SNP Links for Protein (Select 525313655) - SNP

Select item 14906564931.

rs1490656493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46642261 (GRCh38)
6:46609998 (GRCh37)
Canonical SPDI:: NC_000006.12:46642260:C:T
Gene:: CYP39A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.46642261C>T, NC_000006.11:g.46609998C>T, NG_007962.1:g.15526G>A, NM_016593.5:c.215G>A, NM_016593.4:c.215G>A, NM_001278738.2:c.215G>A, NM_001278738.1:c.215G>A, NM_001278739.2:c.-127G>A, NM_001278739.1:c.-127G>A, XM_005249171.5:c.215G>A, XM_005249171.4:c.215G>A, XM_005249171.3:c.215G>A, XM_005249171.2:c.215G>A, XM_005249171.1:c.215G>A, XM_017010924.2:c.215G>A, XM_017010924.1:c.215G>A, XM_017010921.2:c.215G>A, XM_017010921.1:c.215G>A, XM_017010922.2:c.215G>A, XM_017010922.1:c.215G>A, XM_017010923.2:c.215G>A, XM_017010923.1:c.215G>A, XM_047418858.1:c.215G>A, XM_047418859.1:c.215G>A, XM_047418860.1:c.215G>A, NP_057677.2:p.Arg72Gln, NP_001265667.1:p.Arg72Gln, XP_005249228.1:p.Arg72Gln, XP_016866413.1:p.Arg72Gln, XP_016866410.1:p.Arg72Gln, XP_016866411.1:p.Arg72Gln, XP_016866412.1:p.Arg72Gln, XP_047274814.1:p.Arg72Gln, XP_047274815.1:p.Arg72Gln, XP_047274816.1:p.Arg72Gln

Select item 14870922842.

rs1487092284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:46642241 (GRCh38)
6:46609978 (GRCh37)
Canonical SPDI:: NC_000006.12:46642240:C:G
Gene:: CYP39A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.46642241C>G, NC_000006.11:g.46609978C>G, NG_007962.1:g.15546G>C, NM_016593.5:c.235G>C, NM_016593.4:c.235G>C, NM_001278738.2:c.235G>C, NM_001278738.1:c.235G>C, NM_001278739.2:c.-107G>C, NM_001278739.1:c.-107G>C, XM_005249171.5:c.235G>C, XM_005249171.4:c.235G>C, XM_005249171.3:c.235G>C, XM_005249171.2:c.235G>C, XM_005249171.1:c.235G>C, XM_017010924.2:c.235G>C, XM_017010924.1:c.235G>C, XM_017010921.2:c.235G>C, XM_017010921.1:c.235G>C, XM_017010922.2:c.235G>C, XM_017010922.1:c.235G>C, XM_017010923.2:c.235G>C, XM_017010923.1:c.235G>C, XM_047418858.1:c.235G>C, XM_047418859.1:c.235G>C, XM_047418860.1:c.235G>C, NP_057677.2:p.Glu79Gln, NP_001265667.1:p.Glu79Gln, XP_005249228.1:p.Glu79Gln, XP_016866413.1:p.Glu79Gln, XP_016866410.1:p.Glu79Gln, XP_016866411.1:p.Glu79Gln, XP_016866412.1:p.Glu79Gln, XP_047274814.1:p.Glu79Gln, XP_047274815.1:p.Glu79Gln, XP_047274816.1:p.Glu79Gln

Select item 14839588443.

rs1483958844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46631006 (GRCh38)
6:46598743 (GRCh37)
Canonical SPDI:: NC_000006.12:46631005:T:C
Gene:: CYP39A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46631006T>C, NC_000006.11:g.46598743T>C, NG_007962.1:g.26781A>G, NM_016593.5:c.797A>G, NM_016593.4:c.797A>G, NM_001278738.2:c.737A>G, NM_001278738.1:c.737A>G, NM_001278739.2:c.281A>G, NM_001278739.1:c.281A>G, XM_005249171.5:c.797A>G, XM_005249171.4:c.797A>G, XM_005249171.3:c.797A>G, XM_005249171.2:c.797A>G, XM_005249171.1:c.797A>G, XM_017010921.2:c.797A>G, XM_017010921.1:c.797A>G, XM_017010922.2:c.737A>G, XM_017010922.1:c.737A>G, XM_047418858.1:c.737A>G, XM_047418860.1:c.797A>G, NP_057677.2:p.Tyr266Cys, NP_001265667.1:p.Tyr246Cys, NP_001265668.1:p.Tyr94Cys, XP_005249228.1:p.Tyr266Cys, XP_016866410.1:p.Tyr266Cys, XP_016866411.1:p.Tyr246Cys, XP_047274814.1:p.Tyr246Cys, XP_047274816.1:p.Tyr266Cys

