SNP Links for Gene (Select 57414) - SNP

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Select item 14913779421.

rs1491377942 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 7:75878895 (GRCh38)
7:75508213 (GRCh37)
Canonical SPDI:: NC_000007.14:75878894:CG:
Gene:: RHBDD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.75878895_75878896del, NC_000007.13:g.75508213_75508214del, NG_051655.2:g.4863_4864del, NG_051655.1:g.4904_4905del, NW_003871064.1:g.3408131_3408132del

Select item 14907677982.

rs1490767798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:75882768 (GRCh38)
7:75512086 (GRCh37)
Canonical SPDI:: NC_000007.14:75882767:T:G
Gene:: RHBDD2 (Varview)
Functional Consequence:: 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_000007.14:g.75882768T>G, NC_000007.13:g.75512086T>G, NG_051655.2:g.8736T>G, NG_051655.1:g.8777T>G, NW_003871064.1:g.3412004T>G

Select item 14905667673.

rs1490566767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:75887789 (GRCh38)
7:75517107 (GRCh37)
Canonical SPDI:: NC_000007.14:75887788:A:C,NC_000007.14:75887788:A:G
Gene:: RHBDD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000106/2 (TOMMO)
HGVS:: NC_000007.14:g.75887789A>C, NC_000007.14:g.75887789A>G, NC_000007.13:g.75517107A>C, NC_000007.13:g.75517107A>G, NG_051655.2:g.13757A>C, NG_051655.2:g.13757A>G, NG_051655.1:g.13798A>C, NG_051655.1:g.13798A>G, NW_003871064.1:g.3417025A>C, NW_003871064.1:g.3417025A>G

Select item 14900056404.

rs1490005640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:75882238 (GRCh38)
7:75511556 (GRCh37)
Canonical SPDI:: NC_000007.14:75882237:T:G
Gene:: RHBDD2 (Varview)
Functional Consequence:: splice_donor_variant,intron_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_000007.14:g.75882238T>G, NC_000007.13:g.75511556T>G, NG_051655.2:g.8206T>G, NG_051655.1:g.8247T>G, NW_003871064.1:g.3411474T>G

Select item 14896769285.

rs1489676928 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAA>- [Show Flanks]
Chromosome:: 7:75887322 (GRCh38)
7:75516640 (GRCh37)
Canonical SPDI:: NC_000007.14:75887319:AACAA:AA
Gene:: RHBDD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.75887322_75887324del, NC_000007.13:g.75516640_75516642del, NG_051655.2:g.13290_13292del, NG_051655.1:g.13331_13333del, NW_003871064.1:g.3416558_3416560del

Select item 14895871186.

rs1489587118 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:75883668 (GRCh38)
7:75512986 (GRCh37)
Canonical SPDI:: NC_000007.14:75883667:C:T
Gene:: RHBDD2 (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_000007.14:g.75883668C>T, NC_000007.13:g.75512986C>T, NG_051655.2:g.9636C>T, NG_051655.1:g.9677C>T, NW_003871064.1:g.3412904C>T

Select item 14894741667.

rs1489474166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:75884697 (GRCh38)
7:75514015 (GRCh37)
Canonical SPDI:: NC_000007.14:75884696:G:T
Gene:: RHBDD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.75884697G>T, NC_000007.13:g.75514015G>T, NG_051655.2:g.10665G>T, NG_051655.1:g.10706G>T, NW_003871064.1:g.3413933G>T

Select item 14894271808.

rs1489427180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:75887909 (GRCh38)
7:75517227 (GRCh37)
Canonical SPDI:: NC_000007.14:75887908:A:C,NC_000007.14:75887908:A:G
Gene:: RHBDD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.75887909A>C, NC_000007.14:g.75887909A>G, NC_000007.13:g.75517227A>C, NC_000007.13:g.75517227A>G, NG_051655.2:g.13877A>C, NG_051655.2:g.13877A>G, NG_051655.1:g.13918A>C, NG_051655.1:g.13918A>G, NW_003871064.1:g.3417145A>C, NW_003871064.1:g.3417145A>G

Select item 14888102899.

rs1488810289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:75880539 (GRCh38)
7:75509857 (GRCh37)
Canonical SPDI:: NC_000007.14:75880538:G:A
Gene:: RHBDD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.75880539G>A, NC_000007.13:g.75509857G>A, NG_051655.2:g.6507G>A, NG_051655.1:g.6548G>A, NW_003871064.1:g.3409775G>A

Select item 148840081410.

rs1488400814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:75886680 (GRCh38)
7:75515998 (GRCh37)
Canonical SPDI:: NC_000007.14:75886679:G:A,NC_000007.14:75886679:G:C
Gene:: RHBDD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.75886680G>A, NC_000007.14:g.75886680G>C, NC_000007.13:g.75515998G>A, NC_000007.13:g.75515998G>C, NG_051655.2:g.12648G>A, NG_051655.2:g.12648G>C, NG_051655.1:g.12689G>A, NG_051655.1:g.12689G>C, NW_003871064.1:g.3415916G>A, NW_003871064.1:g.3415916G>C

