SNP Links for Gene (Select 161497) - SNP

Links from Gene

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Select item 14915409761.

rs1491540976 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:43608724 (GRCh38)
15:43900922 (GRCh37)
Canonical SPDI:: NC_000015.10:43608723:GA:
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00016/12 (GnomAD)
HGVS:: NC_000015.10:g.43608724_43608725del, NC_000015.9:g.43900922_43900923del, NG_011636.1:g.15076_15077del

Select item 14915171252.

rs1491517125 has merged into rs3987784 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 15:43611016 (GRCh38)
15:43903214 (GRCh37)
Canonical SPDI:: NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000015.10:43611000:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.07174/266 (TWINSUK)
-=0.07966/307 (ALSPAC)
HGVS:: NC_000015.10:g.43611002GT[7], NC_000015.10:g.43611002GT[11], NC_000015.10:g.43611002GT[13], NC_000015.10:g.43611002GT[15], NC_000015.10:g.43611002GT[16], NC_000015.10:g.43611002GT[17], NC_000015.10:g.43611002GT[18], NC_000015.10:g.43611002GT[20], NC_000015.10:g.43611002GT[21], NC_000015.10:g.43611002GT[22], NC_000015.10:g.43611002GT[23], NC_000015.10:g.43611002GT[24], NC_000015.10:g.43611002GT[25], NC_000015.10:g.43611002GT[26], NC_000015.10:g.43611002GT[27], NC_000015.10:g.43611002GT[28], NC_000015.10:g.43611002GT[29], NC_000015.9:g.43903200GT[7], NC_000015.9:g.43903200GT[11], NC_000015.9:g.43903200GT[13], NC_000015.9:g.43903200GT[15], NC_000015.9:g.43903200GT[16], NC_000015.9:g.43903200GT[17], NC_000015.9:g.43903200GT[18], NC_000015.9:g.43903200GT[20], NC_000015.9:g.43903200GT[21], NC_000015.9:g.43903200GT[22], NC_000015.9:g.43903200GT[23], NC_000015.9:g.43903200GT[24], NC_000015.9:g.43903200GT[25], NC_000015.9:g.43903200GT[26], NC_000015.9:g.43903200GT[27], NC_000015.9:g.43903200GT[28], NC_000015.9:g.43903200GT[29], NG_011636.1:g.12763CA[7], NG_011636.1:g.12763CA[11], NG_011636.1:g.12763CA[13], NG_011636.1:g.12763CA[15], NG_011636.1:g.12763CA[16], NG_011636.1:g.12763CA[17], NG_011636.1:g.12763CA[18], NG_011636.1:g.12763CA[20], NG_011636.1:g.12763CA[21], NG_011636.1:g.12763CA[22], NG_011636.1:g.12763CA[23], NG_011636.1:g.12763CA[24], NG_011636.1:g.12763CA[25], NG_011636.1:g.12763CA[26], NG_011636.1:g.12763CA[27], NG_011636.1:g.12763CA[28], NG_011636.1:g.12763CA[29]

Select item 14914945573.

rs1491494557 has merged into rs144553505 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:43608736 (GRCh38)
15:43900934 (GRCh37)
Canonical SPDI:: NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:43608724:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAA=0.000004/1 (TOPMED)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000015.10:g.43608736_43608743del, NC_000015.10:g.43608737_43608743del, NC_000015.10:g.43608739_43608743del, NC_000015.10:g.43608740_43608743del, NC_000015.10:g.43608741_43608743del, NC_000015.10:g.43608742_43608743del, NC_000015.10:g.43608743del, NC_000015.10:g.43608743dup, NC_000015.10:g.43608742_43608743dup, NC_000015.10:g.43608741_43608743dup, NC_000015.10:g.43608740_43608743dup, NC_000015.9:g.43900934_43900941del, NC_000015.9:g.43900935_43900941del, NC_000015.9:g.43900937_43900941del, NC_000015.9:g.43900938_43900941del, NC_000015.9:g.43900939_43900941del, NC_000015.9:g.43900940_43900941del, NC_000015.9:g.43900941del, NC_000015.9:g.43900941dup, NC_000015.9:g.43900940_43900941dup, NC_000015.9:g.43900939_43900941dup, NC_000015.9:g.43900938_43900941dup, NG_011636.1:g.15069_15076del, NG_011636.1:g.15070_15076del, NG_011636.1:g.15072_15076del, NG_011636.1:g.15073_15076del, NG_011636.1:g.15074_15076del, NG_011636.1:g.15075_15076del, NG_011636.1:g.15076del, NG_011636.1:g.15076dup, NG_011636.1:g.15075_15076dup, NG_011636.1:g.15074_15076dup, NG_011636.1:g.15073_15076dup

Select item 14914918224.

rs1491491822 has merged into rs34133897 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 15:43619937 (GRCh38)
15:43912135 (GRCh37)
Canonical SPDI:: NC_000015.10:43619921:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:43619921:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:43619921:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:43619921:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:43619921:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:43619921:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: STRC (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.43619937_43619938del, NC_000015.10:g.43619938del, NC_000015.10:g.43619938dup, NC_000015.10:g.43619937_43619938dup, NC_000015.10:g.43619936_43619938dup, NC_000015.10:g.43619931_43619938dup, NC_000015.9:g.43912135_43912136del, NC_000015.9:g.43912136del, NC_000015.9:g.43912136dup, NC_000015.9:g.43912135_43912136dup, NC_000015.9:g.43912134_43912136dup, NC_000015.9:g.43912129_43912136dup, NG_011636.1:g.3878_3879del, NG_011636.1:g.3879del, NG_011636.1:g.3879dup, NG_011636.1:g.3878_3879dup, NG_011636.1:g.3877_3879dup, NG_011636.1:g.3872_3879dup

Select item 14911295205.

rs1491129520 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:43619921 (GRCh38)
15:43912119 (GRCh37)
Canonical SPDI:: NC_000015.10:43619920:AT:
Gene:: STRC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.008515/101 (ALFA)
-=0.00036/6 (TOMMO)
-=0.010618/1317 (GnomAD)
HGVS:: NC_000015.10:g.43619921_43619922del, NC_000015.9:g.43912119_43912120del, NG_011636.1:g.3879_3880del

Select item 14908402796.

rs1490840279 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:43600837 (GRCh38)
15:43893035 (GRCh37)
Canonical SPDI:: NC_000015.10:43600836:T:G
Gene:: STRC (Varview)
Functional Consequence:: 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_000015.10:g.43600837T>G, NC_000015.9:g.43893035T>G, NG_011636.1:g.22964A>C

Select item 14907210347.

rs1490721034 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:43602360 (GRCh38)
15:43894558 (GRCh37)
Canonical SPDI:: NC_000015.10:43602359:T:C
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000015.10:g.43602360T>C, NC_000015.9:g.43894558T>C, NG_011636.1:g.21441A>G

Select item 14906981838.

rs1490698183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43601006 (GRCh38)
15:43893204 (GRCh37)
Canonical SPDI:: NC_000015.10:43601005:A:G
Gene:: STRC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.43601006A>G, NC_000015.9:g.43893204A>G, NG_011636.1:g.22795T>C, NM_153700.2:c.4710T>C

Select item 14906825839.

rs1490682583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:43599951 (GRCh38)
15:43892149 (GRCh37)
Canonical SPDI:: NC_000015.10:43599950:G:C
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000016/3 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000015.10:g.43599951G>C, NC_000015.9:g.43892149G>C, NG_011636.1:g.23850C>G

Select item 149055870210.

rs1490558702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:43602733 (GRCh38)
15:43894931 (GRCh37)
Canonical SPDI:: NC_000015.10:43602732:C:A,NC_000015.10:43602732:C:G
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.43602733C>A, NC_000015.10:g.43602733C>G, NC_000015.9:g.43894931C>A, NC_000015.9:g.43894931C>G, NG_011636.1:g.21068G>T, NG_011636.1:g.21068G>C, NG_045851.1:g.291C>A, NG_045851.1:g.291C>G

Select item 149048887711.

rs1490488877 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 15:43609642 (GRCh38)
15:43901840 (GRCh37)
Canonical SPDI:: NC_000015.10:43609639:AGGAG:AG
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.43609642_43609644del, NC_000015.9:g.43901840_43901842del, NG_011636.1:g.14159_14161del

Select item 149048222312.

rs1490482223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:43607035 (GRCh38)
15:43899233 (GRCh37)
Canonical SPDI:: NC_000015.10:43607034:G:T
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000087/23 (TOPMED)
T=0.00013/18 (GnomAD)
HGVS:: NC_000015.10:g.43607035G>T, NC_000015.9:g.43899233G>T, NG_011636.1:g.16766C>A

Select item 149046645013.

rs1490466450 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:43610041 (GRCh38)
15:43902239 (GRCh37)
Canonical SPDI:: NC_000015.10:43610040:T:A
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000016/2 (GnomAD)
HGVS:: NC_000015.10:g.43610041T>A, NC_000015.9:g.43902239T>A, NG_011636.1:g.13760A>T

Select item 149035569214.

rs1490355692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:43610890 (GRCh38)
15:43903088 (GRCh37)
Canonical SPDI:: NC_000015.10:43610889:G:A
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.43610890G>A, NC_000015.9:g.43903088G>A, NG_011636.1:g.12911C>T

Select item 149015868315.

rs1490158683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:43608541 (GRCh38)
15:43900739 (GRCh37)
Canonical SPDI:: NC_000015.10:43608540:A:C
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.43608541A>C, NC_000015.9:g.43900739A>C, NG_011636.1:g.15260T>G

Select item 149014534416.

rs1490145344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:43607365 (GRCh38)
15:43899563 (GRCh37)
Canonical SPDI:: NC_000015.10:43607364:C:A,NC_000015.10:43607364:C:T
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000015.10:g.43607365C>A, NC_000015.10:g.43607365C>T, NC_000015.9:g.43899563C>A, NC_000015.9:g.43899563C>T, NG_011636.1:g.16436G>T, NG_011636.1:g.16436G>A

Select item 149012534117.

rs1490125341 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:43617497 (GRCh38)
15:43909696 (GRCh37)
Canonical SPDI:: NC_000015.10:43617497:T:TT
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000015.10:g.43617498dup, NC_000015.9:g.43909696dup, NG_011636.1:g.6303dup

Select item 149011015418.

rs1490110154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43618216 (GRCh38)
15:43910414 (GRCh37)
Canonical SPDI:: NC_000015.10:43618215:A:G
Gene:: STRC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000009/1 (GnomAD)
HGVS:: NC_000015.10:g.43618216A>G, NC_000015.9:g.43910414A>G, NG_011636.1:g.5585T>C, NM_153700.2:c.205T>C, NP_714544.1:p.Ser69Pro

Select item 148997519719.

rs1489975197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:43608682 (GRCh38)
15:43900880 (GRCh37)
Canonical SPDI:: NC_000015.10:43608681:C:T
Gene:: STRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000084/10 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000015.10:g.43608682C>T, NC_000015.9:g.43900880C>T, NG_011636.1:g.15119G>A

Select item 148979951620.

rs1489799516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:43620988 (GRCh38)
15:43913186 (GRCh37)
Canonical SPDI:: NC_000015.10:43620987:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000015.10:g.43620988A>G, NC_000015.9:g.43913186A>G, NG_011636.1:g.2813T>C

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