SNP Links for Gene (Select 93210) - SNP

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Select item 14910558791.

rs1491055879 has merged into rs776023876 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCCCC [Show Flanks]
Chromosome:: 17:39675046 (GRCh38)
17:37831299 (GRCh37)
Canonical SPDI:: NC_000017.11:39675043:CCCC:CC,NC_000017.11:39675043:CCCC:CCC,NC_000017.11:39675043:CCCC:CCCCCCC
Gene:: PGAP3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.39675046_39675047del, NC_000017.11:g.39675047del, NC_000017.11:g.39675045_39675047dup, NC_000017.10:g.37831299_37831300del, NC_000017.10:g.37831300del, NC_000017.10:g.37831298_37831300dup, NG_034125.1:g.18026_18027del, NG_034125.1:g.18027del, NG_034125.1:g.18025_18027dup, NG_054059.1:g.276_277del, NG_054059.1:g.277del, NG_054059.1:g.275_277dup

Select item 14910091562.

rs1491009156 has merged into rs35388872 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:39685496 (GRCh38)
17:37841749 (GRCh37)
Canonical SPDI:: NC_000017.11:39685491:AAAAAAAAAAA:AAAA,NC_000017.11:39685491:AAAAAAAAAAA:AAAAAAAAA,NC_000017.11:39685491:AAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:39685491:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:39685491:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:39685491:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:39685491:AAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:39685491:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: PGAP3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.225/9 (GENOME_DK)
A=0.25619/1283 (1000Genomes)
A=0.27018/154 (NorthernSweden)
A=0.30962/309 (GoNL)
A=0.33819/1254 (TWINSUK)
A=0.3521/1357 (ALSPAC)
HGVS:: NC_000017.11:g.39685496_39685502del, NC_000017.11:g.39685501_39685502del, NC_000017.11:g.39685502del, NC_000017.11:g.39685502dup, NC_000017.11:g.39685501_39685502dup, NC_000017.11:g.39685500_39685502dup, NC_000017.11:g.39685499_39685502dup, NC_000017.11:g.39685494_39685502dup, NC_000017.10:g.37841749_37841755del, NC_000017.10:g.37841754_37841755del, NC_000017.10:g.37841755del, NC_000017.10:g.37841755dup, NC_000017.10:g.37841754_37841755dup, NC_000017.10:g.37841753_37841755dup, NC_000017.10:g.37841752_37841755dup, NC_000017.10:g.37841747_37841755dup, NG_007503.1:g.2357_2363del, NG_007503.1:g.2362_2363del, NG_007503.1:g.2363del, NG_007503.1:g.2363dup, NG_007503.1:g.2362_2363dup, NG_007503.1:g.2361_2363dup, NG_007503.1:g.2360_2363dup, NG_007503.1:g.2355_2363dup, NG_034125.1:g.7573_7579del, NG_034125.1:g.7578_7579del, NG_034125.1:g.7579del, NG_034125.1:g.7579dup, NG_034125.1:g.7578_7579dup, NG_034125.1:g.7577_7579dup, NG_034125.1:g.7576_7579dup, NG_034125.1:g.7571_7579dup

Select item 14910077123.

