SNP Links for Gene (Select 222826) - SNP

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Select item 14915002151.

rs1491500215 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:4086446 (GRCh38)
6:4086680 (GRCh37)
Canonical SPDI:: NC_000006.12:4086445:CA:
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00126/15 (ALFA)
-=0.00273/77 (TOMMO)
HGVS:: NC_000006.12:g.4086446_4086447del, NC_000006.11:g.4086680_4086681del

Select item 14912993092.

rs1491299309 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 6:4087696 (GRCh38)
6:4087930 (GRCh37)
Canonical SPDI:: NC_000006.12:4087695:TC:
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000006.12:g.4087696_4087697del, NC_000006.11:g.4087930_4087931del, NR_104463.3:n.820_821del, NR_104463.2:n.820_821del, NR_104463.1:n.823_824del, NM_001085401.3:c.55_56del, NM_001085401.2:c.55_56del, NR_172627.1:n.820_821del

Select item 14912051803.

rs1491205180 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:4085312 (GRCh38)
6:4085547 (GRCh37)
Canonical SPDI:: NC_000006.12:4085312::G
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000064/17 (TOPMED)
G=0.000116/7 (GnomAD)
HGVS:: NC_000006.12:g.4085312_4085313insG, NC_000006.11:g.4085546_4085547insG

Select item 14910467514.

rs1491046751 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:4086470 (GRCh38)
6:4086705 (GRCh37)
Canonical SPDI:: NC_000006.12:4086470::T
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000006.12:g.4086470_4086471insT, NC_000006.11:g.4086704_4086705insT

Select item 14910039785.

rs1491003978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:4080841 (GRCh38)
6:4081075 (GRCh37)
Canonical SPDI:: NC_000006.12:4080840:A:G
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.4080841A>G, NC_000006.11:g.4081075A>G

Select item 14907520606.

rs1490752060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:4079148 (GRCh38)
6:4079382 (GRCh37)
Canonical SPDI:: NC_000006.12:4079147:C:T
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.4079148C>T, NC_000006.11:g.4079382C>T, NM_173563.2:c.-331G>A

Select item 14907300737.

rs1490730073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:4077820 (GRCh38)
6:4078054 (GRCh37)
Canonical SPDI:: NC_000006.12:4077819:C:T
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002013/9 (ALFA)
T=0.000036/5 (GnomAD)
T=0.002009/9 (Estonian)
HGVS:: NC_000006.12:g.4077820C>T, NC_000006.11:g.4078054C>T, XM_006715026.4:c.-510G>A, XM_006715026.3:c.-510G>A, XM_006715026.2:c.-510G>A, XM_017010480.3:c.-346G>A, XM_017010480.2:c.-346G>A, XM_017010480.1:c.-346G>A, XM_011514416.3:c.-346G>A, XM_011514416.2:c.-346G>A, XM_011514416.1:c.-346G>A, XM_017010481.2:c.-419G>A, XM_017010481.1:c.-419G>A

Select item 14905513878.

rs1490551387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:4078629 (GRCh38)
6:4078863 (GRCh37)
Canonical SPDI:: NC_000006.12:4078628:G:A
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.4078629G>A, NC_000006.11:g.4078863G>A

Select item 14905172039.

rs1490517203 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:4080102 (GRCh38)
6:4080336 (GRCh37)
Canonical SPDI:: NC_000006.12:4080101:A:T
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.4080102A>T, NC_000006.11:g.4080336A>T

Select item 149021611110.

rs1490216111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:4079470 (GRCh38)
6:4079704 (GRCh37)
Canonical SPDI:: NC_000006.12:4079469:C:A,NC_000006.12:4079469:C:T
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.4079470C>A, NC_000006.12:g.4079470C>T, NC_000006.11:g.4079704C>A, NC_000006.11:g.4079704C>T, NR_104463.3:n.262C>A, NR_104463.3:n.262C>T, NR_104463.2:n.262C>A, NR_104463.2:n.262C>T, NR_104463.1:n.265C>A, NR_104463.1:n.265C>T, NR_104464.3:n.262C>A, NR_104464.3:n.262C>T, NR_104464.2:n.262C>A, NR_104464.2:n.262C>T, NR_104464.1:n.265C>A, NR_104464.1:n.265C>T, NM_001085401.3:c.-504C>A, NM_001085401.3:c.-504C>T, NM_001085401.2:c.-504C>A, NM_001085401.2:c.-504C>T, NM_206834.1:c.-117C>A, NM_206834.1:c.-117C>T, NR_172627.1:n.262C>A, NR_172627.1:n.262C>T, NR_172628.1:n.262C>A, NR_172628.1:n.262C>T

