:g.7423_7433dup, NG_012191.1:g.7422_7433dup, NG_012191.1:g.7421_7433dup, NG_012191.1:g.7420_7433dup, NG_012191.1:g.7419_7433dup, NG_012191.1:g.7418_7433dup, NG_012191.1:g.7417_7433dup, NG_012191.1:g.7416_7433dup, NG_012191.1:g.7415_7433dup, NG_012191.1:g.7414_7433dup, NG_012191.1:g.7411_7433dup, NG_012191.1:g.7410_7433dup, NG_012191.1:g.7407_7433dup, NG_012191.1:g.7433_7434insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012191.1:g.7433_7434insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012191.1:g.7433_7434insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911482709.

rs1491148270 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:48958345 (GRCh38)
19:49461602 (GRCh37)
Canonical SPDI:: NC_000019.10:48958344:AT:
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000019.10:g.48958345_48958346del, NC_000019.9:g.49461602_49461603del, NG_012191.1:g.8486_8487del

Select item 149104027610.

rs1491040276 has merged into rs1401538672 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 19:48958555 (GRCh38)
19:49461812 (GRCh37)
Canonical SPDI:: NC_000019.10:48958544:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:48958544:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:48958544:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:48958544:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:48958544:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.48958555_48958556del, NC_000019.10:g.48958556del, NC_000019.10:g.48958556dup, NC_000019.10:g.48958555_48958556dup, NC_000019.10:g.48958554_48958556dup, NC_000019.9:g.49461812_49461813del, NC_000019.9:g.49461813del, NC_000019.9:g.49461813dup, NC_000019.9:g.49461812_49461813dup, NC_000019.9:g.49461811_49461813dup, NG_012191.1:g.8696_8697del, NG_012191.1:g.8697del, NG_012191.1:g.8697dup, NG_012191.1:g.8696_8697dup, NG_012191.1:g.8695_8697dup

Select item 149094560011.

rs1490945600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48957275 (GRCh38)
19:49460532 (GRCh37)
Canonical SPDI:: NC_000019.10:48957274:T:C
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000262/29 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.48957275T>C, NC_000019.9:g.49460532T>C, NG_012191.1:g.7416T>C

Select item 148998816912.

rs1489988169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:48954507 (GRCh38)
19:49457764 (GRCh37)
Canonical SPDI:: NC_000019.10:48954506:A:G
Gene:: BAX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48954507A>G, NC_000019.9:g.49457764A>G, NG_012191.1:g.4648A>G

Select item 148992423713.

rs1489924237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:48958278 (GRCh38)
19:49461535 (GRCh37)
Canonical SPDI:: NC_000019.10:48958277:T:C
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.48958278T>C, NC_000019.9:g.49461535T>C, NG_012191.1:g.8419T>C

Select item 148962070914.

rs1489620709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:48954224 (GRCh38)
19:49457481 (GRCh37)
Canonical SPDI:: NC_000019.10:48954223:G:A
Gene:: BAX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.48954224G>A, NC_000019.9:g.49457481G>A, NG_012191.1:g.4365G>A

Select item 148952347115.

rs1489523471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:48960535 (GRCh38)
19:49463792 (GRCh37)
Canonical SPDI:: NC_000019.10:48960534:G:T
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.48960535G>T, NC_000019.9:g.49463792G>T, NG_012191.1:g.10676G>T, NG_008152.1:g.227G>T

Select item 148941101016.

rs1489411010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:48960244 (GRCh38)
19:49463501 (GRCh37)
Canonical SPDI:: NC_000019.10:48960243:C:A,NC_000019.10:48960243:C:T
Gene:: BAX (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000025/3 (GnomAD_exomes)
T=0.000156/1 (1000Genomes)
T=0.000684/2 (KOREAN)
T=0.000955/16 (TOMMO)
HGVS:: NC_000019.10:g.48960244C>A, NC_000019.10:g.48960244C>T, NC_000019.9:g.49463501C>A, NC_000019.9:g.49463501C>T, NG_012191.1:g.10385C>A, NG_012191.1:g.10385C>T, NR_027882.2:n.429C>A, NR_027882.2:n.429C>T, NR_027882.1:n.444C>A, NR_027882.1:n.444C>T

Select item 148938008617.

rs1489380086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:48959804 (GRCh38)
19:49463061 (GRCh37)
Canonical SPDI:: NC_000019.10:48959803:C:A,NC_000019.10:48959803:C:T
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.001714/5 (KOREAN)
HGVS:: NC_000019.10:g.48959804C>A, NC_000019.10:g.48959804C>T, NC_000019.9:g.49463061C>A, NC_000019.9:g.49463061C>T, NG_012191.1:g.9945C>A, NG_012191.1:g.9945C>T

Select item 148936159218.

rs1489361592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:48960310 (GRCh38)
19:49463567 (GRCh37)
Canonical SPDI:: NC_000019.10:48960309:C:T
Gene:: BAX (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48960310C>T, NC_000019.9:g.49463567C>T, NG_012191.1:g.10451C>T, NR_027882.2:n.495C>T, NR_027882.1:n.510C>T, NG_008152.1:g.2C>T

Select item 148931077119.

rs1489310771 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:48959122 (GRCh38)
19:49462379 (GRCh37)
Canonical SPDI:: NC_000019.10:48959121:A:
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.48959122del, NC_000019.9:g.49462379del, NG_012191.1:g.9263del

Select item 148923999620.

rs1489239996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:48956347 (GRCh38)
19:49459604 (GRCh37)
Canonical SPDI:: NC_000019.10:48956346:G:C
Gene:: BAX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.48956347G>C, NC_000019.9:g.49459604G>C, NG_012191.1:g.6488G>C

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