SNP Links for Gene (Select 5495) - SNP

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Select item 14915657321.

rs1491565732 has merged into rs58214419 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:44171840 (GRCh38)
2:44398979 (GRCh37)
Canonical SPDI:: NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44171829:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAA=0.2436/1220 (1000Genomes)
-=0.4011/211 (NorthernSweden)
HGVS:: NC_000002.12:g.44171840_44171852del, NC_000002.12:g.44171841_44171852del, NC_000002.12:g.44171842_44171852del, NC_000002.12:g.44171843_44171852del, NC_000002.12:g.44171844_44171852del, NC_000002.12:g.44171845_44171852del, NC_000002.12:g.44171846_44171852del, NC_000002.12:g.44171847_44171852del, NC_000002.12:g.44171848_44171852del, NC_000002.12:g.44171849_44171852del, NC_000002.12:g.44171850_44171852del, NC_000002.12:g.44171851_44171852del, NC_000002.12:g.44171852del, NC_000002.12:g.44171852dup, NC_000002.12:g.44171851_44171852dup, NC_000002.12:g.44171850_44171852dup, NC_000002.12:g.44171849_44171852dup, NC_000002.12:g.44171848_44171852dup, NC_000002.11:g.44398979_44398991del, NC_000002.11:g.44398980_44398991del, NC_000002.11:g.44398981_44398991del, NC_000002.11:g.44398982_44398991del, NC_000002.11:g.44398983_44398991del, NC_000002.11:g.44398984_44398991del, NC_000002.11:g.44398985_44398991del, NC_000002.11:g.44398986_44398991del, NC_000002.11:g.44398987_44398991del, NC_000002.11:g.44398988_44398991del, NC_000002.11:g.44398989_44398991del, NC_000002.11:g.44398990_44398991del, NC_000002.11:g.44398991del, NC_000002.11:g.44398991dup, NC_000002.11:g.44398990_44398991dup, NC_000002.11:g.44398989_44398991dup, NC_000002.11:g.44398988_44398991dup, NC_000002.11:g.44398987_44398991dup, NG_011678.1:g.7980_7992del, NG_011678.1:g.7981_7992del, NG_011678.1:g.7982_7992del, NG_011678.1:g.7983_7992del, NG_011678.1:g.7984_7992del, NG_011678.1:g.7985_7992del, NG_011678.1:g.7986_7992del, NG_011678.1:g.7987_7992del, NG_011678.1:g.7988_7992del, NG_011678.1:g.7989_7992del, NG_011678.1:g.7990_7992del, NG_011678.1:g.7991_7992del, NG_011678.1:g.7992del, NG_011678.1:g.7992dup, NG_011678.1:g.7991_7992dup, NG_011678.1:g.7990_7992dup, NG_011678.1:g.7989_7992dup, NG_011678.1:g.7988_7992dup

Select item 14915623462.