Select item 14829712784.

rs1482971278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:46596062 (GRCh38)
6:46563799 (GRCh37)
Canonical SPDI:: NC_000006.12:46596061:C:A
Gene:: CYP39A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46596062C>A, NC_000006.11:g.46563799C>A, NG_007962.1:g.61725G>T, NM_016593.5:c.990G>T, NM_016593.4:c.990G>T, NM_001278738.2:c.930G>T, NM_001278738.1:c.930G>T, NM_001278739.2:c.474G>T, NM_001278739.1:c.474G>T, XM_005249171.5:c.990G>T, XM_005249171.4:c.990G>T, XM_005249171.3:c.990G>T, XM_005249171.2:c.990G>T, XM_005249171.1:c.990G>T, XM_017010924.2:c.882G>T, XM_017010924.1:c.882G>T, XM_017010921.2:c.990G>T, XM_017010921.1:c.990G>T, XM_017010922.2:c.930G>T, XM_017010922.1:c.930G>T, XM_017010923.2:c.882G>T, XM_017010923.1:c.882G>T, XM_047418858.1:c.930G>T, XM_047418859.1:c.882G>T, XM_047418860.1:c.990G>T, NP_057677.2:p.Trp330Cys, NP_001265667.1:p.Trp310Cys, NP_001265668.1:p.Trp158Cys, XP_005249228.1:p.Trp330Cys, XP_016866413.1:p.Trp294Cys, XP_016866410.1:p.Trp330Cys, XP_016866411.1:p.Trp310Cys, XP_016866412.1:p.Trp294Cys, XP_047274814.1:p.Trp310Cys, XP_047274815.1:p.Trp294Cys, XP_047274816.1:p.Trp330Cys

Select item 14824676045.

rs1482467604 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:46636479 (GRCh38)
6:46604216 (GRCh37)
Canonical SPDI:: NC_000006.12:46636478:G:C
Gene:: CYP39A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.46636479G>C, NC_000006.11:g.46604216G>C, NG_007962.1:g.21308C>G, NM_016593.5:c.642C>G, NM_016593.4:c.642C>G, NM_001278738.2:c.582C>G, NM_001278738.1:c.582C>G, NM_001278739.2:c.126C>G, NM_001278739.1:c.126C>G, XM_005249171.5:c.642C>G, XM_005249171.4:c.642C>G, XM_005249171.3:c.642C>G, XM_005249171.2:c.642C>G, XM_005249171.1:c.642C>G, XM_017010924.2:c.642C>G, XM_017010924.1:c.642C>G, XM_017010921.2:c.642C>G, XM_017010921.1:c.642C>G, XM_017010922.2:c.582C>G, XM_017010922.1:c.582C>G, XM_017010923.2:c.642C>G, XM_017010923.1:c.642C>G, XM_047418858.1:c.582C>G, XM_047418859.1:c.642C>G, XM_047418860.1:c.642C>G, NP_057677.2:p.Asn214Lys, NP_001265667.1:p.Asn194Lys, NP_001265668.1:p.Asn42Lys, XP_005249228.1:p.Asn214Lys, XP_016866413.1:p.Asn214Lys, XP_016866410.1:p.Asn214Lys, XP_016866411.1:p.Asn194Lys, XP_016866412.1:p.Asn214Lys, XP_047274814.1:p.Asn194Lys, XP_047274815.1:p.Asn214Lys, XP_047274816.1:p.Asn214Lys

Select item 14820350566.

