SNP Links for Gene (Select 2498) - SNP

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Select item 14914416511.

rs1491441651 has merged into rs70953857 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:27392295 (GRCh38)
2:27615162 (GRCh37)
Canonical SPDI:: NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27392295_27392310del, NC_000002.12:g.27392299_27392310del, NC_000002.12:g.27392300_27392310del, NC_000002.12:g.27392301_27392310del, NC_000002.12:g.27392302_27392310del, NC_000002.12:g.27392303_27392310del, NC_000002.12:g.27392304_27392310del, NC_000002.12:g.27392305_27392310del, NC_000002.12:g.27392306_27392310del, NC_000002.12:g.27392307_27392310del, NC_000002.12:g.27392308_27392310del, NC_000002.12:g.27392309_27392310del, NC_000002.12:g.27392310del, NC_000002.12:g.27392310dup, NC_000002.12:g.27392309_27392310dup, NC_000002.12:g.27392308_27392310dup, NC_000002.12:g.27392307_27392310dup, NC_000002.12:g.27392306_27392310dup, NC_000002.12:g.27392305_27392310dup, NC_000002.12:g.27392304_27392310dup, NC_000002.12:g.27392303_27392310dup, NC_000002.12:g.27392302_27392310dup, NC_000002.12:g.27392301_27392310dup, NC_000002.12:g.27392300_27392310dup, NC_000002.12:g.27392299_27392310dup, NC_000002.12:g.27392298_27392310dup, NC_000002.12:g.27392297_27392310dup, NC_000002.12:g.27392296_27392310dup, NC_000002.12:g.27392295_27392310dup, NC_000002.12:g.27392294_27392310dup, NC_000002.12:g.27392293_27392310dup, NC_000002.12:g.27392290_27392310dup, NC_000002.12:g.27392310_27392311insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.27615162_27615177del, NC_000002.11:g.27615166_27615177del, NC_000002.11:g.27615167_27615177del, NC_000002.11:g.27615168_27615177del, NC_000002.11:g.27615169_27615177del, NC_000002.11:g.27615170_27615177del, NC_000002.11:g.27615171_27615177del, NC_000002.11:g.27615172_27615177del, NC_000002.11:g.27615173_27615177del, NC_000002.11:g.27615174_27615177del, NC_000002.11:g.27615175_27615177del, NC_000002.11:g.27615176_27615177del, NC_000002.11:g.27615177del, NC_000002.11:g.27615177dup, NC_000002.11:g.27615176_27615177dup, NC_000002.11:g.27615175_27615177dup, NC_000002.11:g.27615174_27615177dup, NC_000002.11:g.27615173_27615177dup, NC_000002.11:g.27615172_27615177dup, NC_000002.11:g.27615171_27615177dup, NC_000002.11:g.27615170_27615177dup, NC_000002.11:g.27615169_27615177dup, NC_000002.11:g.27615168_27615177dup, NC_000002.11:g.27615167_27615177dup, NC_000002.11:g.27615166_27615177dup, NC_000002.11:g.27615165_27615177dup, NC_000002.11:g.27615164_27615177dup, NC_000002.11:g.27615163_27615177dup, NC_000002.11:g.27615162_27615177dup, NC_000002.11:g.27615161_27615177dup, NC_000002.11:g.27615160_27615177dup, NC_000002.11:g.27615157_27615177dup, NC_000002.11:g.27615177_27615178insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913311502.

rs1491331150 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:27392611 (GRCh38)
2:27615478 (GRCh37)
Canonical SPDI:: NC_000002.12:27392610:TG:
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.27392611_27392612del, NC_000002.11:g.27615478_27615479del

Select item 14911613253.

rs1491161325 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTT [Show Flanks]
Chromosome:: 2:27392287 (GRCh38)
2:27615155 (GRCh37)
Canonical SPDI:: NC_000002.12:27392287:TTT:TTTGTTT
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTGTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.27392290_27392291insGTTT, NC_000002.11:g.27615157_27615158insGTTT

Select item 14907365294.

rs1490736529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27393136 (GRCh38)
2:27616003 (GRCh37)
Canonical SPDI:: NC_000002.12:27393135:C:T
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27393136C>T, NC_000002.11:g.27616003C>T, NR_002201.1:n.441G>A

Select item 14907264645.

rs1490726464 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27393363 (GRCh38)
2:27616230 (GRCh37)
Canonical SPDI:: NC_000002.12:27393362:G:A
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000049/13 (TOPMED)
A=0.000078/11 (GnomAD)
HGVS:: NC_000002.12:g.27393363G>A, NC_000002.11:g.27616230G>A, NR_002201.1:n.214C>T