rs1491562346 has merged into rs75767532 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:44224465 (GRCh38)
2:44451604 (GRCh37)
Canonical SPDI:: NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:44224455:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAA=0.000004/1 (TOPMED)
-=0.4/16 (GENOME_DK)
-=0.490809/267 (NorthernSweden)
HGVS:: NC_000002.12:g.44224465_44224475del, NC_000002.12:g.44224466_44224475del, NC_000002.12:g.44224467_44224475del, NC_000002.12:g.44224468_44224475del, NC_000002.12:g.44224469_44224475del, NC_000002.12:g.44224470_44224475del, NC_000002.12:g.44224471_44224475del, NC_000002.12:g.44224472_44224475del, NC_000002.12:g.44224473_44224475del, NC_000002.12:g.44224474_44224475del, NC_000002.12:g.44224475del, NC_000002.12:g.44224475dup, NC_000002.12:g.44224474_44224475dup, NC_000002.12:g.44224473_44224475dup, NC_000002.12:g.44224472_44224475dup, NC_000002.12:g.44224471_44224475dup, NC_000002.12:g.44224470_44224475dup, NC_000002.11:g.44451604_44451614del, NC_000002.11:g.44451605_44451614del, NC_000002.11:g.44451606_44451614del, NC_000002.11:g.44451607_44451614del, NC_000002.11:g.44451608_44451614del, NC_000002.11:g.44451609_44451614del, NC_000002.11:g.44451610_44451614del, NC_000002.11:g.44451611_44451614del, NC_000002.11:g.44451612_44451614del, NC_000002.11:g.44451613_44451614del, NC_000002.11:g.44451614del, NC_000002.11:g.44451614dup, NC_000002.11:g.44451613_44451614dup, NC_000002.11:g.44451612_44451614dup, NC_000002.11:g.44451611_44451614dup, NC_000002.11:g.44451610_44451614dup, NC_000002.11:g.44451609_44451614dup, NG_011678.1:g.60605_60615del, NG_011678.1:g.60606_60615del, NG_011678.1:g.60607_60615del, NG_011678.1:g.60608_60615del, NG_011678.1:g.60609_60615del, NG_011678.1:g.60610_60615del, NG_011678.1:g.60611_60615del, NG_011678.1:g.60612_60615del, NG_011678.1:g.60613_60615del, NG_011678.1:g.60614_60615del, NG_011678.1:g.60615del, NG_011678.1:g.60615dup, NG_011678.1:g.60614_60615dup, NG_011678.1:g.60613_60615dup, NG_011678.1:g.60612_60615dup, NG_011678.1:g.60611_60615dup, NG_011678.1:g.60610_60615dup

Select item 14915412013.

rs1491541201 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 2:44188394 (GRCh38)
2:44415534 (GRCh37)
Canonical SPDI:: NC_000002.12:44188394:TT:TTCTT
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.00021/5 (TOMMO)
HGVS:: NC_000002.12:g.44188396_44188397insCTT, NC_000002.11:g.44415535_44415536insCTT, NG_011678.1:g.24536_24537insCTT

Select item 14915260614.

rs1491526061 [Homo sapiens]

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

Select item 14915167395.

rs1491516739 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:44171829 (GRCh38)
2:44398968 (GRCh37)
Canonical SPDI:: NC_000002.12:44171828:CA:
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.44171829_44171830del, NC_000002.11:g.44398968_44398969del, NG_011678.1:g.7969_7970del

Select item 14914210596.

rs1491421059 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:44238784 (GRCh38)
2:44465923 (GRCh37)
Canonical SPDI:: NC_000002.12:44238783:TA:
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.44238784_44238785del, NC_000002.11:g.44465923_44465924del

Select item 14913795037.

rs1491379503 has merged into rs66631221 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:44239903 (GRCh38)
2:44467042 (GRCh37)
Canonical SPDI:: NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTT,NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTTT,NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:44239896:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.3287/1646 (1000Genomes)
HGVS:: NC_000002.12:g.44239903_44239908del, NC_000002.12:g.44239904_44239908del, NC_000002.12:g.44239907_44239908del, NC_000002.12:g.44239908del, NC_000002.12:g.44239908dup, NC_000002.12:g.44239907_44239908dup, NC_000002.12:g.44239906_44239908dup, NC_000002.12:g.44239904_44239908dup, NC_000002.12:g.44239903_44239908dup, NC_000002.12:g.44239902_44239908dup, NC_000002.12:g.44239901_44239908dup, NC_000002.11:g.44467042_44467047del, NC_000002.11:g.44467043_44467047del, NC_000002.11:g.44467046_44467047del, NC_000002.11:g.44467047del, NC_000002.11:g.44467047dup, NC_000002.11:g.44467046_44467047dup, NC_000002.11:g.44467045_44467047dup, NC_000002.11:g.44467043_44467047dup, NC_000002.11:g.44467042_44467047dup, NC_000002.11:g.44467041_44467047dup, NC_000002.11:g.44467040_44467047dup

Select item 14913495998.

