SNP Links for Nucleotide (Select 916404478) - SNP

Select item 14888353721.

rs1488835372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:196957982 (GRCh38)
1:196927112 (GRCh37)
Canonical SPDI:: NC_000001.11:196957981:T:C
Gene:: CFHR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.196957982T>C, NC_000001.10:g.196927112T>C, NG_042816.1:g.19215T>C, NM_005666.4:c.522T>C, NM_005666.3:c.522T>C, NM_005666.2:c.522T>C, NM_001312672.1:c.150T>C, NW_025791754.1:g.723108T>C, XM_005245113.4:c.327T>C, XM_011509459.3:c.462T>C, XM_011509459.2:c.462T>C, XM_011509459.1:c.462T>C, XM_011509458.3:c.510T>C, XM_011509458.2:c.510T>C, XM_011509458.1:c.510T>C, XM_011509460.3:c.315T>C, XM_011509460.2:c.315T>C, XM_011509460.1:c.315T>C, XM_017001109.2:c.345T>C, XM_017001109.1:c.345T>C, NM_001410924.1:c.327T>C

Select item 14816597362.

rs1481659736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:196958047 (GRCh38)
1:196927177 (GRCh37)
Canonical SPDI:: NC_000001.11:196958046:A:T
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196958047A>T, NC_000001.10:g.196927177A>T, NG_042816.1:g.19280A>T, NM_005666.4:c.587A>T, NM_005666.3:c.587A>T, NM_005666.2:c.587A>T, NM_001312672.1:c.215A>T, NW_025791754.1:g.723173A>T, XM_005245113.4:c.392A>T, XM_011509459.3:c.527A>T, XM_011509459.2:c.527A>T, XM_011509459.1:c.527A>T, XM_011509458.3:c.575A>T, XM_011509458.2:c.575A>T, XM_011509458.1:c.575A>T, XM_011509460.3:c.380A>T, XM_011509460.2:c.380A>T, XM_011509460.1:c.380A>T, XM_017001109.2:c.410A>T, XM_017001109.1:c.410A>T, NM_001410924.1:c.392A>T, NP_005657.1:p.Gln196Leu, NP_001299601.1:p.Gln72Leu, XP_005245170.1:p.Gln131Leu, XP_011507761.1:p.Gln176Leu, XP_011507760.1:p.Gln192Leu, XP_011507762.1:p.Gln127Leu, XP_016856598.1:p.Gln137Leu

Select item 14761830563.

rs1476183056 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:196943911 (GRCh38)
1:196913041 (GRCh37)
Canonical SPDI:: NC_000001.11:196943910:T:C
Gene:: CFHR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.0001/3 (GnomAD)
C=0.00013/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196943911T>C, NC_000001.10:g.196913041T>C, NG_042816.1:g.5144T>C, NM_005666.4:c.31T>C, NM_005666.3:c.31T>C, NM_005666.2:c.31T>C, NM_001312672.1:c.31T>C, NW_025791754.1:g.709034T>C, XM_005245113.4:c.31T>C, XM_011509459.3:c.-49T>C, XM_011509459.2:c.-49T>C, XM_011509459.1:c.-49T>C, XM_011509458.3:c.31T>C, XM_011509458.2:c.31T>C, XM_011509458.1:c.31T>C, XM_011509460.3:c.31T>C, XM_011509460.2:c.31T>C, XM_011509460.1:c.31T>C, XM_017001109.2:c.31T>C, XM_017001109.1:c.31T>C, NM_001410924.1:c.31T>C, NP_005657.1:p.Ser11Pro, NP_001299601.1:p.Ser11Pro, XP_005245170.1:p.Ser11Pro, XP_011507760.1:p.Ser11Pro, XP_011507762.1:p.Ser11Pro, XP_016856598.1:p.Ser11Pro

Select item 14738631824.

rs1473863182 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:196959089 (GRCh38)
1:196928219 (GRCh37)
Canonical SPDI:: NC_000001.11:196959088:G:T
Gene:: CFHR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196959089G>T, NC_000001.10:g.196928219G>T, NG_042816.1:g.20322G>T, NM_005666.4:c.*9G>T, NM_005666.3:c.*9G>T, NM_005666.2:c.*9G>T, NM_001312672.1:c.*9G>T, NW_025791754.1:g.724215G>T, XM_005245113.4:c.*9G>T, XM_011509459.3:c.*9G>T, XM_011509459.2:c.*9G>T, XM_011509459.1:c.*9G>T, XM_011509458.3:c.*9G>T, XM_011509458.2:c.*9G>T, XM_011509458.1:c.*9G>T, XM_011509460.3:c.*9G>T, XM_011509460.2:c.*9G>T, XM_011509460.1:c.*9G>T, XM_017001109.2:c.*9G>T, XM_017001109.1:c.*9G>T, NM_001410924.1:c.*9G>T