rs1491007712 has merged into rs35277523 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:39686565 (GRCh38)
17:37842818 (GRCh37)
Canonical SPDI:: NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:39686555:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ERBB2 (Varview), PGAP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.0454/175 (ALSPAC)
-=0.0615/228 (TWINSUK)
HGVS:: NC_000017.11:g.39686565_39686577del, NC_000017.11:g.39686566_39686577del, NC_000017.11:g.39686567_39686577del, NC_000017.11:g.39686569_39686577del, NC_000017.11:g.39686570_39686577del, NC_000017.11:g.39686571_39686577del, NC_000017.11:g.39686574_39686577del, NC_000017.11:g.39686575_39686577del, NC_000017.11:g.39686576_39686577del, NC_000017.11:g.39686577del, NC_000017.11:g.39686577dup, NC_000017.11:g.39686576_39686577dup, NC_000017.11:g.39686575_39686577dup, NC_000017.11:g.39686574_39686577dup, NC_000017.11:g.39686573_39686577dup, NC_000017.11:g.39686571_39686577dup, NC_000017.11:g.39686570_39686577dup, NC_000017.11:g.39686569_39686577dup, NC_000017.10:g.37842818_37842830del, NC_000017.10:g.37842819_37842830del, NC_000017.10:g.37842820_37842830del, NC_000017.10:g.37842822_37842830del, NC_000017.10:g.37842823_37842830del, NC_000017.10:g.37842824_37842830del, NC_000017.10:g.37842827_37842830del, NC_000017.10:g.37842828_37842830del, NC_000017.10:g.37842829_37842830del, NC_000017.10:g.37842830del, NC_000017.10:g.37842830dup, NC_000017.10:g.37842829_37842830dup, NC_000017.10:g.37842828_37842830dup, NC_000017.10:g.37842827_37842830dup, NC_000017.10:g.37842826_37842830dup, NC_000017.10:g.37842824_37842830dup, NC_000017.10:g.37842823_37842830dup, NC_000017.10:g.37842822_37842830dup, NG_007503.1:g.3426_3438del, NG_007503.1:g.3427_3438del, NG_007503.1:g.3428_3438del, NG_007503.1:g.3430_3438del, NG_007503.1:g.3431_3438del, NG_007503.1:g.3432_3438del, NG_007503.1:g.3435_3438del, NG_007503.1:g.3436_3438del, NG_007503.1:g.3437_3438del, NG_007503.1:g.3438del, NG_007503.1:g.3438dup, NG_007503.1:g.3437_3438dup, NG_007503.1:g.3436_3438dup, NG_007503.1:g.3435_3438dup, NG_007503.1:g.3434_3438dup, NG_007503.1:g.3432_3438dup, NG_007503.1:g.3431_3438dup, NG_007503.1:g.3430_3438dup, NG_034125.1:g.6503_6515del, NG_034125.1:g.6504_6515del, NG_034125.1:g.6505_6515del, NG_034125.1:g.6507_6515del, NG_034125.1:g.6508_6515del, NG_034125.1:g.6509_6515del, NG_034125.1:g.6512_6515del, NG_034125.1:g.6513_6515del, NG_034125.1:g.6514_6515del, NG_034125.1:g.6515del, NG_034125.1:g.6515dup, NG_034125.1:g.6514_6515dup, NG_034125.1:g.6513_6515dup, NG_034125.1:g.6512_6515dup, NG_034125.1:g.6511_6515dup, NG_034125.1:g.6509_6515dup, NG_034125.1:g.6508_6515dup, NG_034125.1:g.6507_6515dup

Select item 14908529304.

rs1490852930 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 17:39676604 (GRCh38)
17:37832857 (GRCh37)
Canonical SPDI:: NC_000017.11:39676600:CTCCTC:CTC
Gene:: PGAP3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39676601CTC[1], NC_000017.10:g.37832854CTC[1], NG_034125.1:g.16465GAG[1], NG_054059.1:g.1831CTC[1]

Select item 14906470815.

rs1490647081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:39682294 (GRCh38)
17:37838547 (GRCh37)
Canonical SPDI:: NC_000017.11:39682293:G:T
Gene:: PGAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
T=0.01951/57 (KOREAN)
HGVS:: NC_000017.11:g.39682294G>T, NC_000017.10:g.37838547G>T, NG_034125.1:g.10777C>A

Select item 14904770196.

rs1490477019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39685692 (GRCh38)
17:37841945 (GRCh37)
Canonical SPDI:: NC_000017.11:39685691:T:C
Gene:: PGAP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39685692T>C, NC_000017.10:g.37841945T>C, NG_007503.1:g.2553T>C, NG_034125.1:g.7379A>G

Select item 14902733857.