rs1482035056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46639505 (GRCh38)
6:46607242 (GRCh37)
Canonical SPDI:: NC_000006.12:46639504:G:A
Gene:: CYP39A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46639505G>A, NC_000006.11:g.46607242G>A, NG_007962.1:g.18282C>T, NM_016593.5:c.477C>T, NM_016593.4:c.477C>T, NM_001278738.2:c.417C>T, NM_001278738.1:c.417C>T, XM_005249171.5:c.477C>T, XM_005249171.4:c.477C>T, XM_005249171.3:c.477C>T, XM_005249171.2:c.477C>T, XM_005249171.1:c.477C>T, XM_017010924.2:c.477C>T, XM_017010924.1:c.477C>T, XM_017010921.2:c.477C>T, XM_017010921.1:c.477C>T, XM_017010922.2:c.417C>T, XM_017010922.1:c.417C>T, XM_017010923.2:c.477C>T, XM_017010923.1:c.477C>T, XM_047418858.1:c.417C>T, XM_047418859.1:c.477C>T, XM_047418860.1:c.477C>T

Select item 14801489947.

rs1480148994 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:46636401 (GRCh38)
6:46604138 (GRCh37)
Canonical SPDI:: NC_000006.12:46636400:TTTT:TTT
Gene:: CYP39A1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46636404del, NC_000006.11:g.46604141del, NG_007962.1:g.21386del, NM_016593.5:c.720del, NM_016593.4:c.720del, NM_001278738.2:c.660del, NM_001278738.1:c.660del, NM_001278739.2:c.204del, NM_001278739.1:c.204del, XM_005249171.5:c.720del, XM_005249171.4:c.720del, XM_005249171.3:c.720del, XM_005249171.2:c.720del, XM_005249171.1:c.720del, XM_017010924.2:c.720del, XM_017010924.1:c.720del, XM_017010921.2:c.720del, XM_017010921.1:c.720del, XM_017010922.2:c.660del, XM_017010922.1:c.660del, XM_017010923.2:c.720del, XM_017010923.1:c.720del, XM_047418858.1:c.660del, XM_047418859.1:c.720del, XM_047418860.1:c.720del, NP_057677.2:p.Asp241fs, NP_001265667.1:p.Asp221fs, NP_001265668.1:p.Asp69fs, XP_005249228.1:p.Asp241fs, XP_016866413.1:p.Asp241fs, XP_016866410.1:p.Asp241fs, XP_016866411.1:p.Asp221fs, XP_016866412.1:p.Asp241fs, XP_047274814.1:p.Asp221fs, XP_047274815.1:p.Asp241fs, XP_047274816.1:p.Asp241fs

Select item 14734960868.

rs1473496086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:46587134 (GRCh38)
6:46554871 (GRCh37)
Canonical SPDI:: NC_000006.12:46587133:T:G
Gene:: CYP39A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46587134T>G, NC_000006.11:g.46554871T>G, NG_007962.1:g.70653A>C, NM_016593.5:c.1193A>C, NM_016593.4:c.1193A>C, NM_001278738.2:c.1133A>C, NM_001278738.1:c.1133A>C, NM_001278739.2:c.677A>C, NM_001278739.1:c.677A>C, XM_005249171.5:c.1193A>C, XM_005249171.4:c.1193A>C, XM_005249171.3:c.1193A>C, XM_005249171.2:c.1193A>C, XM_005249171.1:c.1193A>C, XM_017010924.2:c.1085A>C, XM_017010924.1:c.1085A>C, XM_017010921.2:c.1193A>C, XM_017010921.1:c.1193A>C, XM_017010922.2:c.1133A>C, XM_017010922.1:c.1133A>C, XM_017010923.2:c.1085A>C, XM_017010923.1:c.1085A>C, XM_047418858.1:c.1133A>C, XM_047418859.1:c.1085A>C, NP_057677.2:p.His398Pro, NP_001265667.1:p.His378Pro, NP_001265668.1:p.His226Pro, XP_005249228.1:p.His398Pro, XP_016866413.1:p.His362Pro, XP_016866410.1:p.His398Pro, XP_016866411.1:p.His378Pro, XP_016866412.1:p.His362Pro, XP_047274814.1:p.His378Pro, XP_047274815.1:p.His362Pro