Select item 14717986015.

rs1471798601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:196958059 (GRCh38)
1:196927189 (GRCh37)
Canonical SPDI:: NC_000001.11:196958058:C:T
Gene:: CFHR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196958059C>T, NC_000001.10:g.196927189C>T, NG_042816.1:g.19292C>T, NM_005666.4:c.599C>T, NM_005666.3:c.599C>T, NM_005666.2:c.599C>T, NM_001312672.1:c.227C>T, NW_025791754.1:g.723185C>T, XM_005245113.4:c.404C>T, XM_011509459.3:c.539C>T, XM_011509459.2:c.539C>T, XM_011509459.1:c.539C>T, XM_011509458.3:c.587C>T, XM_011509458.2:c.587C>T, XM_011509458.1:c.587C>T, XM_011509460.3:c.392C>T, XM_011509460.2:c.392C>T, XM_011509460.1:c.392C>T, XM_017001109.2:c.422C>T, XM_017001109.1:c.422C>T, NM_001410924.1:c.404C>T, NP_005657.1:p.Pro200Leu, NP_001299601.1:p.Pro76Leu, XP_005245170.1:p.Pro135Leu, XP_011507761.1:p.Pro180Leu, XP_011507760.1:p.Pro196Leu, XP_011507762.1:p.Pro131Leu, XP_016856598.1:p.Pro141Leu

Select item 14674894546.

rs1467489454 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:196959166 (GRCh38)
1:196928296 (GRCh37)
Canonical SPDI:: NC_000001.11:196959164:TGT:T
Gene:: CFHR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.196959166_196959167del, NC_000001.10:g.196928296_196928297del, NG_042816.1:g.20399_20400del, NM_005666.4:c.*86_*87del, NM_005666.3:c.*86_*87del, NM_005666.2:c.*86_*87del, NM_001312672.1:c.*86_*87del, NW_025791754.1:g.724292_724293del, XM_005245113.4:c.*86_*87del, XM_011509459.3:c.*86_*87del, XM_011509459.2:c.*86_*87del, XM_011509459.1:c.*86_*87del, XM_011509458.3:c.*86_*87del, XM_011509458.2:c.*86_*87del, XM_011509458.1:c.*86_*87del, XM_011509460.3:c.*86_*87del, XM_011509460.2:c.*86_*87del, XM_011509460.1:c.*86_*87del, XM_017001109.2:c.*86_*87del, XM_017001109.1:c.*86_*87del, NM_001410924.1:c.*86_*87del

Select item 14674274537.

rs1467427453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:196943855 (GRCh38)
1:196912985 (GRCh37)
Canonical SPDI:: NC_000001.11:196943854:G:A
Gene:: CFHR2 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/3 (ALFA)
A=0.00032/7 (GnomAD)
A=0.00051/16 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196943855G>A, NC_000001.10:g.196912985G>A, NG_042816.1:g.5088G>A, NM_005666.4:c.-26G>A, NM_005666.3:c.-26G>A, NM_005666.2:c.-26G>A, NM_001312672.1:c.-26G>A, NW_025791754.1:g.708978G>A, XM_005245113.4:c.-26G>A, XM_011509459.3:c.-105G>A, XM_011509459.2:c.-105G>A, XM_011509459.1:c.-105G>A, XM_011509458.3:c.-26G>A, XM_011509458.2:c.-26G>A, XM_011509458.1:c.-26G>A, XM_011509460.3:c.-26G>A, XM_011509460.2:c.-26G>A, XM_011509460.1:c.-26G>A, XM_017001109.2:c.-26G>A, XM_017001109.1:c.-26G>A, NM_001410924.1:c.-26G>A

Select item 14579699718.