rs1490273385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39684187 (GRCh38)
17:37840440 (GRCh37)
Canonical SPDI:: NC_000017.11:39684186:G:A
Gene:: PGAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.39684187G>A, NC_000017.10:g.37840440G>A, NG_007503.1:g.1048G>A, NG_034125.1:g.8884C>T

Select item 14894335278.

rs1489433527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39687963 (GRCh38)
17:37844216 (GRCh37)
Canonical SPDI:: NC_000017.11:39687962:C:T
Gene:: ERBB2 (Varview), PGAP3 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39687963C>T, NC_000017.10:g.37844216C>T, NG_007503.1:g.4824C>T, NG_034125.1:g.5108G>A, NM_033419.5:c.52G>A, NM_033419.4:c.52G>A, NM_033419.3:c.52G>A, NM_001291728.2:c.52G>A, NM_001291728.1:c.52G>A, NM_001291726.2:c.52G>A, NM_001291726.1:c.52G>A, NM_001291730.2:c.52G>A, NM_001291730.1:c.52G>A, NM_001291732.2:c.52G>A, NM_001291732.1:c.52G>A, NM_001291733.2:c.52G>A, NM_001291733.1:c.52G>A, XM_011525480.2:c.52G>A, XM_011525480.1:c.52G>A, XM_047437083.1:c.52G>A, NP_219487.3:p.Ala18Thr, NP_001278657.1:p.Ala18Thr, NP_001278655.1:p.Ala18Thr, NP_001278659.1:p.Ala18Thr, NP_001278661.1:p.Ala18Thr, NP_001278662.1:p.Ala18Thr, XP_011523782.1:p.Ala18Thr, XP_047293039.1:p.Ala18Thr

Select item 14893894399.

rs1489389439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:39685555 (GRCh38)
17:37841808 (GRCh37)
Canonical SPDI:: NC_000017.11:39685554:G:C
Gene:: PGAP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39685555G>C, NC_000017.10:g.37841808G>C, NG_007503.1:g.2416G>C, NG_034125.1:g.7516C>G

Select item 148924844010.

rs1489248440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:39684326 (GRCh38)
17:37840579 (GRCh37)
Canonical SPDI:: NC_000017.11:39684325:T:G
Gene:: PGAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39684326T>G, NC_000017.10:g.37840579T>G, NG_007503.1:g.1187T>G, NG_034125.1:g.8745A>C

Select item 148919689611.

rs1489196896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:39685314 (GRCh38)
17:37841567 (GRCh37)
Canonical SPDI:: NC_000017.11:39685313:T:A
Gene:: PGAP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.01782/52 (KOREAN)
HGVS:: NC_000017.11:g.39685314T>A, NC_000017.10:g.37841567T>A, NG_007503.1:g.2175T>A, NG_034125.1:g.7757A>T

Select item 148913249812.

rs1489132498 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:39681461 (GRCh38)
17:37837714 (GRCh37)
Canonical SPDI:: NC_000017.11:39681460:C:A,NC_000017.11:39681460:C:T
Gene:: PGAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39681461C>A, NC_000017.11:g.39681461C>T, NC_000017.10:g.37837714C>A, NC_000017.10:g.37837714C>T, NG_034125.1:g.11610G>T, NG_034125.1:g.11610G>A

Select item 148911440013.

rs1489114400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:39673773 (GRCh38)
17:37830026 (GRCh37)
Canonical SPDI:: NC_000017.11:39673772:C:A
Gene:: PGAP3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39673773C>A, NC_000017.10:g.37830026C>A, NG_034125.1:g.19298G>T

Select item 148911317114.

