SNP Links for Gene (Select 5307) - SNP

Links from Gene

Items: 1 to 20 of 2638

<< First< Prev

Page of 132

Next >Last >>

Select item 14913097511.

rs1491309751 has merged into rs70976562 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:135028558 (GRCh38)
5:134364248 (GRCh37)
Canonical SPDI:: NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PITX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.135028558_135028573del, NC_000005.10:g.135028560_135028573del, NC_000005.10:g.135028561_135028573del, NC_000005.10:g.135028562_135028573del, NC_000005.10:g.135028563_135028573del, NC_000005.10:g.135028564_135028573del, NC_000005.10:g.135028565_135028573del, NC_000005.10:g.135028566_135028573del, NC_000005.10:g.135028567_135028573del, NC_000005.10:g.135028568_135028573del, NC_000005.10:g.135028569_135028573del, NC_000005.10:g.135028570_135028573del, NC_000005.10:g.135028571_135028573del, NC_000005.10:g.135028572_135028573del, NC_000005.10:g.135028573del, NC_000005.10:g.135028573dup, NC_000005.10:g.135028572_135028573dup, NC_000005.10:g.135028571_135028573dup, NC_000005.10:g.135028570_135028573dup, NC_000005.10:g.135028569_135028573dup, NC_000005.10:g.135028568_135028573dup, NC_000005.10:g.135028567_135028573dup, NC_000005.10:g.135028566_135028573dup, NC_000005.10:g.135028565_135028573dup, NC_000005.10:g.135028564_135028573dup, NC_000005.10:g.135028563_135028573dup, NC_000005.10:g.135028562_135028573dup, NC_000005.10:g.135028561_135028573dup, NC_000005.10:g.135028560_135028573dup, NC_000005.10:g.135028559_135028573dup, NC_000005.10:g.135028557_135028573dup, NC_000005.9:g.134364248_134364263del, NC_000005.9:g.134364250_134364263del, NC_000005.9:g.134364251_134364263del, NC_000005.9:g.134364252_134364263del, NC_000005.9:g.134364253_134364263del, NC_000005.9:g.134364254_134364263del, NC_000005.9:g.134364255_134364263del, NC_000005.9:g.134364256_134364263del, NC_000005.9:g.134364257_134364263del, NC_000005.9:g.134364258_134364263del, NC_000005.9:g.134364259_134364263del, NC_000005.9:g.134364260_134364263del, NC_000005.9:g.134364261_134364263del, NC_000005.9:g.134364262_134364263del, NC_000005.9:g.134364263del, NC_000005.9:g.134364263dup, NC_000005.9:g.134364262_134364263dup, NC_000005.9:g.134364261_134364263dup, NC_000005.9:g.134364260_134364263dup, NC_000005.9:g.134364259_134364263dup, NC_000005.9:g.134364258_134364263dup, NC_000005.9:g.134364257_134364263dup, NC_000005.9:g.134364256_134364263dup, NC_000005.9:g.134364255_134364263dup, NC_000005.9:g.134364254_134364263dup, NC_000005.9:g.134364253_134364263dup, NC_000005.9:g.134364252_134364263dup, NC_000005.9:g.134364251_134364263dup, NC_000005.9:g.134364250_134364263dup, NC_000005.9:g.134364249_134364263dup, NC_000005.9:g.134364247_134364263dup, NG_012114.1:g.10710_10725del, NG_012114.1:g.10712_10725del, NG_012114.1:g.10713_10725del, NG_012114.1:g.10714_10725del, NG_012114.1:g.10715_10725del, NG_012114.1:g.10716_10725del, NG_012114.1:g.10717_10725del, NG_012114.1:g.10718_10725del, NG_012114.1:g.10719_10725del, NG_012114.1:g.10720_10725del, NG_012114.1:g.10721_10725del, NG_012114.1:g.10722_10725del, NG_012114.1:g.10723_10725del, NG_012114.1:g.10724_10725del, NG_012114.1:g.10725del, NG_012114.1:g.10725dup, NG_012114.1:g.10724_10725dup, NG_012114.1:g.10723_10725dup, NG_012114.1:g.10722_10725dup, NG_012114.1:g.10721_10725dup, NG_012114.1:g.10720_10725dup, NG_012114.1:g.10719_10725dup, NG_012114.1:g.10718_10725dup, NG_012114.1:g.10717_10725dup, NG_012114.1:g.10716_10725dup, NG_012114.1:g.10715_10725dup, NG_012114.1:g.10714_10725dup, NG_012114.1:g.10713_10725dup, NG_012114.1:g.10712_10725dup, NG_012114.1:g.10711_10725dup, NG_012114.1:g.10709_10725dup, NM_002653.5:c.