rs1457969971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:196958016 (GRCh38)
1:196927146 (GRCh37)
Canonical SPDI:: NC_000001.11:196958015:G:A
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196958016G>A, NC_000001.10:g.196927146G>A, NG_042816.1:g.19249G>A, NM_005666.4:c.556G>A, NM_005666.3:c.556G>A, NM_005666.2:c.556G>A, NM_001312672.1:c.184G>A, NW_025791754.1:g.723142G>A, XM_005245113.4:c.361G>A, XM_011509459.3:c.496G>A, XM_011509459.2:c.496G>A, XM_011509459.1:c.496G>A, XM_011509458.3:c.544G>A, XM_011509458.2:c.544G>A, XM_011509458.1:c.544G>A, XM_011509460.3:c.349G>A, XM_011509460.2:c.349G>A, XM_011509460.1:c.349G>A, XM_017001109.2:c.379G>A, XM_017001109.1:c.379G>A, NM_001410924.1:c.361G>A, NP_005657.1:p.Gly186Ser, NP_001299601.1:p.Gly62Ser, XP_005245170.1:p.Gly121Ser, XP_011507761.1:p.Gly166Ser, XP_011507760.1:p.Gly182Ser, XP_011507762.1:p.Gly117Ser, XP_016856598.1:p.Gly127Ser

Select item 14562000939.

rs1456200093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:196943920 (GRCh38)
1:196913050 (GRCh37)
Canonical SPDI:: NC_000001.11:196943919:T:A
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
A=0.00006/2 (GnomAD)
HGVS:: NC_000001.11:g.196943920T>A, NC_000001.10:g.196913050T>A, NG_042816.1:g.5153T>A, NM_005666.4:c.40T>A, NM_005666.3:c.40T>A, NM_005666.2:c.40T>A, NM_001312672.1:c.40T>A, NW_025791754.1:g.709043T>A, XM_005245113.4:c.40T>A, XM_011509459.3:c.-40T>A, XM_011509459.2:c.-40T>A, XM_011509459.1:c.-40T>A, XM_011509458.3:c.40T>A, XM_011509458.2:c.40T>A, XM_011509458.1:c.40T>A, XM_011509460.3:c.40T>A, XM_011509460.2:c.40T>A, XM_011509460.1:c.40T>A, XM_017001109.2:c.40T>A, XM_017001109.1:c.40T>A, NM_001410924.1:c.40T>A, NP_005657.1:p.Ser14Thr, NP_001299601.1:p.Ser14Thr, XP_005245170.1:p.Ser14Thr, XP_011507760.1:p.Ser14Thr, XP_011507762.1:p.Ser14Thr, XP_016856598.1:p.Ser14Thr

Select item 145599859410.

rs1455998594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:196958006 (GRCh38)
1:196927136 (GRCh37)
Canonical SPDI:: NC_000001.11:196958005:T:A,NC_000001.11:196958005:T:C
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.196958006T>A, NC_000001.11:g.196958006T>C, NC_000001.10:g.196927136T>A, NC_000001.10:g.196927136T>C, NG_042816.1:g.19239T>A, NG_042816.1:g.19239T>C, NM_005666.4:c.546T>A, NM_005666.4:c.546T>C, NM_005666.3:c.546T>A, NM_005666.3:c.546T>C, NM_005666.2:c.546T>A, NM_005666.2:c.546T>C, NM_001312672.1:c.174T>A, NM_001312672.1:c.174T>C, NW_025791754.1:g.723132T>A, NW_025791754.1:g.723132T>C, XM_005245113.4:c.351T>A, XM_005245113.4:c.351T>C, XM_011509459.3:c.486T>A, XM_011509459.3:c.486T>C, XM_011509459.2:c.486T>A, XM_011509459.2:c.486T>C, XM_011509459.1:c.486T>A, XM_011509459.1:c.486T>C, XM_011509458.3:c.534T>A, XM_011509458.3:c.534T>C, XM_011509458.2:c.534T>A, XM_011509458.2:c.534T>C, XM_011509458.1:c.534T>A, XM_011509458.1:c.534T>C, XM_011509460.3:c.339T>A, XM_011509460.3:c.339T>C, XM_011509460.2:c.339T>A, XM_011509460.2:c.339T>C, XM_011509460.1:c.339T>A, XM_011509460.1:c.339T>C, XM_017001109.2:c.369T>A, XM_017001109.2:c.369T>C, XM_017001109.1:c.369T>A, XM_017001109.1:c.369T>C, NM_001410924.1:c.351T>A, NM_001410924.1:c.351T>C, NP_005657.1:p.Tyr182Ter, NP_001299601.1:p.Tyr58Ter, XP_005245170.1:p.Tyr117Ter, XP_011507761.1:p.Tyr162Ter, XP_011507760.1:p.Tyr178Ter, XP_011507762.1:p.Tyr113Ter, XP_016856598.1:p.Tyr123Ter