rs1489113171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:39684627 (GRCh38)
17:37840880 (GRCh37)
Canonical SPDI:: NC_000017.11:39684626:G:A,NC_000017.11:39684626:G:C
Gene:: PGAP3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000546/1 (Korea1K)
A=0.000684/2 (KOREAN)
HGVS:: NC_000017.11:g.39684627G>A, NC_000017.11:g.39684627G>C, NC_000017.10:g.37840880G>A, NC_000017.10:g.37840880G>C, NG_007503.1:g.1488G>A, NG_007503.1:g.1488G>C, NG_034125.1:g.8444C>T, NG_034125.1:g.8444C>G, NM_033419.5:c.402C>T, NM_033419.5:c.402C>G, NM_033419.4:c.402C>T, NM_033419.4:c.402C>G, NM_033419.3:c.402C>T, NM_033419.3:c.402C>G, NM_001291728.2:c.402C>T, NM_001291728.2:c.402C>G, NM_001291728.1:c.402C>T, NM_001291728.1:c.402C>G, NM_001291730.2:c.402C>T, NM_001291730.2:c.402C>G, NM_001291730.1:c.402C>T, NM_001291730.1:c.402C>G, NM_001291732.2:c.402C>T, NM_001291732.2:c.402C>G, NM_001291732.1:c.402C>T, NM_001291732.1:c.402C>G, NM_001291733.2:c.402C>T, NM_001291733.2:c.402C>G, NM_001291733.1:c.402C>T, NM_001291733.1:c.402C>G, XM_011525480.2:c.402C>T, XM_011525480.2:c.402C>G, XM_011525480.1:c.402C>T, XM_011525480.1:c.402C>G, XM_047437082.1:c.-86C>T, XM_047437082.1:c.-86C>G, XM_047437083.1:c.402C>T, XM_047437083.1:c.402C>G

Select item 148901062815.

rs1489010628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39674588 (GRCh38)
17:37830841 (GRCh37)
Canonical SPDI:: NC_000017.11:39674587:G:A
Gene:: PGAP3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000032/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39674588G>A, NC_000017.10:g.37830841G>A, NG_034125.1:g.18483C>T

Select item 148885650016.

rs1488856500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:39680438 (GRCh38)
17:37836691 (GRCh37)
Canonical SPDI:: NC_000017.11:39680437:G:C
Gene:: PGAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.39680438G>C, NC_000017.10:g.37836691G>C, NG_034125.1:g.12633C>G

Select item 148873293317.

rs1488732933 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 17:39677165 (GRCh38)
17:37833418 (GRCh37)
Canonical SPDI:: NC_000017.11:39677164:A:
Gene:: PGAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.39677165del, NC_000017.10:g.37833418del, NG_034125.1:g.15906del, NG_054059.1:g.2395del

Select item 148865640718.

rs1488656407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39683597 (GRCh38)
17:37839850 (GRCh37)
Canonical SPDI:: NC_000017.11:39683596:T:C
Gene:: PGAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39683597T>C, NC_000017.10:g.37839850T>C, NG_007503.1:g.458T>C, NG_034125.1:g.9474A>G

Select item 148847899119.

