SNP Links for Gene (Select 629) - SNP

Links from Gene

Items: 1 to 20 of 2246

<< First< Prev

Page of 113

Next >Last >>

Select item 14908419171.

rs1490841917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31944447 (GRCh38)
6:31912224 (GRCh37)
Canonical SPDI:: NC_000006.12:31944446:C:T
Gene:: CFB (Varview), C2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31944447C>T, NC_000006.11:g.31912224C>T, NG_011730.1:g.21959C>T, NG_008191.1:g.3504C>T, NT_113891.3:g.3421874C>T, NT_113891.2:g.3421980C>T, NT_167248.2:g.3200422C>T, NT_167248.1:g.3206018C>T, NT_167245.2:g.3192227C>T, NT_167245.1:g.3197812C>T, NT_167249.2:g.3245636C>T, NT_167249.1:g.3244934C>T, NT_167247.2:g.3286483C>T, NT_167247.1:g.3292068C>T, NT_167246.2:g.3249424C>T, NT_167246.1:g.3255044C>T

Select item 14897960332.

rs1489796033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31952153 (GRCh38)
6:31919930 (GRCh37)
Canonical SPDI:: NC_000006.12:31952152:T:C
Gene:: CFB (Varview), NELFE (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_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_000006.12:g.31952153T>C, NC_000006.11:g.31919930T>C, NG_008191.1:g.11210T>C, NT_113891.3:g.3429580T>C, NT_113891.2:g.3429686T>C, NT_167249.2:g.3253342T>C, NT_167249.1:g.3252640T>C, NT_167248.2:g.3208128T>C, NT_167248.1:g.3213724T>C, NT_167247.2:g.3294189T>C, NT_167247.1:g.3299774T>C, NT_167245.2:g.3199933T>C, NT_167245.1:g.3205518T>C, NM_002904.6:c.*148A>G, NM_002904.5:c.*148A>G, XM_006715205.4:c.*148A>G, XM_006715205.1:c.*148A>G, XM_011514913.4:c.*148A>G, XM_047419355.1:c.*148A>G, XM_047419354.1:c.*148A>G, XM_047419356.1:c.*148A>G

Select item 14895045303.

rs1489504530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:31950677 (GRCh38)
6:31918454 (GRCh37)
Canonical SPDI:: NC_000006.12:31950676:T:A
Gene:: CFB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.31950677T>A, NC_000006.11:g.31918454T>A, NG_008191.1:g.9734T>A, NM_001710.6:c.1683T>A, NM_001710.5:c.1683T>A, NT_113891.3:g.3428104T>A, NT_113891.2:g.3428210T>A, NT_167249.2:g.3251866T>A, NT_167249.1:g.3251164T>A, NT_167248.2:g.3206652T>A, NT_167248.1:g.3212248T>A, NT_167247.2:g.3292713T>A, NT_167247.1:g.3298298T>A, NT_167245.2:g.3198457T>A, NT_167245.1:g.3204042T>A, NT_167246.2:g.3255656T>A, NT_167246.1:g.3261276T>A

Select item 14893303594.

rs1489330359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31946620 (GRCh38)
6:31914397 (GRCh37)
Canonical SPDI:: NC_000006.12:31946619:G:A
Gene:: CFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31946620G>A, NC_000006.11:g.31914397G>A, NG_011730.1:g.24132G>A, NG_008191.1:g.5677G>A, NT_113891.3:g.3424047G>A, NT_113891.2:g.3424153G>A, NT_167248.2:g.3202595G>A, NT_167248.1:g.3208191G>A, NT_167245.2:g.3194400G>A, NT_167245.1:g.3199985G>A, NT_167249.2:g.3247809G>A, NT_167249.1:g.3247107G>A, NT_167247.2:g.3288656G>A, NT_167247.1:g.3294241G>A, NT_167246.2:g.3251597G>A, NT_167246.1:g.3257217G>A

Select item 14886773225.

rs1488677322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31950759 (GRCh38)
6:31918536 (GRCh37)
Canonical SPDI:: NC_000006.12:31950758:G:A
Gene:: CFB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000006.12:g.31950759G>A, NC_000006.11:g.31918536G>A, NG_008191.1:g.9816G>A, NM_001710.6:c.1765G>A, NM_001710.5:c.1765G>A, NT_113891.3:g.3428186G>A, NT_113891.2:g.3428292G>A, NT_167249.2:g.3251948G>A, NT_167249.1:g.3251246G>A, NT_167248.2:g.3206734G>A, NT_167248.1:g.3212330G>A, NT_167247.2:g.3292795G>A, NT_167247.1:g.3298380G>A, NT_167245.2:g.3198539G>A, NT_167245.1:g.3204124G>A, NT_167246.2:g.3255738G>A, NT_167246.1:g.3261358G>A, NP_001701.2:p.Gly589Ser