Select item 145481079411.

rs1454810794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:196943897 (GRCh38)
1:196913027 (GRCh37)
Canonical SPDI:: NC_000001.11:196943896:G:T
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.196943897G>T, NC_000001.10:g.196913027G>T, NG_042816.1:g.5130G>T, NM_005666.4:c.17G>T, NM_005666.3:c.17G>T, NM_005666.2:c.17G>T, NM_001312672.1:c.17G>T, NW_025791754.1:g.709020G>T, XM_005245113.4:c.17G>T, XM_011509459.3:c.-63G>T, XM_011509459.2:c.-63G>T, XM_011509459.1:c.-63G>T, XM_011509458.3:c.17G>T, XM_011509458.2:c.17G>T, XM_011509458.1:c.17G>T, XM_011509460.3:c.17G>T, XM_011509460.2:c.17G>T, XM_011509460.1:c.17G>T, XM_017001109.2:c.17G>T, XM_017001109.1:c.17G>T, NM_001410924.1:c.17G>T, NP_005657.1:p.Ser6Ile, NP_001299601.1:p.Ser6Ile, XP_005245170.1:p.Ser6Ile, XP_011507760.1:p.Ser6Ile, XP_011507762.1:p.Ser6Ile, XP_016856598.1:p.Ser6Ile

Select item 145158639312.

rs1451586393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:196959023 (GRCh38)
1:196928153 (GRCh37)
Canonical SPDI:: NC_000001.11:196959022:A:G
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.196959023A>G, NC_000001.10:g.196928153A>G, NG_042816.1:g.20256A>G, NM_005666.4:c.756A>G, NM_005666.3:c.756A>G, NM_005666.2:c.756A>G, NM_001312672.1:c.384A>G, NW_025791754.1:g.724149A>G, XM_005245113.4:c.561A>G, XM_011509459.3:c.696A>G, XM_011509459.2:c.696A>G, XM_011509459.1:c.696A>G, XM_011509458.3:c.744A>G, XM_011509458.2:c.744A>G, XM_011509458.1:c.744A>G, XM_011509460.3:c.549A>G, XM_011509460.2:c.549A>G, XM_011509460.1:c.549A>G, XM_017001109.2:c.579A>G, XM_017001109.1:c.579A>G, NM_001410924.1:c.561A>G

Select item 144645398813.

rs1446453988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:196943912 (GRCh38)
1:196913042 (GRCh37)
Canonical SPDI:: NC_000001.11:196943911:C:T
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.196943912C>T, NC_000001.10:g.196913042C>T, NG_042816.1:g.5145C>T, NM_005666.4:c.32C>T, NM_005666.3:c.32C>T, NM_005666.2:c.32C>T, NM_001312672.1:c.32C>T, NW_025791754.1:g.709035C>T, XM_005245113.4:c.32C>T, XM_011509459.3:c.-48C>T, XM_011509459.2:c.-48C>T, XM_011509459.1:c.-48C>T, XM_011509458.3:c.32C>T, XM_011509458.2:c.32C>T, XM_011509458.1:c.32C>T, XM_011509460.3:c.32C>T, XM_011509460.2:c.32C>T, XM_011509460.1:c.32C>T, XM_017001109.2:c.32C>T, XM_017001109.1:c.32C>T, NM_001410924.1:c.32C>T, NP_005657.1:p.Ser11Leu, NP_001299601.1:p.Ser11Leu, XP_005245170.1:p.Ser11Leu, XP_011507760.1:p.Ser11Leu, XP_011507762.1:p.Ser11Leu, XP_016856598.1:p.Ser11Leu

Select item 144603429614.

rs1446034296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:196958067 (GRCh38)
1:196927197 (GRCh37)
Canonical SPDI:: NC_000001.11:196958066:T:A
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.196958067T>A, NC_000001.10:g.196927197T>A, NG_042816.1:g.19300T>A, NM_005666.4:c.607T>A, NM_005666.3:c.607T>A, NM_005666.2:c.607T>A, NM_001312672.1:c.235T>A, NW_025791754.1:g.723193T>A, XM_005245113.4:c.412T>A, XM_011509459.3:c.547T>A, XM_011509459.2:c.547T>A, XM_011509459.1:c.547T>A, XM_011509458.3:c.595T>A, XM_011509458.2:c.595T>A, XM_011509458.1:c.595T>A, XM_011509460.3:c.400T>A, XM_011509460.2:c.400T>A, XM_011509460.1:c.400T>A, XM_017001109.2:c.430T>A, XM_017001109.1:c.430T>A, NM_001410924.1:c.412T>A, NP_005657.1:p.Cys203Ser, NP_001299601.1:p.Cys79Ser, XP_005245170.1:p.Cys138Ser, XP_011507761.1:p.Cys183Ser, XP_011507760.1:p.Cys199Ser, XP_011507762.1:p.Cys134Ser, XP_016856598.1:p.Cys144Ser