Select item 149016305611.

rs1490163056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:4070967 (GRCh38)
6:4071201 (GRCh37)
Canonical SPDI:: NC_000006.12:4070966:G:C
Gene:: FAM217A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.4070967G>C, NC_000006.11:g.4071201G>C

Select item 149007032412.

rs1490070324 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTTAGCAATAAGGGAAGGCGACAAACAGTTTAGCT>- [Show Flanks]
Chromosome:: 6:4068728 (GRCh38)
6:4068962 (GRCh37)
Canonical SPDI:: NC_000006.12:4068726:TCCTTAGCAATAAGGGAAGGCGACAAACAGTTTAGCT:T
Gene:: FAM217A (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.4068728_4068763del, NC_000006.11:g.4068962_4068997del, XM_005248951.5:c.1434_1469del, XM_005248951.4:c.1434_1469del, XM_005248951.3:c.1434_1469del, XM_005248951.2:c.1434_1469del, XM_005248951.1:c.1434_1469del, XM_006715026.4:c.1272_1307del, XM_006715026.3:c.1272_1307del, XM_006715026.2:c.1272_1307del, XM_006715026.1:c.1272_1307del, XM_006715025.4:c.1272_1307del, XM_006715025.3:c.1272_1307del, XM_006715025.2:c.1272_1307del, XM_006715025.1:c.1272_1307del, XM_011514414.4:c.1272_1307del, XM_011514414.3:c.1272_1307del, XM_011514414.2:c.1272_1307del, XM_011514414.1:c.1272_1307del, XM_017010480.3:c.1521_1556del, XM_017010480.2:c.1521_1556del, XM_017010480.1:c.1521_1556del, XM_011514416.3:c.1422_1457del, XM_011514416.2:c.1422_1457del, XM_011514416.1:c.1422_1457del, NM_173563.3:c.1461_1496del, NM_173563.2:c.1461_1496del, XM_011514417.3:c.1317_1352del, XM_011514417.2:c.1317_1352del, XM_011514417.1:c.1317_1352del, XM_017010481.2:c.1434_1469del, XM_017010481.1:c.1434_1469del, XM_011514415.2:c.1431_1466del, XM_011514415.1:c.1431_1466del, XM_017010482.2:c.1272_1307del, XM_017010482.1:c.1272_1307del, XM_047418385.1:c.1272_1307del, XP_005249008.1:p.Lys478_Asp490delinsAsn, XP_006715089.1:p.Lys424_Asp436delinsAsn, XP_006715088.1:p.Lys424_Asp436delinsAsn, XP_011512716.1:p.Lys424_Asp436delinsAsn, XP_016865969.1:p.Lys507_Asp519delinsAsn, XP_011512718.1:p.Lys474_Asp486delinsAsn, NP_775834.2:p.Lys487_Asp499delinsAsn, XP_011512719.1:p.Lys439_Asp451delinsAsn, XP_016865970.1:p.Lys478_Asp490delinsAsn, XP_011512717.1:p.Lys477_Asp489delinsAsn, XP_016865971.1:p.Lys424_Asp436delinsAsn, XP_047274341.1:p.Lys424_Asp436delinsAsn

Select item 148959441813.

rs1489594418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:4083340 (GRCh38)
6:4083574 (GRCh37)
Canonical SPDI:: NC_000006.12:4083339:A:C
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.4083340A>C, NC_000006.11:g.4083574A>C

Select item 148918743514.

rs1489187435 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTAATATA>- [Show Flanks]
Chromosome:: 6:4074253 (GRCh38)
6:4074487 (GRCh37)
Canonical SPDI:: NC_000006.12:4074249:ATACTTAATATA:ATA
Gene:: FAM217A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.4074253_4074261del, NC_000006.11:g.4074487_4074495del

Select item 148897862415.

rs1488978624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:4073870 (GRCh38)
6:4074104 (GRCh37)
Canonical SPDI:: NC_000006.12:4073869:A:G
Gene:: FAM217A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.4073870A>G, NC_000006.11:g.4074104A>G

Select item 148895655616.