*214_*229del, NM_002653.5:c.*216_*229del, NM_002653.5:c.*217_*229del, NM_002653.5:c.*218_*229del, NM_002653.5:c.*219_*229del, NM_002653.5:c.*220_*229del, NM_002653.5:c.*221_*229del, NM_002653.5:c.*222_*229del, NM_002653.5:c.*223_*229del, NM_002653.5:c.*224_*229del, NM_002653.5:c.*225_*229del, NM_002653.5:c.*226_*229del, NM_002653.5:c.*227_*229del, NM_002653.5:c.*228_*229del, NM_002653.5:c.*229del, NM_002653.5:c.*229dup, NM_002653.5:c.*228_*229dup, NM_002653.5:c.*227_*229dup, NM_002653.5:c.*226_*229dup, NM_002653.5:c.*225_*229dup, NM_002653.5:c.*224_*229dup, NM_002653.5:c.*223_*229dup, NM_002653.5:c.*222_*229dup, NM_002653.5:c.*221_*229dup, NM_002653.5:c.*220_*229dup, NM_002653.5:c.*219_*229dup, NM_002653.5:c.*218_*229dup, NM_002653.5:c.*217_*229dup, NM_002653.5:c.*216_*229dup, NM_002653.5:c.*215_*229dup, NM_002653.5:c.*213_*229dup, NM_002653.4:c.*214_*229del, NM_002653.4:c.*216_*229del, NM_002653.4:c.*217_*229del, NM_002653.4:c.*218_*229del, NM_002653.4:c.*219_*229del, NM_002653.4:c.*220_*229del, NM_002653.4:c.*221_*229del, NM_002653.4:c.*222_*229del, NM_002653.4:c.*223_*229del, NM_002653.4:c.*224_*229del, NM_002653.4:c.*225_*229del, NM_002653.4:c.*226_*229del, NM_002653.4:c.*227_*229del, NM_002653.4:c.*228_*229del, NM_002653.4:c.*229del, NM_002653.4:c.*229dup, NM_002653.4:c.*228_*229dup, NM_002653.4:c.*227_*229dup, NM_002653.4:c.*226_*229dup, NM_002653.4:c.*225_*229dup, NM_002653.4:c.*224_*229dup, NM_002653.4:c.*223_*229dup, NM_002653.4:c.*222_*229dup, NM_002653.4:c.*221_*229dup, NM_002653.4:c.*220_*229dup, NM_002653.4:c.*219_*229dup, NM_002653.4:c.*218_*229dup, NM_002653.4:c.*217_*229dup, NM_002653.4:c.*216_*229dup, NM_002653.4:c.*215_*229dup, NM_002653.4:c.*213_*229dup, XM_047417318.1:c.*214_*229del, XM_047417318.1:c.*216_*229del, XM_047417318.1:c.*217_*229del, XM_047417318.1:c.*218_*229del, XM_047417318.1:c.*219_*229del, XM_047417318.1:c.*220_*229del, XM_047417318.1:c.*221_*229del, XM_047417318.1:c.*222_*229del, XM_047417318.1:c.*223_*229del, XM_047417318.1:c.*224_*229del, XM_047417318.1:c.*225_*229del, XM_047417318.1:c.*226_*229del, XM_047417318.1:c.*227_*229del, XM_047417318.1:c.*228_*229del, XM_047417318.1:c.*229del, XM_047417318.1:c.*229dup, XM_047417318.1:c.*228_*229dup, XM_047417318.1:c.*227_*229dup, XM_047417318.1:c.*226_*229dup, XM_047417318.1:c.*225_*229dup, XM_047417318.1:c.*224_*229dup, XM_047417318.1:c.*223_*229dup, XM_047417318.1:c.*222_*229dup, XM_047417318.1:c.*221_*229dup, XM_047417318.1:c.*220_*229dup, XM_047417318.1:c.*219_*229dup, XM_047417318.1:c.*218_*229dup, XM_047417318.1:c.*217_*229dup, XM_047417318.1:c.*216_*229dup, XM_047417318.1:c.*215_*229dup, XM_047417318.1:c.*213_*229dup, XM_047417319.1:c.*214_*229del, XM_047417319.1:c.*216_*229del, XM_047417319.1:c.*217_*229del, XM_047417319.1:c.*218_*229del, XM_047417319.1:c.*219_*229del, XM_047417319.1:c.*220_*229del, XM_047417319.1:c.*221_*229del, XM_047417319.1:c.*222_*229del, XM_047417319.1:c.*223_*229del, XM_047417319.1:c.*224_*229del, XM_047417319.1:c.*225_*229del, XM_047417319.1:c.*226_*229del, XM_047417319.1:c.*227_*229del, XM_047417319.1:c.*228_*229del, XM_047417319.1:c.*229del, XM_047417319.1:c.*229dup, XM_047417319.1:c.*228_*229dup, XM_047417319.1:c.*227_*229dup, XM_047417319.1:c.*226_*229dup, XM_047417319.1:c.*225_*229dup, XM_047417319.1:c.*224_*229dup, XM_047417319.1:c.*223_*229dup, XM_047417319.1:c.*222_*229dup, XM_047417319.1:c.*221_*229dup, XM_047417319.1:c.*220_*229dup, XM_047417319.1:c.*219_*229dup, XM_047417319.1:c.*218_*229dup, XM_047417319.1:c.*217_*229dup, XM_047417319.1:c.*216_*229dup, XM_047417319.1:c.*215_*229dup, XM_047417319.1:c.*213_*229dup