Select item 144475512215.

rs1444755122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:196958997 (GRCh38)
1:196928127 (GRCh37)
Canonical SPDI:: NC_000001.11:196958996:G:A,NC_000001.11:196958996:G:C
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.196958997G>A, NC_000001.11:g.196958997G>C, NC_000001.10:g.196928127G>A, NC_000001.10:g.196928127G>C, NG_042816.1:g.20230G>A, NG_042816.1:g.20230G>C, NM_005666.4:c.730G>A, NM_005666.4:c.730G>C, NM_005666.3:c.730G>A, NM_005666.3:c.730G>C, NM_005666.2:c.730G>A, NM_005666.2:c.730G>C, NM_001312672.1:c.358G>A, NM_001312672.1:c.358G>C, NW_025791754.1:g.724123G>A, NW_025791754.1:g.724123G>C, XM_005245113.4:c.535G>A, XM_005245113.4:c.535G>C, XM_011509459.3:c.670G>A, XM_011509459.3:c.670G>C, XM_011509459.2:c.670G>A, XM_011509459.2:c.670G>C, XM_011509459.1:c.670G>A, XM_011509459.1:c.670G>C, XM_011509458.3:c.718G>A, XM_011509458.3:c.718G>C, XM_011509458.2:c.718G>A, XM_011509458.2:c.718G>C, XM_011509458.1:c.718G>A, XM_011509458.1:c.718G>C, XM_011509460.3:c.523G>A, XM_011509460.3:c.523G>C, XM_011509460.2:c.523G>A, XM_011509460.2:c.523G>C, XM_011509460.1:c.523G>A, XM_011509460.1:c.523G>C, XM_017001109.2:c.553G>A, XM_017001109.2:c.553G>C, XM_017001109.1:c.553G>A, XM_017001109.1:c.553G>C, NM_001410924.1:c.535G>A, NM_001410924.1:c.535G>C, NP_005657.1:p.Gly244Arg, NP_005657.1:p.Gly244Arg, NP_001299601.1:p.Gly120Arg, NP_001299601.1:p.Gly120Arg, XP_005245170.1:p.Gly179Arg, XP_005245170.1:p.Gly179Arg, XP_011507761.1:p.Gly224Arg, XP_011507761.1:p.Gly224Arg, XP_011507760.1:p.Gly240Arg, XP_011507760.1:p.Gly240Arg, XP_011507762.1:p.Gly175Arg, XP_011507762.1:p.Gly175Arg, XP_016856598.1:p.Gly185Arg, XP_016856598.1:p.Gly185Arg

Select item 144218238416.

rs1442182384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:196958910 (GRCh38)
1:196928040 (GRCh37)
Canonical SPDI:: NC_000001.11:196958909:G:T
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000001.11:g.196958910G>T, NC_000001.10:g.196928040G>T, NG_042816.1:g.20143G>T, NM_005666.4:c.643G>T, NM_005666.3:c.643G>T, NM_005666.2:c.643G>T, NM_001312672.1:c.271G>T, NW_025791754.1:g.724036G>T, XM_005245113.4:c.448G>T, XM_011509459.3:c.583G>T, XM_011509459.2:c.583G>T, XM_011509459.1:c.583G>T, XM_011509458.3:c.631G>T, XM_011509458.2:c.631G>T, XM_011509458.1:c.631G>T, XM_011509460.3:c.436G>T, XM_011509460.2:c.436G>T, XM_011509460.1:c.436G>T, XM_017001109.2:c.466G>T, XM_017001109.1:c.466G>T, NM_001410924.1:c.448G>T, NP_005657.1:p.Glu215Ter, NP_001299601.1:p.Glu91Ter, XP_005245170.1:p.Glu150Ter, XP_011507761.1:p.Glu195Ter, XP_011507760.1:p.Glu211Ter, XP_011507762.1:p.Glu146Ter, XP_016856598.1:p.Glu156Ter

Select item 144010563517.