Select item 14726895909.

rs1472689590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:46587091 (GRCh38)
6:46554828 (GRCh37)
Canonical SPDI:: NC_000006.12:46587090:G:A,NC_000006.12:46587090:G:T
Gene:: CYP39A1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_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.46587091G>A, NC_000006.12:g.46587091G>T, NC_000006.11:g.46554828G>A, NC_000006.11:g.46554828G>T, NG_007962.1:g.70696C>T, NG_007962.1:g.70696C>A, NM_016593.5:c.1236C>T, NM_016593.5:c.1236C>A, NM_016593.4:c.1236C>T, NM_016593.4:c.1236C>A, NM_001278738.2:c.1176C>T, NM_001278738.2:c.1176C>A, NM_001278738.1:c.1176C>T, NM_001278738.1:c.1176C>A, NM_001278739.2:c.720C>T, NM_001278739.2:c.720C>A, NM_001278739.1:c.720C>T, NM_001278739.1:c.720C>A, XM_005249171.5:c.1236C>T, XM_005249171.5:c.1236C>A, XM_005249171.4:c.1236C>T, XM_005249171.4:c.1236C>A, XM_005249171.3:c.1236C>T, XM_005249171.3:c.1236C>A, XM_005249171.2:c.1236C>T, XM_005249171.2:c.1236C>A, XM_005249171.1:c.1236C>T, XM_005249171.1:c.1236C>A, XM_017010924.2:c.1128C>T, XM_017010924.2:c.1128C>A, XM_017010924.1:c.1128C>T, XM_017010924.1:c.1128C>A, XM_017010921.2:c.1236C>T, XM_017010921.2:c.1236C>A, XM_017010921.1:c.1236C>T, XM_017010921.1:c.1236C>A, XM_017010922.2:c.1176C>T, XM_017010922.2:c.1176C>A, XM_017010922.1:c.1176C>T, XM_017010922.1:c.1176C>A, XM_017010923.2:c.1128C>T, XM_017010923.2:c.1128C>A, XM_017010923.1:c.1128C>T, XM_017010923.1:c.1128C>A, XM_047418858.1:c.1176C>T, XM_047418858.1:c.1176C>A, XM_047418859.1:c.1128C>T, XM_047418859.1:c.1128C>A, NP_057677.2:p.Phe412Leu, NP_001265667.1:p.Phe392Leu, NP_001265668.1:p.Phe240Leu, XP_005249228.1:p.Phe412Leu, XP_016866413.1:p.Phe376Leu, XP_016866410.1:p.Phe412Leu, XP_016866411.1:p.Phe392Leu, XP_016866412.1:p.Phe376Leu, XP_047274814.1:p.Phe392Leu, XP_047274815.1:p.Phe376Leu

Select item 147233165210.

rs1472331652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46636426 (GRCh38)
6:46604163 (GRCh37)
Canonical SPDI:: NC_000006.12:46636425:T:C
Gene:: CYP39A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.46636426T>C, NC_000006.11:g.46604163T>C, NG_007962.1:g.21361A>G, NM_016593.5:c.695A>G, NM_016593.4:c.695A>G, NM_001278738.2:c.635A>G, NM_001278738.1:c.635A>G, NM_001278739.2:c.179A>G, NM_001278739.1:c.179A>G, XM_005249171.5:c.695A>G, XM_005249171.4:c.695A>G, XM_005249171.3:c.695A>G, XM_005249171.2:c.695A>G, XM_005249171.1:c.695A>G, XM_017010924.2:c.695A>G, XM_017010924.1:c.695A>G, XM_017010921.2:c.695A>G, XM_017010921.1:c.695A>G, XM_017010922.2:c.635A>G, XM_017010922.1:c.635A>G, XM_017010923.2:c.695A>G, XM_017010923.1:c.695A>G, XM_047418858.1:c.635A>G, XM_047418859.1:c.695A>G, XM_047418860.1:c.695A>G, NP_057677.2:p.Asp232Gly, NP_001265667.1:p.Asp212Gly, NP_001265668.1:p.Asp60Gly, XP_005249228.1:p.Asp232Gly, XP_016866413.1:p.Asp232Gly, XP_016866410.1:p.Asp232Gly, XP_016866411.1:p.Asp212Gly, XP_016866412.1:p.Asp232Gly, XP_047274814.1:p.Asp212Gly, XP_047274815.1:p.Asp232Gly, XP_047274816.1:p.Asp232Gly