rs1488956556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:4079404 (GRCh38)
6:4079638 (GRCh37)
Canonical SPDI:: NC_000006.12:4079403:C:A,NC_000006.12:4079403:C:T
Gene:: FAM217A (Varview), C6orf201 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.4079404C>A, NC_000006.12:g.4079404C>T, NC_000006.11:g.4079638C>A, NC_000006.11:g.4079638C>T, NR_104463.3:n.196C>A, NR_104463.3:n.196C>T, NR_104463.2:n.196C>A, NR_104463.2:n.196C>T, NR_104463.1:n.199C>A, NR_104463.1:n.199C>T, NR_104464.3:n.196C>A, NR_104464.3:n.196C>T, NR_104464.2:n.196C>A, NR_104464.2:n.196C>T, NR_104464.1:n.199C>A, NR_104464.1:n.199C>T, NM_001085401.3:c.-570C>A, NM_001085401.3:c.-570C>T, NM_001085401.2:c.-570C>A, NM_001085401.2:c.-570C>T, NM_206834.1:c.-183C>A, NM_206834.1:c.-183C>T, NR_172627.1:n.196C>A, NR_172627.1:n.196C>T, NR_172628.1:n.196C>A, NR_172628.1:n.196C>T

Select item 148878458117.

rs1488784581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:4070864 (GRCh38)
6:4071098 (GRCh37)
Canonical SPDI:: NC_000006.12:4070863:C:T
Gene:: FAM217A (Varview)
Functional Consequence:: intron_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_000006.12:g.4070864C>T, NC_000006.11:g.4071098C>T

Select item 148871378418.

rs1488713784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:4069129 (GRCh38)
6:4069363 (GRCh37)
Canonical SPDI:: NC_000006.12:4069128:T:C
Gene:: FAM217A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.4069129T>C, NC_000006.11:g.4069363T>C, XM_005248951.5:c.1067A>G, XM_005248951.4:c.1067A>G, XM_005248951.3:c.1067A>G, XM_005248951.2:c.1067A>G, XM_005248951.1:c.1067A>G, XM_006715026.4:c.905A>G, XM_006715026.3:c.905A>G, XM_006715026.2:c.905A>G, XM_006715026.1:c.905A>G, XM_006715025.4:c.905A>G, XM_006715025.3:c.905A>G, XM_006715025.2:c.905A>G, XM_006715025.1:c.905A>G, XM_011514414.4:c.905A>G, XM_011514414.3:c.905A>G, XM_011514414.2:c.905A>G, XM_011514414.1:c.905A>G, XM_017010480.3:c.1154A>G, XM_017010480.2:c.1154A>G, XM_017010480.1:c.1154A>G, XM_011514416.3:c.1055A>G, XM_011514416.2:c.1055A>G, XM_011514416.1:c.1055A>G, NM_173563.3:c.1094A>G, NM_173563.2:c.1094A>G, XM_011514417.3:c.950A>G, XM_011514417.2:c.950A>G, XM_011514417.1:c.950A>G, XM_017010481.2:c.1067A>G, XM_017010481.1:c.1067A>G, XM_011514415.2:c.1064A>G, XM_011514415.1:c.1064A>G, XM_017010482.2:c.905A>G, XM_017010482.1:c.905A>G, XM_047418385.1:c.905A>G, XP_005249008.1:p.Asn356Ser, XP_006715089.1:p.Asn302Ser, XP_006715088.1:p.Asn302Ser, XP_011512716.1:p.Asn302Ser, XP_016865969.1:p.Asn385Ser, XP_011512718.1:p.Asn352Ser, NP_775834.2:p.Asn365Ser, XP_011512719.1:p.Asn317Ser, XP_016865970.1:p.Asn356Ser, XP_011512717.1:p.Asn355Ser, XP_016865971.1:p.Asn302Ser, XP_047274341.1:p.Asn302Ser

Select item 148857938119.

rs1488579381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:4074263 (GRCh38)
6:4074497 (GRCh37)
Canonical SPDI:: NC_000006.12:4074262:C:A,NC_000006.12:4074262:C:G
Gene:: FAM217A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.4074263C>A, NC_000006.12:g.4074263C>G, NC_000006.11:g.4074497C>A, NC_000006.11:g.4074497C>G

Select item 148843523520.

rs1488435235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:4072652 (GRCh38)
6:4072886 (GRCh37)
Canonical SPDI:: NC_000006.12:4072651:C:T
Gene:: FAM217A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.4072652C>T, NC_000006.11:g.4072886C>T

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