Select item 148815974111.

rs1488159741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:75881475 (GRCh38)
7:75510793 (GRCh37)
Canonical SPDI:: NC_000007.14:75881474:C:G
Gene:: RHBDD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_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_000007.14:g.75881475C>G, NC_000007.13:g.75510793C>G, NG_051655.2:g.7443C>G, NG_051655.1:g.7484C>G, NM_001040457.3:c.-257C>G, NM_001040457.2:c.-257C>G, NM_001040457.1:c.-257C>G, NM_001346186.2:c.-257C>G, NM_001346186.1:c.-257C>G, NR_144390.2:n.338C>G, NR_144390.1:n.380C>G, NR_144391.2:n.338C>G, NR_144391.1:n.380C>G, NW_003871064.1:g.3410711C>G, XM_047420655.1:c.-261C>G

Select item 148774234312.

rs1487742343 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAATCTTGGC>- [Show Flanks]
Chromosome:: 7:75887379 (GRCh38)
7:75516697 (GRCh37)
Canonical SPDI:: NC_000007.14:75887374:TGGCACAATCTTGGC:TGGC
Gene:: RHBDD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGGC=0.000071/1 (ALFA)
-=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.75887379_75887389del, NC_000007.13:g.75516697_75516707del, NG_051655.2:g.13347_13357del, NG_051655.1:g.13388_13398del, NW_003871064.1:g.3416615_3416625del

Select item 148741205513.

rs1487412055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:75878178 (GRCh38)
7:75507496 (GRCh37)
Canonical SPDI:: NC_000007.14:75878177:A:T
Gene:: RHBDD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.75878178A>T, NC_000007.13:g.75507496A>T, NG_051655.2:g.4146A>T, NG_051655.1:g.4187A>T, NW_003871064.1:g.3407414A>T

Select item 148729909014.

rs1487299090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:75877221 (GRCh38)
7:75506539 (GRCh37)
Canonical SPDI:: NC_000007.14:75877220:G:T
Gene:: RHBDD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.75877221G>T, NC_000007.13:g.75506539G>T, NG_051655.2:g.3189G>T, NG_051655.1:g.3230G>T, NW_003871064.1:g.3406457G>T

Select item 148711614015.

rs1487116140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:75880043 (GRCh38)
7:75509361 (GRCh37)
Canonical SPDI:: NC_000007.14:75880042:G:A
Gene:: RHBDD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.75880043G>A, NC_000007.13:g.75509361G>A, NG_051655.2:g.6011G>A, NG_051655.1:g.6052G>A, NW_003871064.1:g.3409279G>A

Select item 148677940816.

rs1486779408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:75878978 (GRCh38)
7:75508296 (GRCh37)
Canonical SPDI:: NC_000007.14:75878977:C:G
Gene:: RHBDD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.75878978C>G, NC_000007.13:g.75508296C>G, NG_051655.2:g.4946C>G, NG_051655.1:g.4987C>G, NW_003871064.1:g.3408214C>G, NM_020684.2:c.31C>G, NM_020684.1:c.31C>G

Select item 148666632817.

rs1486666328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:75878458 (GRCh38)
7:75507776 (GRCh37)
Canonical SPDI:: NC_000007.14:75878457:A:G
Gene:: RHBDD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.75878458A>G, NC_000007.13:g.75507776A>G, NG_051655.2:g.4426A>G, NG_051655.1:g.4467A>G, NW_003871064.1:g.3407694A>G

Select item 148649793218.

rs1486497932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:75881572 (GRCh38)
7:75510890 (GRCh37)
Canonical SPDI:: NC_000007.14:75881571:T:C
Gene:: RHBDD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.75881572T>C, NC_000007.13:g.75510890T>C, NG_051655.2:g.7540T>C, NG_051655.1:g.7581T>C, NW_003871064.1:g.3410808T>C

Select item 148643101019.

rs1486431010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:75882441 (GRCh38)
7:75511759 (GRCh37)
Canonical SPDI:: NC_000007.14:75882440:C:A,NC_000007.14:75882440:C:T
Gene:: RHBDD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.75882441C>A, NC_000007.14:g.75882441C>T, NC_000007.13:g.75511759C>A, NC_000007.13:g.75511759C>T, NG_051655.2:g.8409C>A, NG_051655.2:g.8409C>T, NG_051655.1:g.8450C>A, NG_051655.1:g.8450C>T, NW_003871064.1:g.3411677C>A, NW_003871064.1:g.3411677C>T

Select item 148622208520.

rs1486222085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:75884943 (GRCh38)
7:75514261 (GRCh37)
Canonical SPDI:: NC_000007.14:75884942:A:C,NC_000007.14:75884942:A:G
Gene:: RHBDD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.75884943A>C, NC_000007.14:g.75884943A>G, NC_000007.13:g.75514261A>C, NC_000007.13:g.75514261A>G, NG_051655.2:g.10911A>C, NG_051655.2:g.10911A>G, NG_051655.1:g.10952A>C, NG_051655.1:g.10952A>G, NW_003871064.1:g.3414179A>C, NW_003871064.1:g.3414179A>G

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