Select item 147178641211.

rs1471786412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:46550417 (GRCh38)
6:46518154 (GRCh37)
Canonical SPDI:: NC_000006.12:46550416:A:G
Gene:: CYP39A1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.46550417A>G, NC_000006.11:g.46518154A>G, NG_007962.1:g.107370T>C, NM_016593.5:c.1359T>C, NM_016593.4:c.1359T>C, NM_001278738.2:c.1299T>C, NM_001278738.1:c.1299T>C, NM_001278739.2:c.843T>C, NM_001278739.1:c.843T>C, XM_017010924.2:c.1251T>C, XM_017010924.1:c.1251T>C

Select item 147094552512.

rs1470945525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46639518 (GRCh38)
6:46607255 (GRCh37)
Canonical SPDI:: NC_000006.12:46639517:G:A
Gene:: CYP39A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.46639518G>A, NC_000006.11:g.46607255G>A, NG_007962.1:g.18269C>T, NM_016593.5:c.464C>T, NM_016593.4:c.464C>T, NM_001278738.2:c.404C>T, NM_001278738.1:c.404C>T, XM_005249171.5:c.464C>T, XM_005249171.4:c.464C>T, XM_005249171.3:c.464C>T, XM_005249171.2:c.464C>T, XM_005249171.1:c.464C>T, XM_017010924.2:c.464C>T, XM_017010924.1:c.464C>T, XM_017010921.2:c.464C>T, XM_017010921.1:c.464C>T, XM_017010922.2:c.404C>T, XM_017010922.1:c.404C>T, XM_017010923.2:c.464C>T, XM_017010923.1:c.464C>T, XM_047418858.1:c.404C>T, XM_047418859.1:c.464C>T, XM_047418860.1:c.464C>T, NP_057677.2:p.Thr155Ile, NP_001265667.1:p.Thr135Ile, XP_005249228.1:p.Thr155Ile, XP_016866413.1:p.Thr155Ile, XP_016866410.1:p.Thr155Ile, XP_016866411.1:p.Thr135Ile, XP_016866412.1:p.Thr155Ile, XP_047274814.1:p.Thr135Ile, XP_047274815.1:p.Thr155Ile, XP_047274816.1:p.Thr155Ile

Select item 146598478913.

rs1465984789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46553835 (GRCh38)
6:46521572 (GRCh37)
Canonical SPDI:: NC_000006.12:46553834:C:T
Gene:: CYP39A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_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.46553835C>T, NC_000006.11:g.46521572C>T, NG_007962.1:g.103952G>A, NM_016593.5:c.1270G>A, NM_016593.4:c.1270G>A, NM_001278738.2:c.1210G>A, NM_001278738.1:c.1210G>A, NM_001278739.2:c.754G>A, NM_001278739.1:c.754G>A, XM_017010924.2:c.1162G>A, XM_017010924.1:c.1162G>A, XM_047418860.1:c.1085G>A, NP_057677.2:p.Val424Ile, NP_001265667.1:p.Val404Ile, NP_001265668.1:p.Val252Ile, XP_016866413.1:p.Val388Ile, XP_047274816.1:p.Gly362Asp

Select item 146448968714.

rs1464489687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46630995 (GRCh38)
6:46598732 (GRCh37)
Canonical SPDI:: NC_000006.12:46630994:G:A
Gene:: CYP39A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000006.12:g.46630995G>A, NC_000006.11:g.46598732G>A, NG_007962.1:g.26792C>T, NM_016593.5:c.808C>T, NM_016593.4:c.808C>T, NM_001278738.2:c.748C>T, NM_001278738.1:c.748C>T, NM_001278739.2:c.292C>T, NM_001278739.1:c.292C>T, XM_005249171.5:c.808C>T, XM_005249171.4:c.808C>T, XM_005249171.3:c.808C>T, XM_005249171.2:c.808C>T, XM_005249171.1:c.808C>T, XM_017010921.2:c.808C>T, XM_017010921.1:c.808C>T, XM_017010922.2:c.748C>T, XM_017010922.1:c.748C>T, XM_047418858.1:c.748C>T, XM_047418860.1:c.808C>T