rs1440105635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:196959210 (GRCh38)
1:196928340 (GRCh37)
Canonical SPDI:: NC_000001.11:196959209:T:C
Gene:: CFHR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.196959210T>C, NC_000001.10:g.196928340T>C, NG_042816.1:g.20443T>C, NM_005666.4:c.*130T>C, NM_005666.3:c.*130T>C, NM_005666.2:c.*130T>C, NM_001312672.1:c.*130T>C, NW_025791754.1:g.724336T>C, XM_005245113.4:c.*130T>C, XM_011509459.3:c.*130T>C, XM_011509459.2:c.*130T>C, XM_011509459.1:c.*130T>C, XM_011509458.3:c.*130T>C, XM_011509458.2:c.*130T>C, XM_011509458.1:c.*130T>C, XM_011509460.3:c.*130T>C, XM_011509460.2:c.*130T>C, XM_011509460.1:c.*130T>C, XM_017001109.2:c.*130T>C, XM_017001109.1:c.*130T>C, NM_001410924.1:c.*130T>C

Select item 143785621318.

rs1437856213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:196943887 (GRCh38)
1:196913017 (GRCh37)
Canonical SPDI:: NC_000001.11:196943886:C:T
Gene:: CFHR2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (GnomAD)
T=0.00015/5 (GnomAD_exomes)
HGVS:: NC_000001.11:g.196943887C>T, NC_000001.10:g.196913017C>T, NG_042816.1:g.5120C>T, NM_005666.4:c.7C>T, NM_005666.3:c.7C>T, NM_005666.2:c.7C>T, NM_001312672.1:c.7C>T, NW_025791754.1:g.709010C>T, XM_005245113.4:c.7C>T, XM_011509459.3:c.-73C>T, XM_011509459.2:c.-73C>T, XM_011509459.1:c.-73C>T, XM_011509458.3:c.7C>T, XM_011509458.2:c.7C>T, XM_011509458.1:c.7C>T, XM_011509460.3:c.7C>T, XM_011509460.2:c.7C>T, XM_011509460.1:c.7C>T, XM_017001109.2:c.7C>T, XM_017001109.1:c.7C>T, NM_001410924.1:c.7C>T, NP_005657.1:p.Leu3Phe, NP_001299601.1:p.Leu3Phe, XP_005245170.1:p.Leu3Phe, XP_011507760.1:p.Leu3Phe, XP_011507762.1:p.Leu3Phe, XP_016856598.1:p.Leu3Phe

Select item 143535041519.

rs1435350415 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:196959153 (GRCh38)
1:196928283 (GRCh37)
Canonical SPDI:: NC_000001.11:196959152:TTTTT:TTTT
Gene:: CFHR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.196959157del, NC_000001.10:g.196928287del, NG_042816.1:g.20390del, NM_005666.4:c.*77del, NM_005666.3:c.*77del, NM_005666.2:c.*77del, NM_001312672.1:c.*77del, NW_025791754.1:g.724283del, XM_005245113.4:c.*77del, XM_011509459.3:c.*77del, XM_011509459.2:c.*77del, XM_011509459.1:c.*77del, XM_011509458.3:c.*77del, XM_011509458.2:c.*77del, XM_011509458.1:c.*77del, XM_011509460.3:c.*77del, XM_011509460.2:c.*77del, XM_011509460.1:c.*77del, XM_017001109.2:c.*77del, XM_017001109.1:c.*77del, NM_001410924.1:c.*77del

Select item 142637755320.

rs1426377553 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:196959134 (GRCh38)
1:196928264 (GRCh37)
Canonical SPDI:: NC_000001.11:196959133:A:
Gene:: CFHR2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.196959134del, NC_000001.10:g.196928264del, NG_042816.1:g.20367del, NM_005666.4:c.*54del, NM_005666.3:c.*54del, NM_005666.2:c.*54del, NM_001312672.1:c.*54del, NW_025791754.1:g.724260del, XM_005245113.4:c.*54del, XM_011509459.3:c.*54del, XM_011509459.2:c.*54del, XM_011509459.1:c.*54del, XM_011509458.3:c.*54del, XM_011509458.2:c.*54del, XM_011509458.1:c.*54del, XM_011509460.3:c.*54del, XM_011509460.2:c.*54del, XM_011509460.1:c.*54del, XM_017001109.2:c.*54del, XM_017001109.1:c.*54del, NM_001410924.1:c.*54del

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 Nucleotide

Items: 1 to 20 of 205

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Nucleotide

Items: 1 to 20 of 205

Page of 11

Page of 11

Display Settings:

Supplemental Content

Find related data

Recent activity