rs1491349599 has merged into rs67959948 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:44188403 (GRCh38)
2:44415542 (GRCh37)
Canonical SPDI:: NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44188393:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.3131/1568 (1000Genomes)
HGVS:: NC_000002.12:g.44188403_44188413del, NC_000002.12:g.44188404_44188413del, NC_000002.12:g.44188407_44188413del, NC_000002.12:g.44188408_44188413del, NC_000002.12:g.44188409_44188413del, NC_000002.12:g.44188410_44188413del, NC_000002.12:g.44188411_44188413del, NC_000002.12:g.44188412_44188413del, NC_000002.12:g.44188413del, NC_000002.12:g.44188413dup, NC_000002.12:g.44188412_44188413dup, NC_000002.12:g.44188411_44188413dup, NC_000002.12:g.44188410_44188413dup, NC_000002.12:g.44188409_44188413dup, NC_000002.12:g.44188408_44188413dup, NC_000002.12:g.44188407_44188413dup, NC_000002.12:g.44188406_44188413dup, NC_000002.12:g.44188405_44188413dup, NC_000002.12:g.44188404_44188413dup, NC_000002.12:g.44188403_44188413dup, NC_000002.12:g.44188402_44188413dup, NC_000002.12:g.44188401_44188413dup, NC_000002.12:g.44188397_44188413dup, NC_000002.12:g.44188413_44188414insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.44415542_44415552del, NC_000002.11:g.44415543_44415552del, NC_000002.11:g.44415546_44415552del, NC_000002.11:g.44415547_44415552del, NC_000002.11:g.44415548_44415552del, NC_000002.11:g.44415549_44415552del, NC_000002.11:g.44415550_44415552del, NC_000002.11:g.44415551_44415552del, NC_000002.11:g.44415552del, NC_000002.11:g.44415552dup, NC_000002.11:g.44415551_44415552dup, NC_000002.11:g.44415550_44415552dup, NC_000002.11:g.44415549_44415552dup, NC_000002.11:g.44415548_44415552dup, NC_000002.11:g.44415547_44415552dup, NC_000002.11:g.44415546_44415552dup, NC_000002.11:g.44415545_44415552dup, NC_000002.11:g.44415544_44415552dup, NC_000002.11:g.44415543_44415552dup, NC_000002.11:g.44415542_44415552dup, NC_000002.11:g.44415541_44415552dup, NC_000002.11:g.44415540_44415552dup, NC_000002.11:g.44415536_44415552dup, NC_000002.11:g.44415552_44415553insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011678.1:g.24543_24553del, NG_011678.1:g.24544_24553del, NG_011678.1:g.24547_24553del, NG_011678.1:g.24548_24553del, NG_011678.1:g.24549_24553del, NG_011678.1:g.24550_24553del, NG_011678.1:g.24551_24553del, NG_011678.1:g.24552_24553del, NG_011678.1:g.24553del, NG_011678.1:g.24553dup, NG_011678.1:g.24552_24553dup, NG_011678.1:g.24551_24553dup, NG_011678.1:g.24550_24553dup, NG_011678.1:g.24549_24553dup, NG_011678.1:g.24548_24553dup, NG_011678.1:g.24547_24553dup, NG_011678.1:g.24546_24553dup, NG_011678.1:g.24545_24553dup, NG_011678.1:g.24544_24553dup, NG_011678.1:g.24543_24553dup, NG_011678.1:g.24542_24553dup, NG_011678.1:g.24541_24553dup, NG_011678.1:g.24537_24553dup, NG_011678.1:g.24553_24554insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913478399.

rs1491347839 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:44166986 (GRCh38)
2:44394125 (GRCh37)
Canonical SPDI:: NC_000002.12:44166985:CT:
Gene:: PPM1B (Varview), LOC102723904 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.44166986_44166987del, NC_000002.11:g.44394125_44394126del, NG_011678.1:g.3126_3127del

Select item 149130760910.

rs1491307609 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:44166986 (GRCh38)
2:44394126 (GRCh37)
Canonical SPDI:: NC_000002.12:44166986:TTTTT:TTTTTT
Gene:: PPM1B (Varview), LOC102723904 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.000064/9 (GnomAD)
T=0.000087/23 (TOPMED)
HGVS:: NC_000002.12:g.44166991dup, NC_000002.11:g.44394130dup, NG_011678.1:g.3131dup

Select item 149130283311.

rs1491302833 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:44205171 (GRCh38)
2:44432310 (GRCh37)
Canonical SPDI:: NC_000002.12:44205170:GT:
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000435/61 (GnomAD)
-=0.000998/5 (1000Genomes)
HGVS:: NC_000002.12:g.44205171_44205172del, NC_000002.11:g.44432310_44432311del, NG_011678.1:g.41311_41312del

Select item 149128354512.

rs1491283545 has merged into rs1341851363 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:44175801 (GRCh38)
2:44402940 (GRCh37)
Canonical SPDI:: NC_000002.12:44175785:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:44175785:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:44175785:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:44175785:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:44175785:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:44175785:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44175785:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPM1B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.44175801_44175803del, NC_000002.12:g.44175802_44175803del, NC_000002.12:g.44175803del, NC_000002.12:g.44175803dup, NC_000002.12:g.44175802_44175803dup, NC_000002.12:g.44175801_44175803dup, NC_000002.12:g.44175795_44175803dup, NC_000002.11:g.44402940_44402942del, NC_000002.11:g.44402941_44402942del, NC_000002.11:g.44402942del, NC_000002.11:g.44402942dup, NC_000002.11:g.44402941_44402942dup, NC_000002.11:g.44402940_44402942dup, NC_000002.11:g.44402934_44402942dup, NG_011678.1:g.11941_11943del, NG_011678.1:g.11942_11943del, NG_011678.1:g.11943del, NG_011678.1:g.11943dup, NG_011678.1:g.11942_11943dup, NG_011678.1:g.11941_11943dup, NG_011678.1:g.11935_11943dup

Select item 149123025413.

rs1491230254 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:44177608 (GRCh38)
2:44404748 (GRCh37)
Canonical SPDI:: NC_000002.12:44177608:GGGG:GGGGG
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.44177612dup, NC_000002.11:g.44404751dup, NG_011678.1:g.13752dup

Select item 149122504814.

rs1491225048 [Homo sapiens]

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

Select item 149121397515.

rs1491213975 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:44224455 (GRCh38)
2:44451594 (GRCh37)
Canonical SPDI:: NC_000002.12:44224454:CA:
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.44224455_44224456del, NC_000002.11:g.44451594_44451595del, NG_011678.1:g.60595_60596del

Select item 149118882216.

rs1491188822 has merged into rs397984437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:44241869 (GRCh38)
2:44469008 (GRCh37)
Canonical SPDI:: NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:44241857:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0./0 (GENOME_DK)
HGVS:: NC_000002.12:g.44241869_44241876del, NC_000002.12:g.44241870_44241876del, NC_000002.12:g.44241871_44241876del, NC_000002.12:g.44241872_44241876del, NC_000002.12:g.44241873_44241876del, NC_000002.12:g.44241874_44241876del, NC_000002.12:g.44241875_44241876del, NC_000002.12:g.44241876del, NC_000002.12:g.44241858_44241876T[19]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.44241876dup, NC_000002.12:g.44241875_44241876dup, NC_000002.12:g.44241874_44241876dup, NC_000002.12:g.44241873_44241876dup, NC_000002.12:g.44241872_44241876dup, NC_000002.12:g.44241871_44241876dup, NC_000002.12:g.44241870_44241876dup, NC_000002.12:g.44241869_44241876dup, NC_000002.12:g.44241868_44241876dup, NC_000002.12:g.44241867_44241876dup, NC_000002.12:g.44241866_44241876dup, NC_000002.12:g.44241865_44241876dup, NC_000002.12:g.44241864_44241876dup, NC_000002.12:g.44241863_44241876dup, NC_000002.12:g.44241862_44241876dup, NC_000002.12:g.44241861_44241876dup, NC_000002.12:g.44241860_44241876dup, NC_000002.12:g.44241859_44241876dup, NC_000002.12:g.44241858_44241876dup, NC_000002.12:g.44241876_44241877insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.44469008_44469015del, NC_000002.11:g.44469009_44469015del, NC_000002.11:g.44469010_44469015del, NC_000002.11:g.44469011_44469015del, NC_000002.11:g.44469012_44469015del, NC_000002.11:g.44469013_44469015del, NC_000002.11:g.44469014_44469015del, NC_000002.11:g.44469015del, NC_000002.11:g.44468997_44469015T[19]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.44469015dup, NC_000002.11:g.44469014_44469015dup, NC_000002.11:g.44469013_44469015dup, NC_000002.11:g.44469012_44469015dup, NC_000002.11:g.44469011_44469015dup, NC_000002.11:g.44469010_44469015dup, NC_000002.11:g.44469009_44469015dup, NC_000002.11:g.44469008_44469015dup, NC_000002.11:g.44469007_44469015dup, NC_000002.11:g.44469006_44469015dup, NC_000002.11:g.44469005_44469015dup, NC_000002.11:g.44469004_44469015dup, NC_000002.11:g.44469003_44469015dup, NC_000002.11:g.44469002_44469015dup, NC_000002.11:g.44469001_44469015dup, NC_000002.11:g.44469000_44469015dup, NC_000002.11:g.44468999_44469015dup, NC_000002.11:g.44468998_44469015dup, NC_000002.11:g.44468997_44469015dup, NC_000002.11:g.44469015_44469016insTTTTTTTTTTTTTTTTTTTTT