Select item 146273059115.

rs1462730591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:46652492 (GRCh38)
6:46620229 (GRCh37)
Canonical SPDI:: NC_000006.12:46652491:A:T
Gene:: SLC25A27 (Varview), CYP39A1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.46652492A>T, NC_000006.11:g.46620229A>T, NG_007962.1:g.5295T>A, NM_016593.5:c.91T>A, NM_016593.4:c.91T>A, NM_001278738.2:c.91T>A, NM_001278738.1:c.91T>A, NM_001278739.2:c.-251T>A, NM_001278739.1:c.-251T>A, XM_005249171.5:c.91T>A, XM_005249171.4:c.91T>A, XM_005249171.3:c.91T>A, XM_005249171.2:c.91T>A, XM_005249171.1:c.91T>A, XM_017010924.2:c.91T>A, XM_017010924.1:c.91T>A, XM_017010921.2:c.91T>A, XM_017010921.1:c.91T>A, XM_017010922.2:c.91T>A, XM_017010922.1:c.91T>A, XM_017010923.2:c.91T>A, XM_017010923.1:c.91T>A, XM_047418858.1:c.91T>A, XM_047418859.1:c.91T>A, XM_047418860.1:c.91T>A, NP_057677.2:p.Cys31Ser, NP_001265667.1:p.Cys31Ser, XP_005249228.1:p.Cys31Ser, XP_016866413.1:p.Cys31Ser, XP_016866410.1:p.Cys31Ser, XP_016866411.1:p.Cys31Ser, XP_016866412.1:p.Cys31Ser, XP_047274814.1:p.Cys31Ser, XP_047274815.1:p.Cys31Ser, XP_047274816.1:p.Cys31Ser

Select item 145562765916.

rs1455627659 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:46588128 (GRCh38)
6:46555865 (GRCh37)
Canonical SPDI:: NC_000006.12:46588127:T:A
Gene:: CYP39A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.46588128T>A, NC_000006.11:g.46555865T>A, NG_007962.1:g.69659A>T, NM_016593.5:c.1067A>T, NM_016593.4:c.1067A>T, NM_001278738.2:c.1007A>T, NM_001278738.1:c.1007A>T, NM_001278739.2:c.551A>T, NM_001278739.1:c.551A>T, XM_005249171.5:c.1067A>T, XM_005249171.4:c.1067A>T, XM_005249171.3:c.1067A>T, XM_005249171.2:c.1067A>T, XM_005249171.1:c.1067A>T, XM_017010924.2:c.959A>T, XM_017010924.1:c.959A>T, XM_017010921.2:c.1067A>T, XM_017010921.1:c.1067A>T, XM_017010922.2:c.1007A>T, XM_017010922.1:c.1007A>T, XM_017010923.2:c.959A>T, XM_017010923.1:c.959A>T, XM_047418858.1:c.1007A>T, XM_047418859.1:c.959A>T, NP_057677.2:p.Asn356Ile, NP_001265667.1:p.Asn336Ile, NP_001265668.1:p.Asn184Ile, XP_005249228.1:p.Asn356Ile, XP_016866413.1:p.Asn320Ile, XP_016866410.1:p.Asn356Ile, XP_016866411.1:p.Asn336Ile, XP_016866412.1:p.Asn320Ile, XP_047274814.1:p.Asn336Ile, XP_047274815.1:p.Asn320Ile

Select item 145530373217.

rs1455303732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46553851 (GRCh38)
6:46521588 (GRCh37)
Canonical SPDI:: NC_000006.12:46553850:C:T
Gene:: CYP39A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.46553851C>T, NC_000006.11:g.46521588C>T, NG_007962.1:g.103936G>A, NM_016593.5:c.1254G>A, NM_016593.4:c.1254G>A, NM_001278738.2:c.1194G>A, NM_001278738.1:c.1194G>A, NM_001278739.2:c.738G>A, NM_001278739.1:c.738G>A, XM_017010924.2:c.1146G>A, XM_017010924.1:c.1146G>A, XM_047418860.1:c.1069G>A, NP_057677.2:p.Trp418Ter, NP_001265667.1:p.Trp398Ter, NP_001265668.1:p.Trp246Ter, XP_016866413.1:p.Trp382Ter, XP_047274816.1:p.Val357Ile