Select item 14885385026.

rs1488538502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31944328 (GRCh38)
6:31912105 (GRCh37)
Canonical SPDI:: NC_000006.12:31944327:T:C
Gene:: CFB (Varview), C2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31944328T>C, NC_000006.11:g.31912105T>C, NG_011730.1:g.21840T>C, NG_008191.1:g.3385T>C, NT_113891.3:g.3421755T>C, NT_113891.2:g.3421861T>C, NT_167248.2:g.3200303T>C, NT_167248.1:g.3205899T>C, NT_167245.2:g.3192108T>C, NT_167245.1:g.3197693T>C, NT_167249.2:g.3245517T>C, NT_167249.1:g.3244815T>C, NT_167247.2:g.3286364T>C, NT_167247.1:g.3291949T>C, NT_167246.2:g.3249305T>C, NT_167246.1:g.3254925T>C

Select item 14884441417.

rs1488444141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31946920 (GRCh38)
6:31914697 (GRCh37)
Canonical SPDI:: NC_000006.12:31946919:C:T
Gene:: CFB (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.31946920C>T, NC_000006.11:g.31914697C>T, NG_011730.1:g.24432C>T, NG_008191.1:g.5977C>T, NT_113891.3:g.3424347C>T, NT_113891.2:g.3424453C>T, NT_167248.2:g.3202895C>T, NT_167248.1:g.3208491C>T, NT_167245.2:g.3194700C>T, NT_167245.1:g.3200285C>T, NT_167249.2:g.3248109C>T, NT_167249.1:g.3247407C>T, NT_167247.2:g.3288956C>T, NT_167247.1:g.3294541C>T, NT_167246.2:g.3251897C>T, NT_167246.1:g.3257517C>T

Select item 14879943678.

rs1487994367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31948347 (GRCh38)
6:31916124 (GRCh37)
Canonical SPDI:: NC_000006.12:31948346:A:G
Gene:: CFB (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_000006.12:g.31948347A>G, NC_000006.11:g.31916124A>G, NG_008191.1:g.7404A>G, NT_113891.3:g.3425774A>G, NT_113891.2:g.3425880A>G, NT_167249.2:g.3249536A>G, NT_167249.1:g.3248834A>G, NT_167248.2:g.3204322A>G, NT_167248.1:g.3209918A>G, NT_167247.2:g.3290383A>G, NT_167247.1:g.3295968A>G, NT_167245.2:g.3196127A>G, NT_167245.1:g.3201712A>G, NT_167246.2:g.3253324A>G, NT_167246.1:g.3258944A>G

Select item 14878678549.

rs1487867854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31947505 (GRCh38)
6:31915282 (GRCh37)
Canonical SPDI:: NC_000006.12:31947504:G:A
Gene:: CFB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31947505G>A, NC_000006.11:g.31915282G>A, NG_011730.1:g.25017G>A, NG_008191.1:g.6562G>A, NM_001710.6:c.642G>A, NM_001710.5:c.642G>A, NT_113891.3:g.3424932G>A, NT_113891.2:g.3425038G>A, NT_167248.2:g.3203480G>A, NT_167248.1:g.3209076G>A, NT_167245.2:g.3195285G>A, NT_167245.1:g.3200870G>A, NT_167249.2:g.3248694G>A, NT_167249.1:g.3247992G>A, NT_167247.2:g.3289541G>A, NT_167247.1:g.3295126G>A, NT_167246.2:g.3252482G>A, NT_167246.1:g.3258102G>A

Select item 148757284410.

rs1487572844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31949085 (GRCh38)
6:31916862 (GRCh37)
Canonical SPDI:: NC_000006.12:31949084:T:C
Gene:: CFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000006.12:g.31949085T>C, NC_000006.11:g.31916862T>C, NG_008191.1:g.8142T>C, NT_113891.3:g.3426512T>C, NT_113891.2:g.3426618T>C, NT_167249.2:g.3250274T>C, NT_167249.1:g.3249572T>C, NT_167248.2:g.3205060T>C, NT_167248.1:g.3210656T>C, NT_167247.2:g.3291121T>C, NT_167247.1:g.3296706T>C, NT_167245.2:g.3196865T>C, NT_167245.1:g.3202450T>C, NT_167246.2:g.3254062T>C, NT_167246.1:g.3259682T>C