rs1488478991 has merged into rs60959390 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:39682240 (GRCh38)
17:37838493 (GRCh37)
Canonical SPDI:: NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:39682225:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PGAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.39682240_39682261del, NC_000017.11:g.39682241_39682261del, NC_000017.11:g.39682242_39682261del, NC_000017.11:g.39682243_39682261del, NC_000017.11:g.39682244_39682261del, NC_000017.11:g.39682245_39682261del, NC_000017.11:g.39682246_39682261del, NC_000017.11:g.39682247_39682261del, NC_000017.11:g.39682248_39682261del, NC_000017.11:g.39682249_39682261del, NC_000017.11:g.39682250_39682261del, NC_000017.11:g.39682251_39682261del, NC_000017.11:g.39682252_39682261del, NC_000017.11:g.39682253_39682261del, NC_000017.11:g.39682254_39682261del, NC_000017.11:g.39682255_39682261del, NC_000017.11:g.39682256_39682261del, NC_000017.11:g.39682257_39682261del, NC_000017.11:g.39682258_39682261del, NC_000017.11:g.39682259_39682261del, NC_000017.11:g.39682260_39682261del, NC_000017.11:g.39682261del, NC_000017.11:g.39682261dup, NC_000017.11:g.39682260_39682261dup, NC_000017.11:g.39682259_39682261dup, NC_000017.11:g.39682258_39682261dup, NC_000017.11:g.39682257_39682261dup, NC_000017.11:g.39682256_39682261dup, NC_000017.11:g.39682255_39682261dup, NC_000017.11:g.39682254_39682261dup, NC_000017.11:g.39682253_39682261dup, NC_000017.11:g.39682252_39682261dup, NC_000017.11:g.39682251_39682261dup, NC_000017.11:g.39682250_39682261dup, NC_000017.10:g.37838493_37838514del, NC_000017.10:g.37838494_37838514del, NC_000017.10:g.37838495_37838514del, NC_000017.10:g.37838496_37838514del, NC_000017.10:g.37838497_37838514del, NC_000017.10:g.37838498_37838514del, NC_000017.10:g.37838499_37838514del, NC_000017.10:g.37838500_37838514del, NC_000017.10:g.37838501_37838514del, NC_000017.10:g.37838502_37838514del, NC_000017.10:g.37838503_37838514del, NC_000017.10:g.37838504_37838514del, NC_000017.10:g.37838505_37838514del, NC_000017.10:g.37838506_37838514del, NC_000017.10:g.37838507_37838514del, NC_000017.10:g.37838508_37838514del, NC_000017.10:g.37838509_37838514del, NC_000017.10:g.37838510_37838514del, NC_000017.10:g.37838511_37838514del, NC_000017.10:g.37838512_37838514del, NC_000017.10:g.37838513_37838514del, NC_000017.10:g.37838514del, NC_000017.10:g.37838514dup, NC_000017.10:g.37838513_37838514dup, NC_000017.10:g.37838512_37838514dup, NC_000017.10:g.37838511_37838514dup, NC_000017.10:g.37838510_37838514dup, NC_000017.10:g.37838509_37838514dup, NC_000017.10:g.37838508_37838514dup, NC_000017.10:g.37838507_37838514dup, NC_000017.10:g.37838506_37838514dup, NC_000017.10:g.37838505_37838514dup, NC_000017.10:g.37838504_37838514dup, NC_000017.10:g.37838503_37838514dup, NG_034125.1:g.10824_10845del, NG_034125.1:g.10825_10845del, NG_034125.1:g.10826_10845del, NG_034125.1:g.10827_10845del, NG_034125.1:g.10828_10845del, NG_034125.1:g.10829_10845del, NG_034125.1:g.10830_10845del, NG_034125.1:g.10831_10845del, NG_034125.1:g.10832_10845del, NG_034125.1:g.10833_10845del, NG_034125.1:g.10834_10845del, NG_034125.1:g.10835_10845del, NG_034125.1:g.10836_10845del, NG_034125.1:g.10837_10845del, NG_034125.1:g.10838_10845del, NG_034125.1:g.10839_10845del, NG_034125.1:g.10840_10845del, NG_034125.1:g.10841_10845del, NG_034125.1:g.10842_10845del, NG_034125.1:g.10843_10845del, NG_034125.1:g.10844_10845del, NG_034125.1:g.10845del, NG_034125.1:g.10845dup, NG_034125.1:g.10844_10845dup, NG_034125.1:g.10843_10845dup, NG_034125.1:g.10842_10845dup, NG_034125.1:g.10841_10845dup, NG_034125.1:g.10840_10845dup, NG_034125.1:g.10839_10845dup, NG_034125.1:g.10838_10845dup, NG_034125.1:g.10837_10845dup, NG_034125.1:g.10836_10845dup, NG_034125.1:g.10835_10845dup, NG_034125.1:g.10834_10845dup

Select item 148808143420.

rs1488081434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39678061 (GRCh38)
17:37834314 (GRCh37)
Canonical SPDI:: NC_000017.11:39678060:G:A
Gene:: PGAP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39678061G>A, NC_000017.10:g.37834314G>A, NG_034125.1:g.15010C>T, NG_054059.1:g.3291G>A

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