Select item 144989562018.

rs1449895620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46637925 (GRCh38)
6:46605662 (GRCh37)
Canonical SPDI:: NC_000006.12:46637924:G:A
Gene:: CYP39A1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00011/2 (TOMMO)
HGVS:: NC_000006.12:g.46637925G>A, NC_000006.11:g.46605662G>A, NG_007962.1:g.19862C>T, NM_016593.5:c.542C>T, NM_016593.4:c.542C>T, NM_001278738.2:c.482C>T, NM_001278738.1:c.482C>T, NM_001278739.2:c.26C>T, NM_001278739.1:c.26C>T, XM_005249171.5:c.542C>T, XM_005249171.4:c.542C>T, XM_005249171.3:c.542C>T, XM_005249171.2:c.542C>T, XM_005249171.1:c.542C>T, XM_017010924.2:c.542C>T, XM_017010924.1:c.542C>T, XM_017010921.2:c.542C>T, XM_017010921.1:c.542C>T, XM_017010922.2:c.482C>T, XM_017010922.1:c.482C>T, XM_017010923.2:c.542C>T, XM_017010923.1:c.542C>T, XM_047418858.1:c.482C>T, XM_047418859.1:c.542C>T, XM_047418860.1:c.542C>T, NP_057677.2:p.Ser181Phe, NP_001265667.1:p.Ser161Phe, NP_001265668.1:p.Ser9Phe, XP_005249228.1:p.Ser181Phe, XP_016866413.1:p.Ser181Phe, XP_016866410.1:p.Ser181Phe, XP_016866411.1:p.Ser161Phe, XP_016866412.1:p.Ser181Phe, XP_047274814.1:p.Ser161Phe, XP_047274815.1:p.Ser181Phe, XP_047274816.1:p.Ser181Phe

Select item 144804862619.

rs1448048626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:46553824 (GRCh38)
6:46521561 (GRCh37)
Canonical SPDI:: NC_000006.12:46553823:A:G
Gene:: CYP39A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.46553824A>G, NC_000006.11:g.46521561A>G, NG_007962.1:g.103963T>C, NM_016593.5:c.1281T>C, NM_016593.4:c.1281T>C, NM_001278738.2:c.1221T>C, NM_001278738.1:c.1221T>C, NM_001278739.2:c.765T>C, NM_001278739.1:c.765T>C, XM_017010924.2:c.1173T>C, XM_017010924.1:c.1173T>C, XM_047418860.1:c.1096T>C, XP_047274816.1:p.Tyr366His

Select item 144670775420.

rs1446707754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46637846 (GRCh38)
6:46605583 (GRCh37)
Canonical SPDI:: NC_000006.12:46637845:C:T
Gene:: CYP39A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.46637846C>T, NC_000006.11:g.46605583C>T, NG_007962.1:g.19941G>A, NM_016593.5:c.621G>A, NM_016593.4:c.621G>A, NM_001278738.2:c.561G>A, NM_001278738.1:c.561G>A, NM_001278739.2:c.105G>A, NM_001278739.1:c.105G>A, XM_005249171.5:c.621G>A, XM_005249171.4:c.621G>A, XM_005249171.3:c.621G>A, XM_005249171.2:c.621G>A, XM_005249171.1:c.621G>A, XM_017010924.2:c.621G>A, XM_017010924.1:c.621G>A, XM_017010921.2:c.621G>A, XM_017010921.1:c.621G>A, XM_017010922.2:c.561G>A, XM_017010922.1:c.561G>A, XM_017010923.2:c.621G>A, XM_017010923.1:c.621G>A, XM_047418858.1:c.561G>A, XM_047418859.1:c.621G>A, XM_047418860.1:c.621G>A

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Result Filters

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Publication

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 453

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