Select item 148754070411.

rs1487540704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31947131 (GRCh38)
6:31914908 (GRCh37)
Canonical SPDI:: NC_000006.12:31947130:C:T
Gene:: CFB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000006.12:g.31947131C>T, NC_000006.11:g.31914908C>T, NG_011730.1:g.24643C>T, NG_008191.1:g.6188C>T, NM_001710.6:c.423C>T, NM_001710.5:c.423C>T, NT_113891.3:g.3424558C>T, NT_113891.2:g.3424664C>T, NT_167248.2:g.3203106C>T, NT_167248.1:g.3208702C>T, NT_167245.2:g.3194911C>T, NT_167245.1:g.3200496C>T, NT_167249.2:g.3248320C>T, NT_167249.1:g.3247618C>T, NT_167247.2:g.3289167C>T, NT_167247.1:g.3294752C>T, NT_167246.2:g.3252108C>T, NT_167246.1:g.3257728C>T

Select item 148639373912.

rs1486393739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31944512 (GRCh38)
6:31912289 (GRCh37)
Canonical SPDI:: NC_000006.12:31944511:G:C
Gene:: CFB (Varview), C2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31944512G>C, NC_000006.11:g.31912289G>C, NG_011730.1:g.22024G>C, NG_008191.1:g.3569G>C, NT_113891.3:g.3421939G>C, NT_113891.2:g.3422045G>C, NT_167248.2:g.3200487G>C, NT_167248.1:g.3206083G>C, NT_167245.2:g.3192292G>C, NT_167245.1:g.3197877G>C, NT_167249.2:g.3245701G>C, NT_167249.1:g.3244999G>C, NT_167247.2:g.3286548G>C, NT_167247.1:g.3292133G>C, NT_167246.2:g.3249489G>C, NT_167246.1:g.3255109G>C

Select item 148606661613.

rs1486066616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31947567 (GRCh38)
6:31915344 (GRCh37)
Canonical SPDI:: NC_000006.12:31947566:C:T
Gene:: CFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31947567C>T, NC_000006.11:g.31915344C>T, NG_011730.1:g.25079C>T, NG_008191.1:g.6624C>T, NT_113891.3:g.3424994C>T, NT_113891.2:g.3425100C>T, NT_167248.2:g.3203542C>T, NT_167248.1:g.3209138C>T, NT_167245.2:g.3195347C>T, NT_167245.1:g.3200932C>T, NT_167249.2:g.3248756C>T, NT_167249.1:g.3248054C>T, NT_167247.2:g.3289603C>T, NT_167247.1:g.3295188C>T, NT_167246.2:g.3252544C>T, NT_167246.1:g.3258164C>T

Select item 148560634614.

rs1485606346 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:31947899 (GRCh38)
6:31915676 (GRCh37)
Canonical SPDI:: NC_000006.12:31947898:A:T
Gene:: CFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.31947899A>T, NC_000006.11:g.31915676A>T, NG_008191.1:g.6956A>T, NT_113891.3:g.3425326A>T, NT_113891.2:g.3425432A>T, NT_167249.2:g.3249088A>T, NT_167249.1:g.3248386A>T, NT_167248.2:g.3203874A>T, NT_167248.1:g.3209470A>T, NT_167247.2:g.3289935A>T, NT_167247.1:g.3295520A>T, NT_167245.2:g.3195679A>T, NT_167245.1:g.3201264A>T, NT_167246.2:g.3252876A>T, NT_167246.1:g.3258496A>T

Select item 148540233415.

rs1485402334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31950801 (GRCh38)
6:31918578 (GRCh37)
Canonical SPDI:: NC_000006.12:31950800:G:A
Gene:: CFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.31950801G>A, NC_000006.11:g.31918578G>A, NG_008191.1:g.9858G>A, NT_113891.3:g.3428228G>A, NT_113891.2:g.3428334G>A, NT_167249.2:g.3251990G>A, NT_167249.1:g.3251288G>A, NT_167248.2:g.3206776G>A, NT_167248.1:g.3212372G>A, NT_167247.2:g.3292837G>A, NT_167247.1:g.3298422G>A, NT_167245.2:g.3198581G>A, NT_167245.1:g.3204166G>A