Select item 149115454217.

rs1491154542 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:44236402 (GRCh38)
2:44463541 (GRCh37)
Canonical SPDI:: NC_000002.12:44236401:CA:
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.44236402_44236403del, NC_000002.11:g.44463541_44463542del, NG_011678.1:g.72542_72543del

Select item 149115240218.

rs1491152402 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AGATA,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 2:44178475 (GRCh38)
2:44405615 (GRCh37)
Canonical SPDI:: NC_000002.12:44178475::A,NC_000002.12:44178475::AGATA,NC_000002.12:44178475::ATA,NC_000002.12:44178475::ATATA,NC_000002.12:44178475::ATATATA,NC_000002.12:44178475::ATATATATA,NC_000002.12:44178475::ATATATATATA,NC_000002.12:44178475::ATATATATATATA,NC_000002.12:44178475::ATATATATATATATA,NC_000002.12:44178475::ATATATATATATATATA,NC_000002.12:44178475::ATATATATATATATATATA,NC_000002.12:44178475::ATATATATATATATATATATA,NC_000002.12:44178475::ATATATATATATATATATATATATA,NC_000002.12:44178475::ATATATATATATATATATATATATATA,NC_000002.12:44178475::ATATATATATATATATATATATATATATA
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.04412/18 (NorthernSweden)
HGVS:: NC_000002.12:g.44178475_44178476insA, NC_000002.12:g.44178475_44178476insAGATA, NC_000002.12:g.44178475_44178476insATA, NC_000002.12:g.44178475_44178476insATATA, NC_000002.12:g.44178475_44178476insATATATA, NC_000002.12:g.44178475_44178476insATATATATA, NC_000002.12:g.44178475_44178476insATATATATATA, NC_000002.12:g.44178475_44178476insATATATATATATA, NC_000002.12:g.44178475_44178476insATATATATATATATA, NC_000002.12:g.44178475_44178476insATATATATATATATATA, NC_000002.12:g.44178475_44178476insATATATATATATATATATA, NC_000002.12:g.44178475_44178476insATATATATATATATATATATA, NC_000002.12:g.44178475_44178476insATATATATATATATATATATATATA, NC_000002.12:g.44178475_44178476insATATATATATATATATATATATATATA, NC_000002.12:g.44178475_44178476insATATATATATATATATATATATATATATA, NC_000002.11:g.44405614_44405615insA, NC_000002.11:g.44405614_44405615insAGATA, NC_000002.11:g.44405614_44405615insATA, NC_000002.11:g.44405614_44405615insATATA, NC_000002.11:g.44405614_44405615insATATATA, NC_000002.11:g.44405614_44405615insATATATATA, NC_000002.11:g.44405614_44405615insATATATATATA, NC_000002.11:g.44405614_44405615insATATATATATATA, NC_000002.11:g.44405614_44405615insATATATATATATATA, NC_000002.11:g.44405614_44405615insATATATATATATATATA, NC_000002.11:g.44405614_44405615insATATATATATATATATATA, NC_000002.11:g.44405614_44405615insATATATATATATATATATATA, NC_000002.11:g.44405614_44405615insATATATATATATATATATATATATA, NC_000002.11:g.44405614_44405615insATATATATATATATATATATATATATA, NC_000002.11:g.44405614_44405615insATATATATATATATATATATATATATATA, NG_011678.1:g.14615_14616insA, NG_011678.1:g.14615_14616insAGATA, NG_011678.1:g.14615_14616insATA, NG_011678.1:g.14615_14616insATATA, NG_011678.1:g.14615_14616insATATATA, NG_011678.1:g.14615_14616insATATATATA, NG_011678.1:g.14615_14616insATATATATATA, NG_011678.1:g.14615_14616insATATATATATATA, NG_011678.1:g.14615_14616insATATATATATATATA, NG_011678.1:g.14615_14616insATATATATATATATATA, NG_011678.1:g.14615_14616insATATATATATATATATATA, NG_011678.1:g.14615_14616insATATATATATATATATATATA, NG_011678.1:g.14615_14616insATATATATATATATATATATATATA, NG_011678.1:g.14615_14616insATATATATATATATATATATATATATA, NG_011678.1:g.14615_14616insATATATATATATATATATATATATATATA

Select item 149113062419.

rs1491130624 has merged into rs1553333037 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGGG [Show Flanks]
Chromosome:: 2:44205354 (GRCh38)
2:44432493 (GRCh37)
Canonical SPDI:: NC_000002.12:44205352:GGG:G,NC_000002.12:44205352:GGG:GG,NC_000002.12:44205352:GGG:GGGGG
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/1 (ALFA)
-=0.00058/10 (TOMMO)
-=0.00164/3 (Korea1K)
-=0.26483/982 (TWINSUK)
-=0.27426/1057 (ALSPAC)
HGVS:: NC_000002.12:g.44205354_44205355del, NC_000002.12:g.44205355del, NC_000002.12:g.44205354_44205355dup, NC_000002.11:g.44432493_44432494del, NC_000002.11:g.44432494del, NC_000002.11:g.44432493_44432494dup, NG_011678.1:g.41494_41495del, NG_011678.1:g.41495del, NG_011678.1:g.41494_41495dup

Select item 149110196120.

rs1491101961 has merged into rs57257505 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 2:44178482 (GRCh38)
2:44405621 (GRCh37)
Canonical SPDI:: NC_000002.12:44178474:TTTTTTTTTTT:TTTTTTT,NC_000002.12:44178474:TTTTTTTTTTT:TTTTTTTT,NC_000002.12:44178474:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:44178474:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:44178474:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:44178474:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:44178474:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:44178474:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:44178474:TTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: PPM1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.2837/1421 (1000Genomes)
HGVS:: NC_000002.12:g.44178482_44178485del, NC_000002.12:g.44178483_44178485del, NC_000002.12:g.44178484_44178485del, NC_000002.12:g.44178485del, NC_000002.12:g.44178485dup, NC_000002.12:g.44178484_44178485dup, NC_000002.12:g.44178483_44178485dup, NC_000002.12:g.44178482_44178485dup, NC_000002.12:g.44178481_44178485dup, NC_000002.11:g.44405621_44405624del, NC_000002.11:g.44405622_44405624del, NC_000002.11:g.44405623_44405624del, NC_000002.11:g.44405624del, NC_000002.11:g.44405624dup, NC_000002.11:g.44405623_44405624dup, NC_000002.11:g.44405622_44405624dup, NC_000002.11:g.44405621_44405624dup, NC_000002.11:g.44405620_44405624dup, NG_011678.1:g.14622_14625del, NG_011678.1:g.14623_14625del, NG_011678.1:g.14624_14625del, NG_011678.1:g.14625del, NG_011678.1:g.14625dup, NG_011678.1:g.14624_14625dup, NG_011678.1:g.14623_14625dup, NG_011678.1:g.14622_14625dup, NG_011678.1:g.14621_14625dup

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