Select item 14906858816.

rs1490685881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27393877 (GRCh38)
2:27616744 (GRCh37)
Canonical SPDI:: NC_000002.12:27393876:C:T
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27393877C>T, NC_000002.11:g.27616744C>T

Select item 14906343127.

rs1490634312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:27395213 (GRCh38)
2:27618080 (GRCh37)
Canonical SPDI:: NC_000002.12:27395212:G:A,NC_000002.12:27395212:G:C
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0016/7 (ALFA)
HGVS:: NC_000002.12:g.27395213G>A, NC_000002.12:g.27395213G>C, NC_000002.11:g.27618080G>A, NC_000002.11:g.27618080G>C

Select item 14902371708.

rs1490237170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:27394254 (GRCh38)
2:27617121 (GRCh37)
Canonical SPDI:: NC_000002.12:27394253:T:A
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.27394254T>A, NC_000002.11:g.27617121T>A

Select item 14901947509.

rs1490194750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27393516 (GRCh38)
2:27616383 (GRCh37)
Canonical SPDI:: NC_000002.12:27393515:C:T
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.27393516C>T, NC_000002.11:g.27616383C>T, NR_002201.1:n.61G>A

Select item 148844577910.

rs1488445779 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:27394482 (GRCh38)
2:27617349 (GRCh37)
Canonical SPDI:: NC_000002.12:27394481:CC:C
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27394483del, NC_000002.11:g.27617350del

Select item 148831179211.

rs1488311792 has merged into rs397868730 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:27394752 (GRCh38)
2:27617619 (GRCh37)
Canonical SPDI:: NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:27394741:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.4/16 (GENOME_DK)
HGVS:: NC_000002.12:g.27394752_27394764del, NC_000002.12:g.27394754_27394764del, NC_000002.12:g.27394757_27394764del, NC_000002.12:g.27394758_27394764del, NC_000002.12:g.27394759_27394764del, NC_000002.12:g.27394760_27394764del, NC_000002.12:g.27394761_27394764del, NC_000002.12:g.27394762_27394764del, NC_000002.12:g.27394763_27394764del, NC_000002.12:g.27394764del, NC_000002.12:g.27394764dup, NC_000002.12:g.27394763_27394764dup, NC_000002.12:g.27394762_27394764dup, NC_000002.12:g.27394761_27394764dup, NC_000002.12:g.27394760_27394764dup, NC_000002.12:g.27394764_27394765insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.27617619_27617631del, NC_000002.11:g.27617621_27617631del, NC_000002.11:g.27617624_27617631del, NC_000002.11:g.27617625_27617631del, NC_000002.11:g.27617626_27617631del, NC_000002.11:g.27617627_27617631del, NC_000002.11:g.27617628_27617631del, NC_000002.11:g.27617629_27617631del, NC_000002.11:g.27617630_27617631del, NC_000002.11:g.27617631del, NC_000002.11:g.27617631dup, NC_000002.11:g.27617630_27617631dup, NC_000002.11:g.27617629_27617631dup, NC_000002.11:g.27617628_27617631dup, NC_000002.11:g.27617627_27617631dup, NC_000002.11:g.27617631_27617632insAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148733242112.

rs1487332421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:27394273 (GRCh38)
2:27617140 (GRCh37)
Canonical SPDI:: NC_000002.12:27394272:C:A
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27394273C>A, NC_000002.11:g.27617140C>A

Select item 148722168113.

rs1487221681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:27394357 (GRCh38)
2:27617224 (GRCh37)
Canonical SPDI:: NC_000002.12:27394356:C:G,NC_000002.12:27394356:C:T
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.27394357C>G, NC_000002.12:g.27394357C>T, NC_000002.11:g.27617224C>G, NC_000002.11:g.27617224C>T

Select item 148504410814.

rs1485044108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:27395481 (GRCh38)
2:27618348 (GRCh37)
Canonical SPDI:: NC_000002.12:27395480:A:T
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27395481A>T, NC_000002.11:g.27618348A>T

Select item 148474334815.

rs1484743348 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:27392634 (GRCh38)
2:27615501 (GRCh37)
Canonical SPDI:: NC_000002.12:27392633:T:G
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000002.12:g.27392634T>G, NC_000002.11:g.27615501T>G, NR_002201.1:n.943A>C

Select item 148453010716.

rs1484530107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27392854 (GRCh38)
2:27615721 (GRCh37)
Canonical SPDI:: NC_000002.12:27392853:G:A
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27392854G>A, NC_000002.11:g.27615721G>A, NR_002201.1:n.723C>T

Select item 148425045317.

rs1484250453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:27392287 (GRCh38)
2:27615154 (GRCh37)
Canonical SPDI:: NC_000002.12:27392286:T:C,NC_000002.12:27392286:T:G
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27392287T>C, NC_000002.12:g.27392287T>G, NC_000002.11:g.27615154T>C, NC_000002.11:g.27615154T>G

Select item 148349492718.

rs1483494927 has merged into rs70953857 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,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,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:27392295 (GRCh38)
2:27615162 (GRCh37)
Canonical SPDI:: NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27392286:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27392295_27392310del, NC_000002.12:g.27392299_27392310del, NC_000002.12:g.27392300_27392310del, NC_000002.12:g.27392301_27392310del, NC_000002.12:g.27392302_27392310del, NC_000002.12:g.27392303_27392310del, NC_000002.12:g.27392304_27392310del, NC_000002.12:g.27392305_27392310del, NC_000002.12:g.27392306_27392310del, NC_000002.12:g.27392307_27392310del, NC_000002.12:g.27392308_27392310del, NC_000002.12:g.27392309_27392310del, NC_000002.12:g.27392310del, NC_000002.12:g.27392310dup, NC_000002.12:g.27392309_27392310dup, NC_000002.12:g.27392308_27392310dup, NC_000002.12:g.27392307_27392310dup, NC_000002.12:g.27392306_27392310dup, NC_000002.12:g.27392305_27392310dup, NC_000002.12:g.27392304_27392310dup, NC_000002.12:g.27392303_27392310dup, NC_000002.12:g.27392302_27392310dup, NC_000002.12:g.27392301_27392310dup, NC_000002.12:g.27392300_27392310dup, NC_000002.12:g.27392299_27392310dup, NC_000002.12:g.27392298_27392310dup, NC_000002.12:g.27392297_27392310dup, NC_000002.12:g.27392296_27392310dup, NC_000002.12:g.27392295_27392310dup, NC_000002.12:g.27392294_27392310dup, NC_000002.12:g.27392293_27392310dup, NC_000002.12:g.27392290_27392310dup, NC_000002.12:g.27392310_27392311insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.27615162_27615177del, NC_000002.11:g.27615166_27615177del, NC_000002.11:g.27615167_27615177del, NC_000002.11:g.27615168_27615177del, NC_000002.11:g.27615169_27615177del, NC_000002.11:g.27615170_27615177del, NC_000002.11:g.27615171_27615177del, NC_000002.11:g.27615172_27615177del, NC_000002.11:g.27615173_27615177del, NC_000002.11:g.27615174_27615177del, NC_000002.11:g.27615175_27615177del, NC_000002.11:g.27615176_27615177del, NC_000002.11:g.27615177del, NC_000002.11:g.27615177dup, NC_000002.11:g.27615176_27615177dup, NC_000002.11:g.27615175_27615177dup, NC_000002.11:g.27615174_27615177dup, NC_000002.11:g.27615173_27615177dup, NC_000002.11:g.27615172_27615177dup, NC_000002.11:g.27615171_27615177dup, NC_000002.11:g.27615170_27615177dup, NC_000002.11:g.27615169_27615177dup, NC_000002.11:g.27615168_27615177dup, NC_000002.11:g.27615167_27615177dup, NC_000002.11:g.27615166_27615177dup, NC_000002.11:g.27615165_27615177dup, NC_000002.11:g.27615164_27615177dup, NC_000002.11:g.27615163_27615177dup, NC_000002.11:g.27615162_27615177dup, NC_000002.11:g.27615161_27615177dup, NC_000002.11:g.27615160_27615177dup, NC_000002.11:g.27615157_27615177dup, NC_000002.11:g.27615177_27615178insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148343010219.

rs1483430102 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCC>- [Show Flanks]
Chromosome:: 2:27394140 (GRCh38)
2:27617007 (GRCh37)
Canonical SPDI:: NC_000002.12:27394137:CCGCC:CC
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27394140_27394142del, NC_000002.11:g.27617007_27617009del

Select item 148330711220.

rs1483307112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:27392155 (GRCh38)
2:27615022 (GRCh37)
Canonical SPDI:: NC_000002.12:27392154:T:A,NC_000002.12:27392154:T:C
Gene:: FTH1P3 (Varview), PPM1G (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.27392155T>A, NC_000002.12:g.27392155T>C, NC_000002.11:g.27615022T>A, NC_000002.11:g.27615022T>C

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