Select item 14912195762.

rs1491219576 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:135028549 (GRCh38)
5:134364239 (GRCh37)
Canonical SPDI:: NC_000005.10:135028548:CT:
Gene:: PITX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00027/26 (GnomAD)
HGVS:: NC_000005.10:g.135028549_135028550del, NC_000005.9:g.134364239_134364240del, NG_012114.1:g.10725_10726del, NM_002653.5:c.*229_*230del, NM_002653.4:c.*229_*230del, XM_047417318.1:c.*229_*230del, XM_047417319.1:c.*229_*230del

Select item 14909306073.

rs1490930607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135030945 (GRCh38)
5:134366635 (GRCh37)
Canonical SPDI:: NC_000005.10:135030944:C:T
Gene:: PITX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.135030945C>T, NC_000005.9:g.134366635C>T, NG_012114.1:g.8330G>A

Select item 14895782104.

rs1489578210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135033245 (GRCh38)
5:134368935 (GRCh37)
Canonical SPDI:: NC_000005.10:135033244:C:T
Gene:: PITX1 (Varview), PITX1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.135033245C>T, NC_000005.9:g.134368935C>T, NG_012114.1:g.6030G>A

Select item 14895533095.

rs1489553309 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:135029607 (GRCh38)
5:134365297 (GRCh37)
Canonical SPDI:: NC_000005.10:135029601:CTCTCTC:CTCTC
Gene:: PITX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.135029603TC[2], NC_000005.9:g.134365293TC[2], NG_012114.1:g.9668AG[2]

Select item 14890770376.