Select item 148498137716.

rs1484981377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31947959 (GRCh38)
6:31915736 (GRCh37)
Canonical SPDI:: NC_000006.12:31947958:C:T
Gene:: CFB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31947959C>T, NC_000006.11:g.31915736C>T, NG_008191.1:g.7016C>T, NM_001710.6:c.775C>T, NM_001710.5:c.775C>T, NT_113891.3:g.3425386C>T, NT_113891.2:g.3425492C>T, NT_167249.2:g.3249148C>T, NT_167249.1:g.3248446C>T, NT_167248.2:g.3203934C>T, NT_167248.1:g.3209530C>T, NT_167247.2:g.3289995C>T, NT_167247.1:g.3295580C>T, NT_167245.2:g.3195739C>T, NT_167245.1:g.3201324C>T, NT_167246.2:g.3252936C>T, NT_167246.1:g.3258556C>T, NP_001701.2:p.Arg259Trp

Select item 148451570917.

rs1484515709 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 6:31950037 (GRCh38)
6:31917814 (GRCh37)
Canonical SPDI:: NC_000006.12:31950034:CTCCT:CT
Gene:: CFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31950037_31950039del, NC_000006.11:g.31917814_31917816del, NG_008191.1:g.9094_9096del, NT_113891.3:g.3427464_3427466del, NT_113891.2:g.3427570_3427572del, NT_167249.2:g.3251226_3251228del, NT_167249.1:g.3250524_3250526del, NT_167248.2:g.3206012_3206014del, NT_167248.1:g.3211608_3211610del, NT_167247.2:g.3292073_3292075del, NT_167247.1:g.3297658_3297660del, NT_167245.2:g.3197817_3197819del, NT_167245.1:g.3203402_3203404del, NT_167246.2:g.3255016_3255018del, NT_167246.1:g.3260636_3260638del

Select item 148390891418.

rs1483908914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31949576 (GRCh38)
6:31917353 (GRCh37)
Canonical SPDI:: NC_000006.12:31949575:A:C
Gene:: CFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31949576A>C, NC_000006.11:g.31917353A>C, NG_008191.1:g.8633A>C, NT_113891.3:g.3427003A>C, NT_113891.2:g.3427109A>C, NT_167249.2:g.3250765A>C, NT_167249.1:g.3250063A>C, NT_167248.2:g.3205551A>C, NT_167248.1:g.3211147A>C, NT_167247.2:g.3291612A>C, NT_167247.1:g.3297197A>C, NT_167245.2:g.3197356A>C, NT_167245.1:g.3202941A>C, NT_167246.2:g.3254553A>C, NT_167246.1:g.3260173A>C

Select item 148385834619.

rs1483858346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31950835 (GRCh38)
6:31918612 (GRCh37)
Canonical SPDI:: NC_000006.12:31950834:G:A
Gene:: CFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.31950835G>A, NC_000006.11:g.31918612G>A, NG_008191.1:g.9892G>A, NT_113891.3:g.3428262G>A, NT_113891.2:g.3428368G>A, NT_167249.2:g.3252024G>A, NT_167249.1:g.3251322G>A, NT_167248.2:g.3206810G>A, NT_167248.1:g.3212406G>A, NT_167247.2:g.3292871G>A, NT_167247.1:g.3298456G>A, NT_167245.2:g.3198615G>A, NT_167245.1:g.3204200G>A

Select item 148353191220.

rs1483531912 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCA [Show Flanks]
Chromosome:: 6:31950481 (GRCh38)
6:31918259 (GRCh37)
Canonical SPDI:: NC_000006.12:31950481:CCACCCA:CCACCCACCCA
Gene:: CFB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CCAC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31950485_31950488dup, NC_000006.11:g.31918262_31918265dup, NG_008191.1:g.9542_9545dup, NT_113891.3:g.3427912_3427915dup, NT_113891.2:g.3428018_3428021dup, NT_167249.2:g.3251674_3251677dup, NT_167249.1:g.3250972_3250975dup, NT_167248.2:g.3206460_3206463dup, NT_167248.1:g.3212056_3212059dup, NT_167247.2:g.3292521_3292524dup, NT_167247.1:g.3298106_3298109dup, NT_167245.2:g.3198265_3198268dup, NT_167245.1:g.3203850_3203853dup, NT_167246.2:g.3255464_3255467dup, NT_167246.1:g.3261084_3261087dup

<< First< Prev

Page of 113

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 2246

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity