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Select item 14911415471.

rs1491141547 has merged into rs1296285736 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:170390511 (GRCh38)
5:169817515 (GRCh37)
Canonical SPDI:: NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:170390502:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KCNMB1 (Varview), KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.170390511_170390514del, NC_000005.10:g.170390513_170390514del, NC_000005.10:g.170390514del, NC_000005.10:g.170390514dup, NC_000005.10:g.170390513_170390514dup, NC_000005.10:g.170390512_170390514dup, NC_000005.10:g.170390511_170390514dup, NC_000005.10:g.170390510_170390514dup, NC_000005.10:g.170390509_170390514dup, NC_000005.10:g.170390508_170390514dup, NC_000005.10:g.170390507_170390514dup, NC_000005.10:g.170390506_170390514dup, NC_000005.10:g.170390505_170390514dup, NC_000005.10:g.170390504_170390514dup, NC_000005.10:g.170390503_170390514dup, NC_000005.10:g.170390514_170390515insAAAAAAAAAAAAA, NC_000005.10:g.170390514_170390515insAAAAAAAAAAAAAA, NC_000005.10:g.170390514_170390515insAAAAAAAAAAAAAAA, NC_000005.10:g.170390514_170390515insAAAAAAAAAAAAAAAA, NC_000005.10:g.170390514_170390515insAAAAAAAAAAAAAAAAA, NC_000005.10:g.170390514_170390515insAAAAAAAAAAAAAAAAAA, NC_000005.10:g.170390514_170390515insAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.169817515_169817518del, NC_000005.9:g.169817517_169817518del, NC_000005.9:g.169817518del, NC_000005.9:g.169817518dup, NC_000005.9:g.169817517_169817518dup, NC_000005.9:g.169817516_169817518dup, NC_000005.9:g.169817515_169817518dup, NC_000005.9:g.169817514_169817518dup, NC_000005.9:g.169817513_169817518dup, NC_000005.9:g.169817512_169817518dup, NC_000005.9:g.169817511_169817518dup, NC_000005.9:g.169817510_169817518dup, NC_000005.9:g.169817509_169817518dup, NC_000005.9:g.169817508_169817518dup, NC_000005.9:g.169817507_169817518dup, NC_000005.9:g.169817518_169817519insAAAAAAAAAAAAA, NC_000005.9:g.169817518_169817519insAAAAAAAAAAAAAA, NC_000005.9:g.169817518_169817519insAAAAAAAAAAAAAAA, NC_000005.9:g.169817518_169817519insAAAAAAAAAAAAAAAA, NC_000005.9:g.169817518_169817519insAAAAAAAAAAAAAAAAA, NC_000005.9:g.169817518_169817519insAAAAAAAAAAAAAAAAAA, NC_000005.9:g.169817518_169817519insAAAAAAAAAAAAAAAAAAAAA, NG_011538.2:g.41635_41638del, NG_011538.2:g.41637_41638del, NG_011538.2:g.41638del, NG_011538.2:g.41638dup, NG_011538.2:g.41637_41638dup, NG_011538.2:g.41636_41638dup, NG_011538.2:g.41635_41638dup, NG_011538.2:g.41634_41638dup, NG_011538.2:g.41633_41638dup, NG_011538.2:g.41632_41638dup, NG_011538.2:g.41631_41638dup, NG_011538.2:g.41630_41638dup, NG_011538.2:g.41629_41638dup, NG_011538.2:g.41628_41638dup, NG_011538.2:g.41627_41638dup, NG_011538.2:g.41638_41639insAAAAAAAAAAAAA, NG_011538.2:g.41638_41639insAAAAAAAAAAAAAA, NG_011538.2:g.41638_41639insAAAAAAAAAAAAAAA, NG_011538.2:g.41638_41639insAAAAAAAAAAAAAAAA, NG_011538.2:g.41638_41639insAAAAAAAAAAAAAAAAA, NG_011538.2:g.41638_41639insAAAAAAAAAAAAAAAAAA, NG_011538.2:g.41638_41639insAAAAAAAAAAAAAAAAAAAAA, NG_011452.2:g.4129_4132del, NG_011452.2:g.4131_4132del, NG_011452.2:g.4132del, NG_011452.2:g.4132dup, NG_011452.2:g.4131_4132dup, NG_011452.2:g.4130_4132dup, NG_011452.2:g.4129_4132dup, NG_011452.2:g.4128_4132dup, NG_011452.2:g.4127_4132dup, NG_011452.2:g.4126_4132dup, NG_011452.2:g.4125_4132dup, NG_011452.2:g.4124_4132dup, NG_011452.2:g.4123_4132dup, NG_011452.2:g.4122_4132dup, NG_011452.2:g.4121_4132dup, NG_011452.2:g.4132_4133insTTTTTTTTTTTTT, NG_011452.2:g.4132_4133insTTTTTTTTTTTTTT, NG_011452.2:g.4132_4133insTTTTTTTTTTTTTTT, NG_011452.2:g.4132_4133insTTTTTTTTTTTTTTTT, NG_011452.2:g.4132_4133insTTTTTTTTTTTTTTTTT, NG_011452.2:g.4132_4133insTTTTTTTTTTTTTTTTTT, NG_011452.2:g.4132_4133insTTTTTTTTTTTTTTTTTTTTT

Select item 14911091892.

rs1491109189 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:170390502 (GRCh38)
5:169817506 (GRCh37)
Canonical SPDI:: NC_000005.10:170390501:CA:
Gene:: KCNMB1 (Varview), KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00101/12 (ALFA)
HGVS:: NC_000005.10:g.170390502_170390503del, NC_000005.9:g.169817506_169817507del, NG_011538.2:g.41626_41627del, NG_011452.2:g.4132_4133del

Select item 14906186783.

rs1490618678 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:170389281 (GRCh38)
5:169816285 (GRCh37)
Canonical SPDI:: NC_000005.10:170389280:T:A
Gene:: KCNMB1 (Varview), KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.170389281T>A, NC_000005.9:g.169816285T>A, NG_011538.2:g.40405T>A, NG_011452.2:g.5354A>T, NM_004137.4:c.-47A>T, NM_004137.3:c.-47A>T

Select item 14905209104.

rs1490520910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:170390945 (GRCh38)
5:169817949 (GRCh37)
Canonical SPDI:: NC_000005.10:170390944:C:T
Gene:: KCNMB1 (Varview), KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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_000005.10:g.170390945C>T, NC_000005.9:g.169817949C>T, NG_011538.2:g.42069C>T, NG_011452.2:g.3690G>A

Select item 14901960325.

rs1490196032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:170390513 (GRCh38)
5:169817517 (GRCh37)
Canonical SPDI:: NC_000005.10:170390512:A:C,NC_000005.10:170390512:A:T
Gene:: KCNMB1 (Varview), KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00034/4 (ALFA)
T=0.01105/180 (TOMMO)
T=0.10682/47 (NorthernSweden)
A=0.33333/8 (SGDP_PRJ)
HGVS:: NC_000005.10:g.170390513A>C, NC_000005.10:g.170390513A>T, NC_000005.9:g.169817517A>C, NC_000005.9:g.169817517A>T, NG_011538.2:g.41637A>C, NG_011538.2:g.41637A>T, NG_011452.2:g.4122T>G, NG_011452.2:g.4122T>A

Select item 14897367986.

rs1489736798 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:170381130 (GRCh38)
5:169808134 (GRCh37)
Canonical SPDI:: NC_000005.10:170381129:T:C
Gene:: KCNMB1 (Varview), KCNIP1 (Varview)
Functional Consequence:: genic_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_000005.10:g.170381130T>C, NC_000005.9:g.169808134T>C, NG_011538.2:g.32254T>C, NG_011452.2:g.13505A>G

Select item 14896984567.

rs1489698456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:170379532 (GRCh38)
5:169806536 (GRCh37)
Canonical SPDI:: NC_000005.10:170379531:T:G
Gene:: KCNMB1 (Varview), KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.170379532T>G, NC_000005.9:g.169806536T>G, NG_011538.2:g.30656T>G, NG_011452.2:g.15103A>C

Select item 14896095358.

rs1489609535 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 5:170390536 (GRCh38)
5:169817541 (GRCh37)
Canonical SPDI:: NC_000005.10:170390536:T:TTT,NC_000005.10:170390536:T:TTTTT,NC_000005.10:170390536:T:TTTTTTT,NC_000005.10:170390536:T:TTTTTTTT
Gene:: KCNMB1 (Varview), KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.170390537_170390538insTT, NC_000005.10:g.170390537_170390538insTTTT, NC_000005.10:g.170390537_170390538insTTTTTT, NC_000005.10:g.170390537_170390538insTTTTTTT, NC_000005.9:g.169817541_169817542insTT, NC_000005.9:g.169817541_169817542insTTTT, NC_000005.9:g.169817541_169817542insTTTTTT, NC_000005.9:g.169817541_169817542insTTTTTTT, NG_011538.2:g.41661_41662insTT, NG_011538.2:g.41661_41662insTTTT, NG_011538.2:g.41661_41662insTTTTTT, NG_011538.2:g.41661_41662insTTTTTTT, NG_011452.2:g.4098_4099insAA, NG_011452.2:g.4098_4099insAAAA, NG_011452.2:g.4098_4099insAAAAAA, NG_011452.2:g.4098_4099insAAAAAAA

Select item 14894903199.

rs1489490319 [Homo sapiens]

Variant type:: DEL
Alleles:: CCC>- [Show Flanks]
Chromosome:: 5:170387433 (GRCh38)
5:169814437 (GRCh37)
Canonical SPDI:: NC_000005.10:170387432:CCC:
Gene:: KCNMB1 (Varview), KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000471/66 (GnomAD)
-=0.000781/5 (1000Genomes)
HGVS:: NC_000005.10:g.170387433_170387435del, NC_000005.9:g.169814437_169814439del, NG_011538.2:g.38557_38559del, NG_011452.2:g.7200_7202del

Select item 148930374210.

rs1489303742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:170378544 (GRCh38)
5:169805548 (GRCh37)
Canonical SPDI:: NC_000005.10:170378543:G:A
Gene:: KCNMB1 (Varview), KCNIP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_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_000005.10:g.170378544G>A, NC_000005.9:g.169805548G>A, NG_011538.2:g.29668G>A, NG_011452.2:g.16091C>T, NM_004137.4:c.*160C>T, NM_004137.3:c.*160C>T

Select item 148929685811.

rs1489296858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:170388162 (GRCh38)
5:169815166 (GRCh37)
Canonical SPDI:: NC_000005.10:170388161:C:A
Gene:: KCNMB1 (Varview), KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.170388162C>A, NC_000005.9:g.169815166C>A, NG_011538.2:g.39286C>A, NG_011452.2:g.6473G>T

Select item 148916353612.

rs1489163536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:170386057 (GRCh38)
5:169813061 (GRCh37)
Canonical SPDI:: NC_000005.10:170386056:C:T
Gene:: KCNMB1 (Varview), KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.170386057C>T, NC_000005.9:g.169813061C>T, NG_011538.2:g.37181C>T, NG_011452.2:g.8578G>A

Select item 148904231113.

rs1489042311 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 5:170389627 (GRCh38)
5:169816631 (GRCh37)
Canonical SPDI:: NC_000005.10:170389619:TTCTTCTTCT:TTCTTCT
Gene:: KCNMB1 (Varview), KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTCT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.170389621TCT[2], NC_000005.9:g.169816625TCT[2], NG_011538.2:g.40745TCT[2], NG_011452.2:g.5007GAA[2], NM_004137.3:c.-394GAA[2]

Select item 148853946414.

rs1488539464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:170377934 (GRCh38)
5:169804938 (GRCh37)
Canonical SPDI:: NC_000005.10:170377933:C:A
Gene:: KCNMB1 (Varview), KCNIP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_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_000005.10:g.170377934C>A, NC_000005.9:g.169804938C>A, NG_011538.2:g.29058C>A, NG_011452.2:g.16701G>T, NM_004137.4:c.*770G>T

Select item 148848552615.

rs1488485526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:170382557 (GRCh38)
5:169809561 (GRCh37)
Canonical SPDI:: NC_000005.10:170382556:C:T
Gene:: KCNMB1 (Varview), KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.170382557C>T, NC_000005.9:g.169809561C>T, NG_011538.2:g.33681C>T, NG_011452.2:g.12078G>A

Select item 148813994516.

rs1488139945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:170384472 (GRCh38)
5:169811476 (GRCh37)
Canonical SPDI:: NC_000005.10:170384471:G:A,NC_000005.10:170384471:G:C
Gene:: KCNMB1 (Varview), KCNIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.170384472G>A, NC_000005.10:g.170384472G>C, NC_000005.9:g.169811476G>A, NC_000005.9:g.169811476G>C, NG_011538.2:g.35596G>A, NG_011538.2:g.35596G>C, NG_011452.2:g.10163C>T, NG_011452.2:g.10163C>G

Select item 148764849817.

rs1487648498 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:170391420 (GRCh38)
5:169818424 (GRCh37)
Canonical SPDI:: NC_000005.10:170391418:AAA:A
Gene:: KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.170391420_170391421del, NC_000005.9:g.169818424_169818425del, NG_011538.2:g.42544_42545del, NG_011452.2:g.3215_3216del

Select item 148732772918.

rs1487327729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:170378145 (GRCh38)
5:169805149 (GRCh37)
Canonical SPDI:: NC_000005.10:170378144:T:C
Gene:: KCNMB1 (Varview), KCNIP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.170378145T>C, NC_000005.9:g.169805149T>C, NG_011538.2:g.29269T>C, NG_011452.2:g.16490A>G, NM_004137.4:c.*559A>G

Select item 148724208119.

rs1487242081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:170391527 (GRCh38)
5:169818531 (GRCh37)
Canonical SPDI:: NC_000005.10:170391526:G:A
Gene:: KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: genic_upstream_transcript_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_000005.10:g.170391527G>A, NC_000005.9:g.169818531G>A, NG_011538.2:g.42651G>A, NG_011452.2:g.3108C>T

Select item 148716200620.

rs1487162006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:170390527 (GRCh38)
5:169817531 (GRCh37)
Canonical SPDI:: NC_000005.10:170390526:T:A,NC_000005.10:170390526:T:C
Gene:: KCNMB1 (Varview), KCNIP1 (Varview), KCNIP1-OT1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000402/43 (GnomAD)
A=0.000551/1 (Korea1K)
A=0.000675/3 (Estonian)
HGVS:: NC_000005.10:g.170390527T>A, NC_000005.10:g.170390527T>C, NC_000005.9:g.169817531T>A, NC_000005.9:g.169817531T>C, NG_011538.2:g.41651T>A, NG_011538.2:g.41651T>C, NG_011452.2:g.4108A>T, NG_011452.2:g.4108A>G

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