rs1489077037 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCT [Show Flanks]
Chromosome:: 5:135031409 (GRCh38)
5:134367100 (GRCh37)
Canonical SPDI:: NC_000005.10:135031409:GCTGCT:GCTGCTGCT
Gene:: PITX1 (Varview), PITX1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,inframe_insertion,2KB_upstream_variant
Validated:: by frequency
MAF:: GCT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135031410GCT[3], NC_000005.9:g.134367100GCT[3], NG_012114.1:g.7860AGC[3], NM_002653.5:c.263AGC[3], NM_002653.4:c.263AGC[3], XM_047417318.1:c.365AGC[3], XM_047417319.1:c.-83AGC[3], NP_002644.4:p.Gln89dup, XP_047273274.1:p.Gln123dup

Select item 14890139907.

rs1489013990 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:135036043 (GRCh38)
5:134371733 (GRCh37)
Canonical SPDI:: NC_000005.10:135036042:T:G
Gene:: PITX1 (Varview), PITX1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.135036043T>G, NC_000005.9:g.134371733T>G, NG_012114.1:g.3232A>C

Select item 14888642088.

rs1488864208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:135027479 (GRCh38)
5:134363169 (GRCh37)
Canonical SPDI:: NC_000005.10:135027478:G:C
Gene:: PITX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.135027479G>C, NC_000005.9:g.134363169G>C, NG_012114.1:g.11796C>G

Select item 14887490049.

rs1488749004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135029241 (GRCh38)
5:134364931 (GRCh37)
Canonical SPDI:: NC_000005.10:135029240:C:T
Gene:: PITX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.135029241C>T, NC_000005.9:g.134364931C>T, NG_012114.1:g.10034G>A, NM_002653.5:c.483G>A, NM_002653.4:c.483G>A, XM_047417318.1:c.585G>A, XM_047417319.1:c.138G>A

Select item 148815606310.

rs1488156063 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135027614 (GRCh38)
5:134363304 (GRCh37)
Canonical SPDI:: NC_000005.10:135027613:C:T
Gene:: PITX1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.135027614C>T, NC_000005.9:g.134363304C>T, NG_012114.1:g.11661G>A

Select item 148792166211.

rs1487921662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:135030095 (GRCh38)
5:134365785 (GRCh37)
Canonical SPDI:: NC_000005.10:135030094:A:G,NC_000005.10:135030094:A:T
Gene:: PITX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.135030095A>G, NC_000005.10:g.135030095A>T, NC_000005.9:g.134365785A>G, NC_000005.9:g.134365785A>T, NG_012114.1:g.9180T>C, NG_012114.1:g.9180T>A

Select item 148781672212.

rs1487816722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:135028664 (GRCh38)
5:134364354 (GRCh37)
Canonical SPDI:: NC_000005.10:135028663:G:A
Gene:: PITX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.135028664G>A, NC_000005.9:g.134364354G>A, NG_012114.1:g.10611C>T, NM_002653.5:c.*115C>T, NM_002653.4:c.*115C>T, XM_047417318.1:c.*115C>T, XM_047417319.1:c.*115C>T

Select item 148778554513.

rs1487785545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:135030931 (GRCh38)
5:134366621 (GRCh37)
Canonical SPDI:: NC_000005.10:135030930:T:A
Gene:: PITX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.135030931T>A, NC_000005.9:g.134366621T>A, NG_012114.1:g.8344A>T

Select item 148772555714.

rs1487725557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135028441 (GRCh38)
5:134364131 (GRCh37)
Canonical SPDI:: NC_000005.10:135028440:C:T
Gene:: PITX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.135028441C>T, NC_000005.9:g.134364131C>T, NG_012114.1:g.10834G>A, NM_002653.5:c.*338G>A, NM_002653.4:c.*338G>A, XM_047417318.1:c.*338G>A, XM_047417319.1:c.*338G>A

Select item 148752209215.

rs1487522092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135031577 (GRCh38)
5:134367267 (GRCh37)
Canonical SPDI:: NC_000005.10:135031576:C:T
Gene:: PITX1 (Varview), PITX1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/15 (TOPMED)
T=0.000107/15 (GnomAD)
HGVS:: NC_000005.10:g.135031577C>T, NC_000005.9:g.134367267C>T, NG_012114.1:g.7698G>A

Select item 148716315816.

rs1487163158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:135029745 (GRCh38)
5:134365435 (GRCh37)
Canonical SPDI:: NC_000005.10:135029744:C:T
Gene:: PITX1 (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)
HGVS:: NC_000005.10:g.135029745C>T, NC_000005.9:g.134365435C>T, NG_012114.1:g.9530G>A

Select item 148711471817.

rs1487114718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:135028874 (GRCh38)
5:134364564 (GRCh37)
Canonical SPDI:: NC_000005.10:135028873:T:G
Gene:: PITX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.135028874T>G, NC_000005.9:g.134364564T>G, NG_012114.1:g.10401A>C, NM_002653.5:c.850A>C, NM_002653.4:c.850A>C, XM_047417318.1:c.952A>C, XM_047417319.1:c.505A>C, NP_002644.4:p.Ser284Arg, XP_047273274.1:p.Ser318Arg, XP_047273275.1:p.Ser169Arg

Select item 148661835418.

rs1486618354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:135033810 (GRCh38)
5:134369500 (GRCh37)
Canonical SPDI:: NC_000005.10:135033809:G:C
Gene:: PITX1 (Varview), PITX1-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.135033810G>C, NC_000005.9:g.134369500G>C, NG_012114.1:g.5465C>G, NM_002653.5:c.72C>G, NM_002653.4:c.72C>G, XM_047417318.1:c.174C>G

Select item 148657113119.

rs1486571131 has merged into rs70976562 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:135028558 (GRCh38)
5:134364248 (GRCh37)
Canonical SPDI:: NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:135028549:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PITX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.135028558_135028573del, NC_000005.10:g.135028560_135028573del, NC_000005.10:g.135028561_135028573del, NC_000005.10:g.135028562_135028573del, NC_000005.10:g.135028563_135028573del, NC_000005.10:g.135028564_135028573del, NC_000005.10:g.135028565_135028573del, NC_000005.10:g.135028566_135028573del, NC_000005.10:g.135028567_135028573del, NC_000005.10:g.135028568_135028573del, NC_000005.10:g.135028569_135028573del, NC_000005.10:g.135028570_135028573del, NC_000005.10:g.135028571_135028573del, NC_000005.10:g.135028572_135028573del, NC_000005.10:g.135028573del, NC_000005.10:g.135028573dup, NC_000005.10:g.135028572_135028573dup, NC_000005.10:g.135028571_135028573dup, NC_000005.10:g.135028570_135028573dup, NC_000005.10:g.135028569_135028573dup, NC_000005.10:g.135028568_135028573dup, NC_000005.10:g.135028567_135028573dup, NC_000005.10:g.135028566_135028573dup, NC_000005.10:g.135028565_135028573dup, NC_000005.10:g.135028564_135028573dup, NC_000005.10:g.135028563_135028573dup, NC_000005.10:g.135028562_135028573dup, NC_000005.10:g.135028561_135028573dup, NC_000005.10:g.135028560_135028573dup, NC_000005.10:g.135028559_135028573dup, NC_000005.10:g.135028557_135028573dup, NC_000005.9:g.134364248_134364263del, NC_000005.9:g.134364250_134364263del, NC_000005.9:g.134364251_134364263del, NC_000005.9:g.134364252_134364263del, NC_000005.9:g.134364253_134364263del, NC_000005.9:g.134364254_134364263del, NC_000005.9:g.134364255_134364263del, NC_000005.9:g.134364256_134364263del, NC_000005.9:g.134364257_134364263del, NC_000005.9:g.134364258_134364263del, NC_000005.9:g.134364259_134364263del, NC_000005.9:g.134364260_134364263del, NC_000005.9:g.134364261_134364263del, NC_000005.9:g.134364262_134364263del, NC_000005.9:g.134364263del, NC_000005.9:g.134364263dup, NC_000005.9:g.134364262_134364263dup, NC_000005.9:g.134364261_134364263dup, NC_000005.9:g.134364260_134364263dup, NC_000005.9:g.134364259_134364263dup, NC_000005.9:g.134364258_134364263dup, NC_000005.9:g.134364257_134364263dup, NC_000005.9:g.134364256_134364263dup, NC_000005.9:g.134364255_134364263dup, NC_000005.9:g.134364254_134364263dup, NC_000005.9:g.134364253_134364263dup, NC_000005.9:g.134364252_134364263dup, NC_000005.9:g.134364251_134364263dup, NC_000005.9:g.134364250_134364263dup, NC_000005.9:g.134364249_134364263dup, NC_000005.9:g.134364247_134364263dup, NG_012114.1:g.10710_10725del, NG_012114.1:g.10712_10725del, NG_012114.1:g.10713_10725del, NG_012114.1:g.10714_10725del, NG_012114.1:g.10715_10725del, NG_012114.1:g.10716_10725del, NG_012114.1:g.10717_10725del, NG_012114.1:g.10718_10725del, NG_012114.1:g.10719_10725del, NG_012114.1:g.10720_10725del, NG_012114.1:g.10721_10725del, NG_012114.1:g.10722_10725del, NG_012114.1:g.10723_10725del, NG_012114.1:g.10724_10725del, NG_012114.1:g.10725del, NG_012114.1:g.10725dup, NG_012114.1:g.10724_10725dup, NG_012114.1:g.10723_10725dup, NG_012114.1:g.10722_10725dup, NG_012114.1:g.10721_10725dup, NG_012114.1:g.10720_10725dup, NG_012114.1:g.10719_10725dup, NG_012114.1:g.10718_10725dup, NG_012114.1:g.10717_10725dup, NG_012114.1:g.10716_10725dup, NG_012114.1:g.10715_10725dup, NG_012114.1:g.10714_10725dup, NG_012114.1:g.10713_10725dup, NG_012114.1:g.10712_10725dup, NG_012114.1:g.10711_10725dup, NG_012114.1:g.10709_10725dup, NM_002653.5:c.*214_*229del, NM_002653.5:c.*216_*229del, NM_002653.5:c.*217_*229del, NM_002653.5:c.*218_*229del, NM_002653.5:c.*219_*229del, NM_002653.5:c.*220_*229del, NM_002653.5:c.*221_*229del, NM_002653.5:c.*222_*229del, NM_002653.5:c.*223_*229del, NM_002653.5:c.*224_*229del, NM_002653.5:c.*225_*229del, NM_002653.5:c.*226_*229del, NM_002653.5:c.*227_*229del, NM_002653.5:c.*228_*229del, NM_002653.5:c.*229del, NM_002653.5:c.*229dup, NM_002653.5:c.*228_*229dup, NM_002653.5:c.*227_*229dup, NM_002653.5:c.*226_*229dup, NM_002653.5:c.*225_*229dup, NM_002653.5:c.*224_*229dup, NM_002653.5:c.*223_*229dup, NM_002653.5:c.*222_*229dup, NM_002653.5:c.*221_*229dup, NM_002653.5:c.*220_*229dup, NM_002653.5:c.*219_*229dup, NM_002653.5:c.*218_*229dup, NM_002653.5:c.*217_*229dup, NM_002653.5:c.*216_*229dup, NM_002653.5:c.*215_*229dup, NM_002653.5:c.*213_*229dup, NM_002653.4:c.*214_*229del, NM_002653.4:c.*216_*229del, NM_002653.4:c.*217_*229del, NM_002653.4:c.*218_*229del, NM_002653.4:c.*219_*229del, NM_002653.4:c.*220_*229del, NM_002653.4:c.*221_*229del, NM_002653.4:c.*222_*229del, NM_002653.4:c.*223_*229del, NM_002653.4:c.*224_*229del, NM_002653.4:c.*225_*229del, NM_002653.4:c.*226_*229del, NM_002653.4:c.*227_*229del, NM_002653.4:c.*228_*229del, NM_002653.4:c.*229del, NM_002653.4:c.*229dup, NM_002653.4:c.*228_*229dup, NM_002653.4:c.*227_*229dup, NM_002653.4:c.*226_*229dup, NM_002653.4:c.*225_*229dup, NM_002653.4:c.*224_*229dup, NM_002653.4:c.*223_*229dup, NM_002653.4:c.*222_*229dup, NM_002653.4:c.*221_*229dup, NM_002653.4:c.*220_*229dup, NM_002653.4:c.*219_*229dup, NM_002653.4:c.*218_*229dup, NM_002653.4:c.*217_*229dup, NM_002653.4:c.*216_*229dup, NM_002653.4:c.*215_*229dup, NM_002653.4:c.*213_*229dup, XM_047417318.1:c.*214_*229del, XM_047417318.1:c.*216_*229del, XM_047417318.1:c.*217_*229del, XM_047417318.1:c.*218_*229del, XM_047417318.1:c.*219_*229del, XM_047417318.1:c.*220_*229del, XM_047417318.1:c.*221_*229del, XM_047417318.1:c.*222_*229del, XM_047417318.1:c.*223_*229del, XM_047417318.1:c.*224_*229del, XM_047417318.1:c.*225_*229del, XM_047417318.1:c.*226_*229del, XM_047417318.1:c.*227_*229del, XM_047417318.1:c.*228_*229del, XM_047417318.1:c.*229del, XM_047417318.1:c.*229dup, XM_047417318.1:c.*228_*229dup, XM_047417318.1:c.*227_*229dup, XM_047417318.1:c.*226_*229dup, XM_047417318.1:c.*225_*229dup, XM_047417318.1:c.*224_*229dup, XM_047417318.1:c.*223_*229dup, XM_047417318.1:c.*222_*229dup, XM_047417318.1:c.*221_*229dup, XM_047417318.1:c.*220_*229dup, XM_047417318.1:c.*219_*229dup, XM_047417318.1:c.*218_*229dup, XM_047417318.1:c.*217_*229dup, XM_047417318.1:c.*216_*229dup, XM_047417318.1:c.*215_*229dup, XM_047417318.1:c.*213_*229dup, XM_047417319.1:c.*214_*229del, XM_047417319.1:c.*216_*229del, XM_047417319.1:c.*217_*229del, XM_047417319.1:c.*218_*229del, XM_047417319.1:c.*219_*229del, XM_047417319.1:c.*220_*229del, XM_047417319.1:c.*221_*229del, XM_047417319.1:c.*222_*229del, XM_047417319.1:c.*223_*229del, XM_047417319.1:c.*224_*229del, XM_047417319.1:c.*225_*229del, XM_047417319.1:c.*226_*229del, XM_047417319.1:c.*227_*229del, XM_047417319.1:c.*228_*229del, XM_047417319.1:c.*229del, XM_047417319.1:c.*229dup, XM_047417319.1:c.*228_*229dup, XM_047417319.1:c.*227_*229dup, XM_047417319.1:c.*226_*229dup, XM_047417319.1:c.*225_*229dup, XM_047417319.1:c.*224_*229dup, XM_047417319.1:c.*223_*229dup, XM_047417319.1:c.*222_*229dup, XM_047417319.1:c.*221_*229dup, XM_047417319.1:c.*220_*229dup, XM_047417319.1:c.*219_*229dup, XM_047417319.1:c.*218_*229dup, XM_047417319.1:c.*217_*229dup, XM_047417319.1:c.*216_*229dup, XM_047417319.1:c.*215_*229dup, XM_047417319.1:c.*213_*229dup

Select item 148635174420.

rs1486351744 [Homo sapiens]

Variant type:: DEL
Alleles:: GCTC>- [Show Flanks]
Chromosome:: 5:135028122 (GRCh38)
5:134363812 (GRCh37)
Canonical SPDI:: NC_000005.10:135028121:GCTC:
Gene:: PITX1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.135028122_135028125del, NC_000005.9:g.134363812_134363815del, NG_012114.1:g.11150_11153del, NM_002653.5:c.*654_*657del, NM_002653.4:c.*654_*657del, XM_047417318.1:c.*654_*657del, XM_047417319.1:c.*654_*657del

<< First< Prev

Page of 132

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2638

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity